Mutations in ABCD1

November 6th, 2013 |

All ABCD1 mutations sorted by nucleotide position

As of July 2013, mutations are arranged by nucleotide position. All mutations (including those that have been published in the past) are annotated using Alamut software. The column headed “Effect on ALDP stability” indicates the presence or absence of ALDP in fibroblasts as indicated by immunofluorescence and /or immunoblotting. (?) = no data provided.

Mutation (DNA) Mutation (protein) Exon N Effect on ALDP stability Reference(s)
c.-59C>T 5′UTR(-59) 5′ UTR
polymorphism
c.-24_57delinsA p.0?
no translation initiation
5′ UTR 1 ? 33
c.-22C>T p.0?
upstream ATG (out of frame)
5′ UTR 1 reduced 32
c.-17_8del p.0?
no translation initiation
5′ UTR 1 absent 45
c.1A>G p.Met1Val
no translation initiation
exon 1 2 absent 102
c.2T>A p.Met1Lys
no translation initiation
exon 1 1 absent 58
c.3G>A p.Met1Ile
no translation initiation
exon 1 1 ? 33
c.3G>C p.Met1Ile
no translation initiation
exon 1 1 ? 73
c.30G>A p.Trp10* exon 1 3 absent 7, 58
c.36dupG p.Asn13Glufs*182 exon 1 2 absent 32, 58
c.38A>C p.Asn13Thr exon 1
polymorphism
c.[46A>T; 706C>T] p.[Lys16*; Arg236Cys] exon 1 1 ? 33
c.51_54dup p.Ala19Hisfs*177 exon 1 1 absent 58
c.55G>T p.Ala19Ser exon 1 1 present 104
c.57delC p.Val20Cysfs*48 exon 1 1 absent 16
c.67_83del p.Ala23Serfs*166 exon 1 1 ? 71
c.97_100del p.Tyr33Profs*34 exon 1 1 ? 48
c.99C>A p.Tyr33* exon 1 1 ? 105
c.99_102delCCCC p.Pro34Trpfs*33 exon 1 1 ? 100
c.102delinsAT p.Leu35Phefs*160 exon 1 1 ? 24
c.109C>G p.Arg37Gly exon 1 1 ? 32
c.110_17del p.Arg37Profs*155 exon 1 2 ? 33, 72
c.112C>T p.Gln38* exon 1 1 ? 33
c.115_31delinsGCA p.Cys39Lysfs*151 exon 1 1 absent 60
c.119_147del p.Leu40Argfs*145 exon 1 1 ? 52
c.125delC p.Pro42Argfs*26 exon 1 1 ? 96
c.125_26insC p.Ala43Glyfs*152 exon 1 1 ? 49
c.138_39insT p.Gln47Serfs*148 exon 1 1 ? 7
c.139C>T p.Gln47* exon 1 4 ? 33, 58, 105
c.145_146insCGAC p.Ala50Thrfs*146 exon 1 1 absent 63
c.150dup p.Gly51Argfs*144 exon 1 1 absent 58
c.154G>T p.Glu52* exon 1 1 ? 38
c.154dup p.Glu52Glyfs*143 exon 1 1 ? 33
c.155_56insG p.Pro53Alafs*142 exon 1 1 ? 33
c.163C>T p.Gln55* exon 1 1 ? 100
c.220C>T p.Arg74Trp exon 1 1 7.5 ± 0.6% 32, 97
c.223_240dup p.Trp77_Leu82dup exon 1 1 absent 58
c.225_242del p.Trp77_Leu82del exon 1 1 absent 58
c.232_40del p.Arg80_Leu82del exon 1 2 absent 38, 58
c.234_42del p.Arg80_Leu82del exon 1 1 ? 33
c.240_41ins p.Arg80_Leu81insPheAla exon 1 1 ? 27
c.240_41insTCCTGCGGC p.Arg80_Leu81insSerCysGly exon 1 1 ? 64
c.243_44ins9 p.Leu81_Leu82insLeuArgLeu exon 1 3 ? 28, 33
c.248delT p.Phe83Serfs*20 exon 1 1 ? 33
c.250C>T p.Pro84Ser exon 1 1 ? 90
c.251C>T p.Pro84Leu exon 1 1 ? 33
c.253_54insC p.Arg85Profs*110 exon 1 5 ? 33, 49, 58, 60, 62
c.253del p.Arg85Glyfs*18 exon 1 1 ? 58
c.258C>T p.Val86Val exon 1
polymorphism
c.263G>T p.Cys88Phe exon 1 1 ? 58
c.264C>A p.Cys88* exon 1 1 ? 33
c.264C>G p.Cys88Trp exon 1 1 absent 63
c.268G>A p.Glu90Lys exon 1 1 ? 49
c.268G>T p.Glu90* exon 1 1 ? 32
c.270-271delGA p.Glu90Aspfs*104 exon 1 1 ? 93
c.272C>G p.Thr91Arg exon 1 1 absent 58
c.274_311del p.Gly92Hisfs*90 exon 1 1 ? 4
c.277delC p.Leu93Cysfs*10 exon 1 1 ? 16
c.280insGAGACGGGGCTG p.Leu94delinsArgAspGlyAlaVal exon 1 1 ? 96
c.284C>A p.Ala95Asp exon 1 1 absent 106, 109
c.287_88insCC p.His97Argfs*7 exon 1 1 ? 40
c.290A>C p.His97Pro exon 1 1 ? 33
c.290A>G p.His97Arg exon 1 1 ? 58
c.290A>T p.His97Leu exon 1
polymorphism, 109
c.292T>C p.Ser98Pro exon 1 1 decreased 58
c.293C>A p.Ser98* exon 1 2 ? 32105
c.293C>T p.Ser98Leu exon 1 10 present 7, 33, 49, 48, 58, 98
c.293C>G p.Ser98Trp exon 1 1 ? 41
c.294_95insC p.Ala99Argfs*96 exon 1 1 ? 38
c.295_298dup p.Ala100Glyfs*96 exon 1 1 absent 58
c.296C>A p.Ala99Asp exon 1 1 ? 48
c.298delG p.Ala100Profs*3 exon 1 1 ? 28
c.301T>A p.Lys101Met exon 1 1 ? 33
c.305T>A p.Val102Glu exon 1 1 ? 60
c.309C>G p.Ser103Arg exon 1 2 reduced 29, 53
c.310C>T p.Arg104Cys exon 1 7 35± 3% 13, 16, 33, 42, , 97
c.311G>A p.Arg104His exon 1 9 absent 4, 32, 33, 49, 47, 58
c.311G>T p.Arg104Leu exon 1 1 ? 33
c.313A>C p.Thr105Pro exon 1 2 ? 33, 38
c.314C>T p.Thr105Ile exon 1 1 present 7
c.319delC p.Leu107Cysfs*91 exon 1 1 ? 33
c.320T>C p.Leu107Pro exon 1 2 absent 15, 58
c.322T>G p.Ser108Ala exon 1 1 absent 60
c.323C>A p.Ser108* exon 1 2 ? 33, 56
c.[323C>A; 775C>T] p.[Ser108*; Arg259Trp] exon 1 1 ? 86
c.323C>T p.Ser108Leu exon 1 10 present 33, 34, 53, 62, 90
c.325delG p.Val109Cysfs*89 exon 1 1 ? 32
c.323C>G p.Ser108Trp exon 1 2 reduced 7, 53
c.337delC p.Arg113Alafs*85 exon 1 2 0% 49, 62, 97
c.337C>T p.Arg113Cys exon 1 1 present 49
c.338G>C p.Arg113Pro exon 1 1 ? 49
c.341T>C p.Leu114Pro exon 1 2 reduced 33, 53
c.346G>A p.Gly116Arg exon 1 10 present 7, 29, 32, 33, 58
c.347G>A p.Gly116Glu exon 1 3 ? 57, 87, 88
c.352delCT p.Leu118Glyfs*76 exon 1 1 ? 52
c.356C>A p.Ala119Asp exon 1 1 ? 33
c.359G>C p.Arg120Pro exon 1 1 present 60
c.368C>T p.Ala123Val exon 1
c.371G>C p.Arg124Pro exon 1 2 absent 33, 58
c.385_86insT p.Ala129Valfs*66 exon 1 1 ? 64
c.387delT p.Phe130Leufs*68 exon 1 1
?
29
c.395G>A p.Trp132* exon 1 2 ? 71, 94
c.396G>A p.Trp132* exon 1 4 ? 33, 52, 59, 100
c.397C>T p.Gln133* exon 1 2 absent 16, 49
c.401T>G p.Leu134Arg exon 1 1 ? 95
c.401_05delinsAGCATT p.Leu134Glnfs*61 exon 1 1 ? 19
c.406C>T p.Gln136* exon 1 1 ? 33
c.410G>A p.Trp137* exon 1 2 ? 96, 98
c.411G>A p.Trp137* exon 1 4 absent 16, 49, 58, 62
c.411G>T p.Trp137Cys exon 1 1 ? 32
c.411-12insC p.Leu138Profs*57 exon 1 1 ? 100
c.412_23del p.Leu139_Leu142del exon 1 1 ? 15
c.412_14delCTC p.Leu139del exon 1 2 ? 52, 96
c.420C>A p.Ile140Ile exon 1
polymorphism
c.421G>A p.Ala141Thr exon 1 6 ? 13, 33, 58, 64, 88, 93
c.422C>T p.Ala141Val exon 1 2 ? 33
c.427C>G p.Pro143Ala exon 1 1 ? 98
c.427C>T p.Pro143Ser exon 1 4 ? 49, 34, 38, 88
c.428C>A p.Pro143His exon 1 2 present 58, 98
c.428C>T p.Pro143Leu exon 1 1 ? 33
c.432_446delinsCCC p.Thr145_Ser149delinsPro exon 1 1 absent 58
c.440T>G p.Val147Gly exon 1 1 present 32
c.441_298insATC p.Val147_Asn148insIle exon 1 1 absent 58
c.442A>G p.Asn148Asp exon 1 2 ? 32, 86
c.442A>T p.Asn148Tyr exon 1 1 present 60
c.443A>G p.Asn148Ser exon 1 7 present 7, 8, 24, 33, 38, 60, 98
c.443A>T p.Asn148Ile exon 1 1 absent 58
c.446G>A p.Ser149Asn exon 1 3 77 ± 3% 16, 32, 49, 97
c.454C>A p.Arg152Ser exon 1 4 ? 29, 49, 90
c.454C>T p.Arg152Cys exon 1 9 present 7, 13, 33, 49, 52, 63, 88
c.455G>C p.Arg152Pro exon 1 1 ? 16
c.455G>T p.Arg152Leu exon 1 5 absent 33, 49, 52, 58
c.461T>C p.Leu154Pro exon 1 3 ? 33, 58, 88
c.462_81del p.Glu155Valfs*33 exon 1 1 ? 44
c.469C>T p.Gln157* exon 1 1 absent 16
c.473T>C p.Leu158Pro exon 1 1 ? 33
c.476_99del p.Ala159_Leu166del exon 1 1 ? 96
c.479T>C p.Leu160Pro exon 1 1 ? 70
c.481T>C p.Ser161Pro exon 1 1 ? 49
c.482C>A p.Ser161* exon 1 2 ? 29, 88
c.488G>A p.Arg163His exon 1 1 absent 16
c.488G>T p.Arg163Leu exon 1 1 ? 33
c.488G>C p.Arg163Pro exon 1 4 ? 33, 41, 49, 57
c.494delG p.Arg165Leufs*33 exon 1 1 ? 52
c.496_497insG p.Leu166Argfs*29 exon 1 1 ? 61
c.510delC p.Tyr171Thrfs*27 exon 1 1 ? 33
c.512A>C p.Tyr171Ser exon 1 1 ? 32
c.514delC p.Arg172Alafs*26 exon 1 1 ? 33
c.515_16insC p.Leu173Profs*23 exon 1 1 ? 47
c.518T>C p.Leu173Pro exon 1 1 ? 52
c.520T>C p.Tyr174His exon 1 1 ? 33
c.520T>G p.Tyr174Asp exon 1 2 ? 8, 15
c.521A>G p.Tyr174Cys exon 1 14 absent 29, 32, 33, 47, 49, 60, 62, 88, 93
c.521A>C p.Tyr174Ser exon 1 5 present 1, 33, 60, 88
c.522_24delCTT p.Phe175del exon 1 1 reduced 53
c.524_526del p.Phe175del exon 1 1 ? 32
c.529C>T p.Gln177* exon 1 8 absent 29, 32, 33, 49, 60, 62, 86, 88
c.540_41insT p.Tyr181Leufs*14 exon 1 1 absent 60
c.541_42delTA p.Tyr181Profs*13 exon 1 1 absent 7
c.542A>G p.Tyr181Cys exon 1 6 ? 7, 33, 49, 52, 63, 88
c.543C>A p.Tyr181* exon 1 1 absent 16
c.543C>G p.Tyr181* exon 1 1 ? 101
c.544_45insCTACTACC p.Arg182Profs*19 exon 1 1 ? 49
c.545G>C p.Arg182Pro exon 1 2 ? 13, 59
c.548T>G p.Val183Gly exon 1 1 ? 33
c.565C>T p.Arg189Trp exon 1 5 reduced 29, 33, 58, 60
c.566G>A p.Arg189Gln exon 1 1 ? 33
c.569T>C p.Leu190Pro exon 1 1 ? 38
c.580G>A p.Asp194Asn exon 1 1 reduced 58
c.580G>C p.Asp194His exon 1 3 60 ± 14% 16, 58, 97
c.581_89del p.Asp194_Leu197delinsVal exon 1 1 ? 51
c.583C>T p.Gln195* exon 1 1 ? 49
c.588_89delTC p.Leu197Aspfs*103 exon 1 1 ? 33
c.589_590delCT p.Leu197Aspfs*103 exon 1 2 absent 58, 105
c.591_92insT p.Thr198Tyrfs*103 exon 1 1 ? 24
c.593C>A p.Thr198Lys exon 1 1 ? 49
c.593C>G p.Thr198Arg exon 1 1 ? 96
c.593C>T p.Thr198Met exon 1 1 ? 33
c.595G>A p.Glu199Lys exon 1 2 ? 33, 100
c.598G>A p.Asp200Asn exon 1 2 ? 24, 100
c.598delC p.Asp200Thrfs*16 exon 1 1 ? 90
c.599A>T p.Asp200Val exon 1 1 ? 7
c.614C>A p.Ala205Glu exon 1 3 ? 32, 33
c.618_30del p.Val208Thrfs*3 exon 1 1 ? 15
c.619_627del p.Ser207_Ala209del exon 1 1 absent 62
c.621_900+384del664 p.Val208Trpfs*3 exon 1 1 absent 49
c.622_23insCGGCCTCTG p.Ser207_Val208insAlaAlaSer exon 1 1 ? 49
c.622_623insG p.Val208Glyfs*92 exon 1 1 ? 86
c.631C>T p.Leu211Phe exon 1 1 ? 58
c.632T>C p.Leu211Pro exon 1 2 ? 15, 58
c.636C>G p.Tyr212* exon 1 2 ? 4, 38
c.638C>G p.Ser213Cys exon 1 1 ? 27
c.638C>T p.Ser213Phe exon 1 1 ? 32
c.640A>G p.Asn214Asp exon 1 1 ? 24
c.643delC p.Leu215* exon 1 1 ? 32
c.649A>G p.Lys217Glu exon 1 2 present 49, 48
c.652C>A p.Pro218Thr exon 1 2 present 29, 49
c.[652C>T; 664G>T] p.[Pro218Ser; Val222Leu] exon 1 1 ? 98
c.659T>C p.Leu220Pro exon 1 1 22 ± 5.4% 16, 97
c.662A>G p.Asp221Gly exon 1 3 present 7, 33
c.664_670dup p.Val224Glyfs*79 exon 1 1 absent 58
c.668C>A p.Ala223Asp exon 1 2 ? 33, 58
c.671T>G p.Val224Gly exon 1 1 ? 49
c.677delC p.Tyr227Thrfs*109 exon 1 1 ? 29, 33
c.681C>G p.Tyr227* exon 1 2 absent 58
c.684_85insTACAC p.Leu229Tyrfs*109 exon 1 1 ? 33
c.[685C>G; 851C>T] p.[Leu229Val; Ser284Leu] exon 1 1 ? 58
c.686T>C p.Leu229Pro exon 1 8 absent 29, 33, 47, 49
c.691C>T p.Arg231Trp exon 1 1 ? 32
c.692_94delGGGinsC p.Arg231Profs*69 exon 1 1 ? 33
c.693_94delGG p.Ala232Glyfs*68 exon 1 2 absent 7, 13
c.695_696del p.Ala232Glyfs*68 exon 1 1 absent 58
c.695_96insG p.Ala233Glyfs*68 exon 1 1 ? 96
c.696G>T p.Ala232Ala exon 1
polymorphism
c.696-706del11 p.Ala233Trpfs*64 exon 1 1 ? 100
c.697_900+25del p.Ala233Glyfs*100 exon 1 1 ? 48
c.700C>T p.Arg234Cys exon 1 2 present 58
c.706_09delCGTG p.Arg236Glufs*99 exon 1 1 ? 49
c.[707G>A; 1415_16delAG] p.[Arg236His; Gln472Argfs*83] exon 1 + exon 5 1 ? 33
c.[707G>A; 1534G>A] p.[Arg236His; Gly512Ser] exon 1 + exon 6 1 absent 53
c.724_28delTGGCC p.Trp242Leufs*57 exon 1 1 ? 33
c.725G>A p.Trp242* exon 1 1 ? 96
c.726G>A p.Trp242* exon 1 4 absent 15, 33, 49, 59
c.730delT p.Ser244Argfs*92 exon 1 1 ? 33
c.730_31delinsGAGA p.Ser244Glufs*93 exon 1 1 ? 37
c.734C>A p.Ala245Asp exon 1 1 ? 32
c.739delG p.Ala247Profs*89 exon 1 1 ? 52
c.739_40insGCCATCG p.Ala247Glyfs*56 exon 1 1 ? 93
c.742_45delGGCC p.Gly248Serfs*87 exon 1 1 ? 33
c.748_59del p.Val250_Leu253del exon 1 1 ? 33
c.749_51delTGG p.Val251del exon 1 1 ? 33
c.757_65delinsGAGG p.Leu253Glufs*46 exon 1 1 ? 60
c.[757C>G; 1817C>T] p.[Leu253Val; Ser606Leu] exon 1 + exon 8 1 ? 33
c.760A>G p.Thr254Ala exon 1 3 present 33, 58
c.760A>C p.Thr254Pro exon 1 3 ? 33, 90
c.761delC p.Thr254Argfs*82 exon 1 1 ? 104
c.761C>A p.Thr254Lys exon 1 2 ? 33, 52
c.761C>T p.Thr254Met exon 1 6 present 15, 33, 58, 105
c.773T>C p.Leu258Pro exon 1 1 ? 33
c.775C>T p.Arg259Trp exon 1 1 ? 56
c.784delTC p.Ser262Alafs*38 exon 1 1 ? 33
c.785_91del7 p.Ser262Cysfs*72 exon 1 1 ? 16
c.785C>G p.Ser262Trp exon 1 2 present 32, 58
c.787C>T p.Pro263Ser exon 1 1 ? 33
c.788C>T p.Pro263Leu exon 1 1 reduced 7
c.790A>T p.Lys264* exon 1 1 ? 33
c.796G>A p.Gly266Arg exon 1 28 present 8, 16, 24, 33, 49, 52, 53, 58, 59, 62, 72, 88, 93, 96, 105
c.796G>C p.Gly266Arg exon 1 2 present 58
c.797G>A p.Gly266Glu exon 1 2 ? 32, 96
c.799G>A p.Glu267Lys exon 1 1 ? 51
c.799G>T p.Glu267* exon 1 1 ? 33
c.799delG p.Glu267Serfs*69 exon 1 1 ? 15
c.811G>A p.Glu271Lys exon 1 1 ? 24
c.815_17delAGG p.Glu272del exon 1 1 ? 33
c.818C>A p.Ala273Glu exon 1 2 present 58
c.[820C>T; 838C>T] p.[Arg274Trp; Arg280Cys] exon 1 1 ? 49
c.826A>G p.Lys276Glu exon 1 2 present 22, 86
c.828_29insAAT p.Gly277_Glu278insAsn exon 1 1 ? 15
c.829G>A p.Gly277Arg exon 1 5 present 15, 33, 58, 60, 90
c.829G>C p.Gly277Arg exon 1 2 present 60
c.829G>T p.Gly277Trp exon 1 1 ? 13
c.830G>A p.Gly277Glu exon 1 2 present 33,58
c.832G>T p.Glu278* exon 1 1 absent 58
c.832_834delinsAC p.Glu278Thrfs*58 exon 1 1 absent 58
c.836T>C p.Leu279Pro exon 1 1 absent 60
c.838C>T p.Arg280Cys exon 1 9 present 32, 33, 50, 60
c.839G>T p.Arg280Leu exon 1 2 ? 55, 93
c.847C>T p.His283Tyr exon 1 1 reduced 32
c.847C>G p.His283Asp exon 1 2 ? 64, 93
c.848A>G p.His283Arg exon 1 3 ? 58, 89, 93
c.850T>C p.Ser284Pro exon 1 2 absent 58
c.851C>A p.Ser284* exon 1 1 absent 32
c.852_53insACTC p.Arg285Thrfs*17 exon 1 2 ? 33, 104
c.852dup p.Arg285Alafs*16 exon 1 1 ? 33
c.854G>C p.Arg285Pro exon 1 2 ? 27, 49
c.869del p.Ser290Trpfs*46 exon 1 1 absent 58
c.869C>G p.Ser290Trp exon 1 1 ? 90
c.869C>A p.Ser290* exon 1 2 absent 49, 58
c.871G>A p.Glu291Lys exon 1 4 absent 5, 58, 60, 64
c.873G>C p.Glu291Asp exon 1 1 absent 22
c.874_76delGAG p.Glu292del exon 1 9 absent 15, 22, 24, 31, 33, 49, 58
c.874G>A p.Glu292Lys exon 1 1 reduced 58
c.880G>A p.Ala294Thr exon 1 2 ? 7, 32
c.881C>T p.Arg294Val exon 1 1 ? 33
c.882_869insGC p.Phe295Alafs*42 exon 1 1 absent 58 New mutation
c.885delinsTA p.Tyr296Ilefs*5 exon 1 1 ? 33
c.886_99del14 p.Tyr296Glyfs*100 exon 1 1 ? 27
c.886T>C p.Tyr296His exon 1 1 ? 33
c.887A>G p.Tyr296Cys exon 1 11 present 24, 33, 49, 52, 62, 64, 88, 100
c.887A>C p.Tyr296Ser exon 1 1 ? 33
c.888T>G p.Tyr296* exon 1 1 absent 58
c.892G>A p.Gly298Ser exon 1 2 ? 32, 33
c.893G>A p.Gly298Asp exon 1 6 absent 29, 38, 58
c.893G>T p.Gly298Val exon 1 2 absent 33, 58
c.892_96delinsGTCA p.Gly298Valfs*38 exon 1 1 absent 53
c.893_94delinsT p.Gly298Valfs*38 exon 1 1 ? 84
c.892_93insGC p.His299Profs*38 exon 1 1 absent 58
c.893_894insG p.His299Alafs*2 exon 1 1 ? 33
c.896A>G p.His299Arg exon 1 1 ? 32
c.900G>A p.Val301fs*34 exon 1 2 ? 33, 53
c.900+1g>t p.Val301fs*? IVS 1 2 ? 49, 64
c.900+1g>a p.Val301fs*? IVS 1 2 absent 33, 58
c.900+2t>c p.Val301fs*? IVS 1 1 absent 58
c.901-10c>t p.???? IVS 1
polymorphism
c.901-5c>a p.???? IVS 1
polymorphism
c.901-2a>c p.Val301fs*? IVS 1 1 ? 68
c.901-2a>g p.Val301fs*? IVS 1 1 absent 58
c.901-2a>t p.Val301fs*? IVS 1 1 absent 58
c.901-1g>a p.Val301fs*? IVS 1 3 ? 49, 62
c.904G>A p.Glu302Lys exon 2 2 present 21, 72
c.904G>C p.Glu302Gln exon 2 1 reduced 58
c.905A>G p.Glu302Gly exon 2 1 n.d 33
c.910delG p.Ala304Profs*32 exon 2 1 ? 84
c.914T>C p.Leu305Pro exon 2 1 reduced 58
c.919C>T p.Gln307* exon 2 2 ? 62, 63
c.931C>T p.Gln311* exon 2 2 absent 2, 60
c.932dup p.Asp312Glyfs*89 exon 2 1 absent 58
c.933_34insA p.Asp312Argfs*89 exon 2 1 absent 58
c.937delC p.Leu313Trpfs*23 exon 2 2 ? 35, 64
c.938T>C p.Leu313Pro exon 2 2 ? 33, 90
c.940G>C p.Ala314Pro exon 2 1 ? 93
c.943delT p.Ser315Argfs*21 exon 2 1 absent 58
c.944C>A p.Ser315* exon 2 1 ? 49
c.965T>C p.Leu322Pro exon 2 3 ? 26, 39, 62
c.974T>C p.Leu325Pro exon 2 2 ? 33
c.977G>A p.Trp326* exon 2 3 ? 2, 58, 60
c.978G>A p.Trp326* exon 2 1 ? 100
c.979_80insT p.Tyr327Leufs*74 exon 2 1 absent 60
c.981T>A p.Tyr327* exon 2 1 ? 38
c.986T>G p.Met329Arg exon 2 1 ? 33
c.988_1005del18 p.Leu330_Met335del exon 2 1 ? 33
c.991G>A p.Glu331Lys exon 2 1 ? 33
c.991G>T p.Glu331* exon 2 1 absent 58
c.994C>T p.Gln332* exon 2 1 absent 63
c.1001T>C p.Leu334Pro exon 2 1 ? 33
c.1004T>G p.Met335Arg exon 2 1 ? 33
c.1007A>T p.Lys336Met exon 2 1 ? 49
c.1008G>T p.Lys336Asn exon 2 1 ? 32
c.1009T>C p.Tyr337His exon 2 1 ? 33
c.1011T>A p.Tyr337* exon 2 1 ? 33
c.1016G>A p.Trp339* exon 2 1 ? 33
c.1017G>A p.Trp339* exon 2 1 ? 33
c.1022C>A p.Ala341Asp exon 2 1 ? 104
c.1024T>C p.Ser342Pro exon 2 1 present 22
c.1027G>A p.Gly343Ser exon 2 1 ? 63
c.1028G>A p.Gly343Asp exon 2 1 ? 49
c.1028G>T p.Gly343Val exon 2 4 present 58, 64, 93, 108
c.1031T>C p.Leu344Pro exon 2 1 ? 33
c.1069_70delTinsGCC p.Tyr357Alafs*10 exon 2 1 ? 38
c.1072T>C p.Ser358Pro exon 2 1 ? 32
c.1073C>G p.Ser358* exon 2 3 absent 58, 60, 100
c.1074_75insA p.Glu359Argfs*42 exon 2 1 ? 100
c.1076_77delAG p.Glu359Argfs*41 exon 2 1 ? 37
c.1079C>G p.Ser360* exon 2 2 ? 33
c.1081+1g>t p.Asp361fs*? IVS 2 1 ? 32
c.1081+5g>t p.Leu303_Glu498del IVS 2 2 absent 58, 104
c.1082-3c>g p.Asp361fs*? IVS 2 1 absent 60
c.1092delC p.Ala365* exon 3 1 ? 48
c.1092_93insA p.Val365Serfs*36 exon 3 1 ? 33
c.1114A>T p.Lys372* exon 3 1 ? 33
c.1117_19delAAG p.Lys373del exon 3 1 ? 33
c.1135_36insC p.Ser379Thrfs*22 exon 3 1 absent 7
c.1137C>G p.Ser379Arg exon 3 1 ? 33
c.1137dupC p.Glu380Argfs*21 exon 3 1 ? 104
c.1155delC p.Phe385Leufs*8 exon 3 1 ? 90
c.1159delA p.Ile387Leufs*6 exon 3 1 ? 33
c.1163_64insG p.Arg389Profs*12 exon 3 1 absent 58
c.1165C>G p.Arg389Gly exon 3 4 ? 15, 58, 60, 100
c.1165C>T p.Arg389Cys exon 3 2 ? 58, 98
c.1166G>A p.Arg389His exon 3 6 41 ± 4% 13, 16, 33, 58, 60, 97
c.1168A>G p.Asn390Asp exon 3 1 58
c.1171_80del10 p.Leu391Argfs*16 exon 3 1 ? 60
c.1172T>C p.Leu391Pro exon 3 1 ? 68
c.1174C>G p.Leu392Val exon 3 2 ? 33, 88
c.1186G>A p.Ala396Thr exon 3 3 absent 33, 60
c.1201C>T p.Arg401Trp exon 3 15 absent 24, 29, 33, 51, 58, 87, 88, 96, 100
c.1201C>G p.Arg401Gly exon 3 1 ? 100
c.1202G>A p.Arg401Gln exon 3 32 present 8, 15, 22, 29, 32, 33, 40, 47, 49, 58, 60, 71, 72, 86, 88, 93, 98, 105
c.1210T>C p.Ser404Pro exon 3 1 ? 64
c.1211C>A p.Ser404* exon 3 1 ? 98
c.1212_1214delGTC p.Ser405del exon 3 1 ? 84
c.1214C>G p.Ser405Trp exon 3 1 present 58
c.1219A>T p.Lys407* exon 3 1 ? 49
c.1224G>A p.Val409fs*? exon 3 2 ? 13, 33
c.1224+1gt>tg p.Val409fs*? IVS 3 1 ? 58
c.[1224+1gt>tg; 1165C>T] p.[Val409fs*?; Arg389Cys] IVS 3 + exon 3 1 ? 33
c.1224+2t>c p.Val409fs*? IVS 3 2 absent 58, 64
c.1224+2t>g p.Val409fs*? IVS 3 1 ? 103
c.1225-7_1239del22 p.Val409fs*? IVS 3 1 ? 33
c.1225-2a>c p.Val409fs*? IVS 3 1 ? 33
c.1225-2a>g p.Val409fs*? IVS 3 1 ? 96
c.1225-1g>a p.Val409fs*? IVS 3 1 absent 58
c.1237G>A p.Ala413Pro exon 4 1 ? 33
c.1237G>C p.Ala413Pro exon 4 1 ? 33
c.1244A>G p.Tyr415Cys exon 4 1 ? 84
c.1248delA p.Ala417Profs*24 exon 4 1 ? 33
c.1250delC p.Arg418Glyfs*23 exon 4 1 absent 7
c.1252C>T p.Arg418Trp exon 4 9 absent 8, 15, 28, 29, 33, 40, 58
c.1259A>C p.His420Pro exon 4 1 ? 104
c.1263delG p.Met422Cysfs*19 exon 4 1 ? 33
c.1270delC p.Gln424Argfs*17 exon 4 1 ? 52
c.1279_81delGAA p.Glu427del exon 4 1 ? 49
c.1288C>T p.Gln430* exon 4 2 ? 33, 49
c.1315G>T p.Glu439* exon 4 1 absent 58
c.1322dupA p.Asp442Glyfs*114 exon 4 1 absent 32
c.1330C>T p.Gln444* exon 4 2 ? 32, 60
c.1358delinsGA p.Ser453* exon 4 1 ? 58
c.1359delT p.Gly454Valfs*8 exon 4 1 absent 60
c.1372G>T p.Glu458* exon 4 1 ? 29
c.1390C>T p.Arg464* exon 4 16 absent 6, 33, 49, 47, 64, 58, 96, 105
c.1394-2a>g p.Gly465fs*? IVS 4 2 ? 32, 75
c.1394-1g>a p.Gly465fs*? IVS 4 1 58
c.1396C>T p.Gln466* exon 5 3 ? 13, 32, 58
c.[1399G>A; 1850G>A] p.[Val467Met; Arg617His] exon 5 + exon 8 2 ? 33
c.1411_12insA p.Gln472Thrfs*84 exon 5 1 ? 13
c.1412_13delAA p.Glu471Alafs*84 exon 5 1 ? 13
c.1414dupC p.Gln472Profs*84 exon 5 1 ? 47
c.1415_16delAG p.Gln472Argfs*83 exon 5 96 absent 1, 7, 8, 10, 13, 15, 24, 29, 32, 33, 36, 40, 43, 48,, 49, 53, 58, 59, 60, 62, 63, 64, 85, 86, 88, 93, 100, 105, 108, 110
c.1416_17delGG p.Gly473Aspfs*82 exon 5 1 ? 33
c.1420delA p.Ile474Serfs*84 exon 5 1 absent 60
c.1422_26delCATCT p.Ile474Metfs*80 exon 5 1 ? 66
c.1421T>C p.Ile474Thr exon 5 2 ? 33, 88
c.1429G>T p.Glu477* exon 5 3 ? 8, 15, 33
c.1430delA p.Glu477Glyfs*81 exon 5 2 ? 91, 100
c.1436delT p.Ile479Thrfs*79 exon 5 1 ? 33
c.1438C>A p.Pro480Thr exon 5 1 absent 32
c.1441A>T p.Ile481Phe exon 5 1 ? 100
c.1451C>G p.Pro484Arg exon 5 1 absent 3
c.1462_63insTGG p.Val488_Val489insVal exon 5 1 absent 7
c.1469_71delTGG p.Val490del exon 5 2 absent 33, 58
c.1469T>G p.Val490Gly exon 5 1 absent 58
c.1470_71insGTG p.Val490_Ala491insVal exon 5 2 absent 58
c.1470_1472dup p.Ala491dup exon 5 1 ? 33
c.1477_1488+11del p.Leu493_Arg496del exon 5 1 ? 108
c.1478T>C p.Leu493Pro exon 5 1 ? 33
c.1481delA p.Asn494Thrfs*64 exon 5 1 ? 33
c.1488+1g>a p.Val497fs*? IVS 5 3 absent 33, 40, 58
c.1488+5g>a p.Val497fs*? IVS 5 2 absent 58
c.1489-6delc p.Val497fs*? IVS 5
polymorphism (68)
c.1489-1_1489delinsTT p.Val497fs*? IVS 5 1 ? 33
c.1497_1505del p.Glu499_His502delinsAsp exon 6 1 ? 105
c.1499G>T p.Gly500Val exon 6 2 absent 33, 58
c.1501A>C p.Met501Leu exon 6 1 present 60
c.1505_06insC p.Leu503Serfs*53 exon 6 1 ? 33
c.1505_10delTCTGCT p.Leu503_Leu504del exon 6 1 ? 58
c.1508T>C p.Leu503Pro exon 6 1 ? 63
c.1508_09insC p.Leu504Alafs*52 exon 6 1 ? 27
c.1514T>C p.Ile505Thr exon 6 1 ? 33
c.1515C>G p.Ile505Met exon 6 2 reduced 58
c.1515_19delinsGCA p.Ile505Metfs*50 exon 6 1 ? 60
c.1519G>A p.Gly507Ser exon 6 1 ? 32
c.1520G>A p.Gly507Asp exon 6 2 ? 68, 88
c.1520G>T p.Gly507Val exon 6 1 ? 24
c.1523C>T p.Pro508Leu exon 6 1 ? 93
c.1526A>T p.Asn509Ile exon 6 1 ? 33, 59
c.1528G>A p.Gly510Ser exon 6 2 ? 33, 100
c.1529G>A p.Gly510Asp exon 6 2 ? 33, 64
c.1531T>C p.Cys511Arg exon 6 1 ? 33
c.1532G>A p.Cys511Tyr exon 6 2 ? 33
c.1533C>A p.Cys511* exon 6 1 ? 49
c.1534G>T p.Gly512Cys exon 6 1 ? 47
c.1534G>A p.Gly512Ser exon 6 18 absent 7, 13, 23, 33, 57, 58, 76, 88, 93, 100, 108
c.1537A>C p.Lys513Gln exon 6 2 ? 33, 69
c.1538A>G p.Lys513Arg exon 6 1 absent 58
c.1540A>C p.Ser514Arg exon 6 1 ? 63
c.1540A>G p.Ser514Gly exon 6 1 ? 32
c.1541G>A p.Ser514Asn exon 6 1 reduced 58
c.1544C>T p.Ser515Phe exon 6 2 ? 8, 51
c.1547T>C p.Leu516Pro exon 6 4 absent 33, 58, 71
c.1548G>A p.Leu516Leu exon 6
polymorphism
c.1551delC p.Arg518Glyfs*40 exon 6 2 ? 6, 33
c.1552C>G p.Arg518Gly exon 6 1 ? 64
c.1552C>T p.Arg518Trp exon 6 14 absent 6, 7, 32, 33, 53, 58, 88
c.1553G>A p.Arg518Gln exon 6 30 absent 9, 24, 32, 33, 49, 48, 53, 58, 60, 64, 88, 96, 100, 105, 108
c.1556T>A p.Ile519Asn exon 6 1 ? 58
c.1559T>A p.Leu520Gln exon 6 2 ? 54, 59
c.1564G>A p.Gly522Arg exon 6 2 absent 7, 58
c.1567C>T p.Leu523Phe exon 6 2 absent 58, 96
c.1568T>C p.Leu523Pro exon 6 1 ? 33
c.1570T>C p.Trp524Arg exon 6 1 ? 33
c.1571G>A p.Trp524* exon 6 1 absent 60
c.1573C>G p.Pro525Ala exon 6 1 ? 33
c.1573C>T p.Pro525Ser exon 6 1 absent 58
c.1574C>T p.Pro525Leu exon 6 1 ? 58
c.1575del p.Thr526Argfs*32 exon 6 1 absent 58
c.1581C>T p.Tyr 527Tyr exon 6
polymorphism (58)
c.1581C>A p.Tyr527* exon 6 1 ? 105
c.1585G>A p.Gly529Ser exon 6 1 ? 38
c.1585-87delGGT p.Gly529del exon 6 2 ? 4, 105
c.1585delG p.Gly529Valfs*29 exon 6 2 ? 21, 62
c.1586_90delGTGTG p.Gly529Valfs*25 exon 6 1 absent 49
c.1586G>A p.Gly529Asp exon 6 2 ? 33
c.1586G>T p.Gly529Val exon 6 1 absent 58
c.1592_93insT p.Tyr532Leufs*24 exon 6 1 ? 38
c.1597A>G p.Lys533Glu exon 6 2 absent 33, 60
c.1598_99insA p.Pro534Alafs*22 exon 6 1 ? 33
c.1599G>T p.Lys533Asn exon 6 1 ? 84
c.1599delG p.Lys533Asnfs*25 exon 6 1 absent 49
c.1600C>T p.Pro534Ser exon 6 1 ? 33
c.1601C>G p.Pro534Arg exon 6 2 ? 67, 86
c.1601C>T p.Pro534Leu exon 6 1 absent 23
c.1603_04delCC p.Pro535Thrfs*20 exon 6 1 ? 64
c.1603_1991del p.Pro535Glufs*69 exon 6 1 absent 16
c.1607C>A p.Pro536His exon 6 1 ? 84
c.1609C>T p.Gln537* exon 6 1 ? 96
c.1619T>C p.Phe540Ser exon 6 1 ? 24
c.1619T>G p.Phe540Cys exon 6 1 ? 96
c.1624_26delATC p.Ile542del exon 6 1 ? 68
c.1627C>T p.Pro543Ser exon 6 1 ? 58
c.1628C>T p.Pro543Leu exon 6 17 absent 27, 29, 33, 40, 49, 60, 65
c.1628delC p.Pro543Argfs*15 exon 6 1 ? 33
c.1628_34duplication p.Arg545serfs*13 exon 6 1 absent 49
c.1630C>A p.Gln544Lys exon 6 1 reduced 58
c.1631A>G p.Gln544Arg exon 6 5 present 9, 33, 24, 88
c.1633A>T p.Arg545Trp exon 6 1 ? 53
c.1634+1g>a p.Pro546fs*? IVS 6 4 ? 6, 60, 100
c.1634+1g>c p.Pro546fs*? IVS 6 1 ? 49
c.1635-3C>G p.Pro546fs*? IVS 6 1 ? 33
c.1635-2a>g p.Pro546fs*? IVS 6 1 absent 11
c.1640A>G p.Tyr547Cys exon 7 2 ? 33, 104
c.1651G>A p.Gly551Ser exon 7 1 ? 58
c.1653insG p.Ser552fs*3 exon 7 1 ? 100
c.1654T>C p.Ser552Pro exon 7 1 absent 28
c.1657C>G p.Leu553Val exon 7 1 ? 33
c.1661G>A p.Arg554His exon 7 32 1 ± 0.5% 28, 29, 33, 49, 52, 58, 60, 63, 64, 87, 88, 97, 100, , 107, 108
c.1663G>A p.Asp555Asn exon 7 1 ? 52
c.1666C>T p.Gln556* exon 7 1 absent 58
c.1667A>G p.Gln556Arg exon 7 2 ? 40, 59
c.1670_71delTG p.Val557Aspfs*43 exon 7 1 ? 49
c.1672A>T p.Ile558Phe exon 7 1 absent 58
c.1673T>C p.Ile558Thr exon 7 1 present 72
c.1676A>G p.Tyr559Cys exon 7 3 ? 32, 33
c.1678C>T p.Pro560Ser exon 7 1 ? 49
c.1679C>T p.Pro560Leu exon 7 25 reduced 4, 7, 24, 33, 49, 71, 86, 88, 93, 96, 100, 108
c.1679C>G p.Pro560Arg exon 7 1 absent 7
c.1682A>T p.Asp561Val exon 7 1 absent 60
c.1697T>A p.Met566Lys exon 7 1 absent 13
c.1697T>C p.Met566Thr exon 7 1 absent 58
c.1699C>T p.Gln567* exon 7 2 ? 33, 60
c.1714_1725del12 p.Ser572_Asp575del exon 7 1 ? 104
c.1715C>A p.Ser572* exon 7 1 absent 60
c.1717delG p.Glu573Serfs*63 exon 7 1 ? 33
c.1720C>T p.Gln574* exon 7 2 absent 53, 58
c.1727T>C p.Leu576Pro exon 7 2 93, 98
c.1729G>T p.Glu577* exon 7 1 ? 100
c.1731del p.Ala578Profs*58 exon 7 1 ? 105
c.1746delC p.Val583Cysfs*53 exon 7 1 ? 27
c.1748T>G p.Val583Gly exon 7 1 ? 33
c.1754T>C p.Leu585Pro exon 7 1 ? 68
c.1755delG p.His586Thrfs*50 exon 7 1 ? 62
c.1759_70del12 p.His587_Gln590del exon 7 1 ? 24
c.1765delC p.Leu589Cysfs*47 exon 7 1 ? 49
c.1768C>T p.Gln590* exon 7 2 ? 20, 88
c.1771delC p.Arg591Glyfs*45 exon 7 1 ? 33
c.1771C>T p.Arg591Trp exon 7 6 present 24, 33, 53, 58, 72
c.1772G>C p.Arg591Pro exon 7 3 absent 49, 44, 105
c.1772G>A p.Arg591Gln exon 7 13 present 13, 32, 33, 58, 78, 98, 108
c.1780G>A p.Gly594Ser exon 7 1 absent 58
c.1780G>C p.Gly594Arg exon 7 1 ? 33, 83
c.1780+1g>a p.Trp595fs*? IVS 7 2 absent 7, 53
c.1780+2t>g p.Trp595fs*? IVS 7 5 absent 33, 38, 58
c.1781-2a>g p.Trp595fs*? IVS 7 2 ? 32, 33
c.1781-1g>a p.Trp595fs*? IVS 7 1 ? 96
c.1781-1g>t p.Trp595fs*? IVS 7 1 ? 33
c.1784G>A p.Trp595* exon 8 2 absent 33, 58
c.1785G>A p.Trp595* exon 8 2 ? 24, 59
c.1790C>G p.Ala597Gly exon 8 1 absent 58
c.1791_92delTA p.Met598Valfs*2 exon 8 1 absent 6
c.1802G>A p.Trp601* exon 8 7 absent 27, 33, 53, 79, 100
c.1803G>A p.Trp601* exon 8 1 ? 33
c.1804A>T p.Lys602* exon 8 1 ? 93
c.1814T>A p.Leu605Gln exon 8 1 ? 64
c.1814T>C p.Leu605Pro exon 8 1 ? 33
c.1816T>C p.Ser606Pro exon 8 4 absent 7, 72, 96, 100
c.1816T>G p.Ser606Ala exon 8 1 ? 32
c.1817C>T p.Ser606Leu exon 8 15 25 ± 1.5% 6, 13, 24, 33, 49, 52, 57, 58, 59, 60, 97, 100
c.1817C>G p.Ser606Trp exon 8 1 absent 58
c.1820delG p.Gly607Valfs*29 exon 8 1 absent 6
c.1820G>A p.Gly607Asp exon 8 2 present 52, 58
c.1822G>A p.Gly608Ser exon 8 3 ? 62, 105
c.1823G>A p.Gly608Asp exon 8 1 ? 48
c.1823G>C p.Gly608Ala exon 8 1 present 58
c.1825G>A p.Glu609Lys exon 8 23 2.1 ± 1.3% 15, 16, 33, 49, 58, 60, 62, 72, 88, 97
c.1826A>G p.Glu609Gly exon 8 1 1.8 ± 0.9% 16, 97
c.1832A>G p.Gln611Arg exon 8 1 ? 33
c.1833G>C p.Gln611His exon 8 1 ? 33
c.1838T>A p.Ile613Asn exon 8 1 ? 33
c.1846G>A p.Ala616Thr exon 8 2 4.3 ± 1.7% 32, 97
c.1847C>A p.Ala616Asp exon 8 1 ? 90
c.1847C>T p.Ala616Val exon 8 1 ? 29
c.1849C>A p.Arg617Ser exon 8 1 ? 92
c.1849C>G p.Arg617Gly exon 8 4 ? 15, 33, 64, 86
c.1849C>T p.Arg617Cys exon 8 16 absent 6, 15, 16, 32, 33, 49, 58, 59, 60, 86, 88
c.1849delC p.Arg617Alafs*19 exon 8 1 absent 60
c.1850delG p.Arg617Profs*19 exon 8 1 ? 33
c.1850G>A p.Arg617His exon 8 25 absent 6, 13, 17, 33, 49, 57, 58, 62, 88, 96, 100
c.1850G>T p.Arg617Leu exon 8 1 absent 60
c.1858T>C p.Tyr620His exon 8 1 ? 99
c.1859delA p.Tyr620Serfs*16 exon 8 1 ? 80
c.1859A>G p.Tyr620Cys exon 8 1 absent 58
c.1860C>G p.Tyr620* exon 8 1 58
c.1862dup p.His621Glnfs*10 exon 8 1 absent 58
c.1865+1g>a p.Pro623fs*? IVS 8 1 ? 33
c.1865+1g>t p.Pro623fs*? IVS 8 1 ? 33
c.1866-15g>a p.Pro623fs*? IVS 8 1 ? 32
c.1866-10g>A p.Pro623fs*? IVS 8 13 absent 11, 29, 30, 32, 33, 58, 72, 100
c.1866-2a>t p.Pro623fs*? IVS 8 1 absent 32
c.1868C>T p.Pro623Leu exon 9 1 ? 100
c.1876G>A p.Ala626Thr exon 9 11 absent 22, 33, 49, 58, 96
c.[1876G>A; 2087A>T] p.[Ala626Thr; Lys696Met] 9 + 10 1 ? 32
c.1877C>A p.Ala626Asp exon 9 1 ? 49
c.1880T>A p.Leu627His exon 9 1 ? 32
c.1880dup p.Leu628Profs*3 exon 9 1 absent 58
c.1883T>A p.Leu628Gln exon 9 1 ? 100
c.1883T>C p.Leu628Pro exon 9 2 absent 33, 60
c.1885G>C p.Asp629His exon 9 1 present 22
c.1888G>A p.Glu630Lys exon 9 1 ? 33
c.1889A>G p.Glu630Gly exon 9 1 ? 49
c.1891T>C p.Cys631Arg exon 9 4 absent 32, 33, 60
c.1892G>A p.Cys631Tyr exon 9 5 absent 33, 49, 58, 76, 93
c.1893C>G p.Cys631Trp exon 9 1 ? 33
c.1894A>C p.Thr632Pro exon 9 3 ? 33, 96, 100
c.1895C>T p.Thr632Ile exon 9 4 present 33, 49, 58
c.1898G>T p.Ser633Ile exon 9 1 absent 48
c.1899C>A p.Ser633Arg exon 9 2 ? 29, , 96
c.1899C>T p.Ser633Ser exon 9
polymorphism
c.1899delC p.Ser633Argfs*3 exon 9 1 ? 32
c.1900G>A p.Ala634Thr exon 9 1 ? 32
c.1903G>A p.Val635Met exon 9 2 present 49, 58
c.1903_04insCCA p.Val635delinsAlaMet exon 9 1 present 72
c.1906delA p.Ser636Alafs*55 exon 9 1 ? 33
c.1907_25del19 p.Ser636Argfs*49 exon 9 1 ? 32
c.1907G>T p.Ser636Ile exon 9 2 absent 27, 42
c.1912G>T p.Asp638Tyr exon 9 1 ? 38
c.1918G>A p.Glu640Lys exon 9 2 ? 96
c.1926-1927insCAAG p.Ile643Glnfs*92 exon 9 1 ? 32
c.1933C>T p.Gln645* exon 9 3 absent 22, 33, 58
c.1936G>C p.Ala646Pro exon 9 2 ? 29, 33
c.1937C>T p.Ala646Val exon 9 1 ? 58
c.1939_40insGG p.Ala647Glyfs*45 exon 9 2 absent 71, 72
c.1942A>T p.Lys648* exon 9 1 ? 84
c.1948_49delGC p.Ala650Glyfs*83 exon 9 1 absent 7
c.1961T>G p.Leu654Arg exon 9 1 ? 33
c.1961T>C p.Leu654Pro exon 9 2 1.5 ± 1.3% 49, 62, 97
c.1964T>C p.Leu655Pro exon 9 1 reduced 53
c.1967C>T p.Ser656Phe exon 9 2 absent 33, 60
c.1970_72del p.Ile657del exon 9 3 absent 16, 33, 58
c.1973C>T p.Thr658Ile exon 9 1 absent 58
c.1978C>T p.Arg660Trp exon 9 22 1.6 ± 0.8% 7, 13, 16, 23, 24, 32, 33, 49, 53, 57, 58, 60, 88, 97
c.1979G>A p.Arg660Gln exon 9 1 absent 72
c.1979G>C p.Arg660Pro exon 9 1 ? 48
c.1982-1983delCC p.Pro661Leufs*72 exon 9 1 ? 32
c.1988T>A p.Leu663Gln exon 9 2 reduced 58
c.1988_89insT p.Trp664Valfs*70 exon 9 1 ? 49
c.1991+1g>a p.Lys665fs*? IVS 9 1 ? 49
c.1991+2t>c p.Lys665fs*? IVS 9 1 ? 49
c.1992-2a>g p.Lys665fs*? IVS 9 2 absent 32, 58
c.1992-1g>a p.Lys665fs*? IVS 9 1 ? 49
c.1992G>A p.Trp664* exon 10 1 ? 98
c.1993_95delinsGAG p.Lys665delinsGlu exon 10 1 present 72
c.1997A>C p.Tyr666Ser exon 10 1 ? 58
c.1998C>G p.Tyr666* exon 10 1 ? 33
c.1999C>G p.His667Asp exon 10 3 2.9 ± 1% 49, 62, 90, 97
c.1999_2000delCA p.His669Leufs*64 exon 10 1 ? 29
c.2000A>G p.His667Arg exon 10 2 ? 33, 104
c.2000A>T p.His667Leu exon 10 1 reduced 53
c.2002A>C p.Thr668Pro exon 10 1 ? 33
c.2003C>T p.Thr668Ile exon 10 2 absent 49
c.2004_2007del p.His669Cysfs*21 exon 10 1 absent 58
c.2006_2007delAC p.His669Leufs*64 exon 10 1 ? 33
c.2006A>G p.His669Arg exon 10 4 absent 33, 58, 104
c.2007C>G p.His669Gln exon 10 1 ? 58
c.2010_11insT p.Leu671Serfs*63 exon 10 1 ? 33
c.2012T>G p.Leu671Arg exon 10 1 absent 58
c.2014C>T p.Gln672* exon 10 3 absent 25, 33, 88
c.2019C>T p.Phe673Phe exon 10
polymorphism
c.2026G>T p.Glu676* exon 10 2 ? 33
c.2030G>A p.Gly677Asp exon 10 1 ? 96
c.2035T>C p.Trp679Arg exon 10 2 ? 14, 88
c.2036G>A p.Trp679* exon 10 1 ? 84
c.2037G>A p.Trp679* exon 10 3 ? 32, 33, 100
c.2051T>C p.Leu684Pro exon 10 1 ? 33
c.2061_2200del p.Leu690Profs*65 exon 10 1 ? 32
c.2078C>T p.Thr693Met exon 10 1 present 49
c.2238+8C>G 3′ UTR (stop+8) exon 10
polymorphism

Legend: As of July 2013, mutations are arranged according to their nucleotide position. All mutations (including those that have been published in the past) are annotated using Alamut software. The column headed “Effect on ALDP stability” indicates the presence or absence of ALDP in fibroblasts as indicated by immunofluorescence and /or immunoblotting. (?) = no data provided.
Note: Re-investigation of the effect of missense mutations on ALDP stability using a novel detection method based on Western blot with a calibration curve established that residual protein is actually present in many patient fibroblast lines (results are indicated as % of the ALDP level detected in control cells). With immunofluorescence the signal is below the level of detection and would be scored absent. For more info, see Zhang et al., 2011.
Note: unpublished mutations (unpublished data) may not be used for publication purposes without prior approval from the editor of the database and the laboratories/investigators that have identified these mutations.

References

1 Barcelo et al. Hum Mol Genet 1994;3(10):1889-90
2 Barcelo et al. Hum Mutat 1996;8(3):286-7
3 Berger et al. Biochem Biophys Res Commun 1994;205(3):1638-43
4 Braun et al. Am J Hum Genet 1995;56(4):854-61
5 Cartier et al. Hum Mol Genet 1993;2(11):1949-51
6 Fanen et al. J Clin Invest 1994;94(2):516-20
7 Feigenbaum et al. Am J Hum Genet 1996;58(6):1135-44
8 Fuchs et al. Hum Mol Genet 1994;3(10):1903-5
9 Imamura et al. Clin Genet 1997;51(5):322-5
10 Kemp et al. Biochem Biophys Res Commun 1994;202(2):647-53
11 Kemp et al. Hum Mutat 1995;6(3):272-3
12 Koike et al. Hum Mutat 1995;6(3):263-7
13 Kok et al. Hum Mutat 1995;6(2):104-15
14 Korenke et al. Hum Mutat 1998;Suppl 1:S204-6
15 Krasemann et al. Hum Genet 1996;97(2):194-7
16 Ligtenberg et al. Am J Hum Genet 1995;56(1):44-50
17 Matsumoto et al. Jpn J Hum Genet 1994;39(3):345-51
18 Mosser et al. Nature 1993;361(6414):726-30
19 Song et al. Hum Mol Genet 1995;4(6):1093-4
20 Uchiyama et al. Biochem Biophys Res Commun 1994;198(2):632-6
21 Ueyema et al. Jpn J Hum Genet 1996;41(4):407-11
22 Watkins et al. Am J Hum Genet 1995;57(2):292-301
23 Yasutake et al. J Neurol Sci 1995;131(1):58-64
24 Takano et al. Arch Neurol 1999;56(3):295-300
25 Holzinger et al. Clin Genet 1998;53(6):482-7
26 Osaka et al. J Inherit Metab Dis 1998;21(2):162-6
27 Gartner et al. Neuropediatrics 1998;29(1):3-13
28 Smith et al. Neurochem Res 1999;24(4):521-35
29 Lachtermacher et al. Hum Mutat 15:348-53
30 Yanagawa et al. Kobe J Med Sci 1998;44(1):9-17
31 Kano et al. J Neurol Sci 1998;158(2):187-92
32 J. Haasjes & P.A.W. Mooijer. Lab. Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, The Netherlands.
Contact person: Dr. H.R. Waterham (e-mail: h.r.waterham [at_symbol] amc.uva.nl). Unpublished data
33 The Peroxisomal Diseases Laboratory, The Kennedy Krieger Institute, Baltimore, MD, USA.
Contact person: Dr. S.J.S. Steinberg (e-mail: steinbergs [at_symbol] kennedykrieger.org). Unpublished data
34 Perusi et al. Mol Cell Probes 1999;13(3):179-82
35 Dunne et al. Ann Neurol 1999;45(5):652-5
36 Maier et al. Prenat Diagn 1999;19(4):364-8
37 Gomez-Lira et al. J Neurol Sci 1999;165(1):62-65.
38 Wichers et al. Hum Genet 105:116-9.
39 Lachtermacher et al. Unpublished data
40 Gomez Lira et al., Human Mutation, Mutation in Brief #357 (2000) online
41 Ohi et al., J Neurol Sci 2000 177:131-38
42 J. Berger et al., (2000) Human Mutation, Mutation and Polymorphism Report #188 Online
43 De Meirleir et al., (2000) J Inherit Metab Dis 23 (Suppl 1):251
44 Tang et al., (2000) J Inherit Metab Dis 23 (Suppl 1):251
45 O.Neill et al., (2001) Neurology 57(11):1956-62
46 Korenke et al., (1996) Ann Neurol 40: 254
47 Neumann et al., (2001) Genet Test 5:65-8
48 Dvorakova et al., (2001) Hum Mutat 18(1):52-60
49 Kemp et al., (2001) Hum Mutat 18(6):499-515
50 Institut fuer Humangenetik und Medizinische Biologie, Magdeburgerstr. 2, 06097 Halle/Saale, Germany.
Contact person: Dr. Hannelore Thiel (e-mail: hannelore.thiele [at_symbol] medizin.uni-halle.de). Unpublished data
51 Vorgerd et al., (1998) Nervenartz 69(2):174-9
52 Medical Genetic Research Center , Depart. of Inherited Metabolic Diseases, Moskvorechie str 1, Russian Academy of Medical Sciences , Moscow, Russia.
Contact persons: Drs. E. Voskoboeva and E. Lomonosova. e-mail: sigorag [at_symbol] orc.ru). Unpublished data
53 Guimaraes et al., (2002) Mol Genet Metab 76(1):62-7
54 Xiong Hui, Pan Hong, Zhang Yuehua & Wu Xiru. Department of Pediatrics, First Hospital, Peking University, Beijing, P.R. China.
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55 Lan et al., (2001) Clin Chem Lab Med 39(12):1190-4
56 Fenghua Lan. Research Center for Molecular Diagnosis of Genetic Diseases, Fuzhou General Hospital, Fujian Medical University 350025, China.
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57 Matsumoto et al., (2003) J Hum Genet 48(3):125-9
58 Pitié-Salpétrière Hospital (Biochemistry Department) and Hôpital Saint-Vincent de Paul (Service Pédiatrie C, Inserm U561) Paris, France.
Contact persons: Prof. Bernard Hainque (e-mail: bernard.hainque [at_symbol] psl.ap-hop-paris.fr) and Prof. Patrick Aubourg (e-mail: patrick.aubourg [at_symbol] inserm.fr) Unpublished data
59 Pan et al., (2004) Zhonghua Yi Xue Yi Chuan Xue Za Zhi 21(1):1-4
60 Coll et al., (2005) Clin Genet. 67(5):418-24
61 Mak et al., (2005) Horm Res. 63(1):1-5.
62 Asheuer et al., (2005) Hum Mol Genet. 14(10):1293-303
63 Montagna et al., (2005) Hum Mut. 25(2):222
64 Pan et al., (2005) Pediatr Neurol. 33(2):114-120.
65 Mukherjee et al., (2006) J. R. Soc Med. 99:245-249
66 Institute of Inherited Metabolic Disorders, 1st School of Medicine, Charles University, Prague, Czech Republic.
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67 Huang LH et al., (2004) Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 21(3):193-7.
68 Chiu, et al., (2006) Pediatr Neurol 35(4):250-6
69 Liu, et al., (2007) Pediatr Neurol 36:348-50
70 Sutovsky, et al., (2007) J Neurol Sci
71 All India Institute of Medical Sciences (AIIMS), Department Pediatrics, Genetic Unit, Old Ot Block, New Delhi, India.
Contact person: Pallavi Shukla (e-mail: pallavi15july [at_symbol] rediffmail.com). Various mutation reports
72 Kumar, et al., (2011) PLoS One
73 Vachalova, et al., (2007) Bratisl Lek Listy
74 Fogel, et al., (2008) Neurogenetics
75 Kumar, et al., (2008) Pediatric Neurology
76 Wang, et al., (2008) Clin Chem Lab Med
77 Bonilla Guerrero, et al., (2008) J Inherit Metab Dis
78 Costello, et al., (2009) N Engl J Med
79 Dohle, et al., (2009) J Neurol Sci
80 Li, et al., (2009) J Neurol Sci
83 Gosalakkal & Balky (2010) Neurol India
84 Centro de Genética Médica Dr. Jacinto Magalhães (Medical Genetics Center of the National Institute of Health), Porto, Portugal.
Contact person: Francisco E. R. Laranjeira (e-mail: francisco.laranjeira [at_symbol] insa.min-saude.pt). Unpublished data
85 Di Filippo et al (2010) J Neurol
86 Lan et al (2010) Clin Chim Acta
87 Miyoshi et al (2010) Endocr J
88 Shimozawa et al (2010) J Hum Genet
89 Xie et al (2010) Zhonghua Yi Xue Yi Chuan Xue Za Zhi
90 Matsukawa et al (2010) Neurogenetics
91 Valadares et al (2011) Genet Mol Res
92 Kumar et al (2010) J Genet
93 Lan et al (2011) Clin Chim Acta
94 Soardi et al (2010) Arq Bras Endocrinol Metabol
95 Dr I.C. Verma, Dr R. Saxena , Dr S. Kohli & Dr S. Bijarnia. Center of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India – 110060.
Contact person: Dr. Renu Saxena (e-mail: renu2006 [at_symbol] gmail.com). Unpublished data
96 Wang et al (2011) Mol Genet Metab
97 Zhang et al (2011) Biochem J
98 Salsano et al (2012) Orphanet J Rare Dis
99 Park et al (2012) Gene
100 dos Santos Pereira et al (2012) PLoS ONE
101 Lecumberri et al (2012) J Am Acad Dermatol
102 Engelen et al (2011) J Peripher Nerv Syst
103 Inoue et al (2012) Intern Med
104 Amorosi et al (2012) Plos One
105 Horn et al (2012) Pediatr Neurol
106 Kallabi et al (2013) Neurodegener Dis
107 Zhan et al (2013) Eur J Med Genet
108 Niu et al (2013) Gene
109 Morita et al (2013) JIMD Rep
110 Finsterer et al (2013) Gene

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