Mutations in ABCD1
October 24th, 2011 |All ABCD1 mutations sorted by amino acid position
| Allele | Exon | Mutation | N | ALDP | Reference |
|---|---|---|---|---|---|
| Amino acids 1 – 100 | |||||
| 5′UTR(-59) | 5′UTR | c.-59C>T |
polymorphism
|
||
| p.Met1deleted no translation initiation |
5′UTR | c.-17_8del26 | 1 | absent | 45 |
| p.Met1deleted no translation initiation |
5′UTR | c.-24_57del81insA | 1 | n.d. | 33 |
| p.Met1Val no translation initiation |
1 | c.1A>G | 2 | absent | 32 |
| p.Met1Lys no translation initiation |
1 | c.2T>A | 1 | absent | 58 |
| p.Met1Ile no translation initiation |
1 | c.3G>A | 1 | n.d. | 33 |
| p.Met1Ile no translation initiation |
1 | c.3G>C | 1 | n.d. | 73 |
| p.Trp10X | 1 | c.30G>A | 3 | absent | 7, 58 |
| p.Asn13Thr | 1 | c.38A>C |
polymorphism
|
||
| p.[Lys16X;Arg236Cys] | 1 | c.[46A>T;706C>T] | 1 | n.d. | 33 |
| p.Ala19fsX176 | 1 | c.53_54insGCAC | 1 | absent | 58 |
| p.Ala19Ser | 1 | c.55G>T | 1 | n.d. | 82 |
| p.Val20fsX47 | 1 | c.56delC | 1 | absent | 16 |
| p.Ala23fsX165 | 1 | c.67_83del17 | 1 | n.d. | 71 |
| p.Tyr33fsX33 | 1 | c.97_100del4 | 1 | n.d. | 48 |
| p.Leu35fsX159 | 1 | c.102C>AT | 1 | n.d. | 24 |
| p.Arg37Gly | 1 | c.109C>G | 1 | n.d. | 32 |
| p.Arg37fsX154 | 1 | c.110_17del8 | 2 | n.d. | 33, 72 |
| p.Gln38X | 1 | c.112C>T | 1 | n.d. | 33 |
| p.Cys39fsX150 | 1 | c.115_31delins3 | 1 | absent | 60 |
| p.Leu40fsX144 | 1 | c.119_147del29 | 1 | n.d. | 52 |
| p.Pro42fsX25 | 1 | c.125delC | 1 | n.d. | 96 |
| p.Ala43fsX151 | 1 | c.125_26insC | 1 | n.d. | 49 |
| p.Gln47fsX147 | 1 | c.138_39insT | 1 | n.d. | 7 |
| p.Gln47X | 1 | c.139C>T | 2 | n.d. | 33, 58 |
| p.Pro49fsX146 | 1 | c.145_146ins4 | 1 | absent | 63 |
| p.Glu52X | 1 | c.154G>T | 1 | n.d. | 38 |
| p.Pro53fsX141 | 1 | c.155_56insG | 1 | n.d. | 33 |
| p.[Met67Val;Exon1_5del] | 1-5 | c.[199A>G;Exon1_5del] | 1 | n.d. | 33 |
| p.Arg74Trp | 1 | c.220C>T | 1 | 7.5 ± 0.6% | 32, 97 |
| p.Trp77_Leu82del | 1 | c.225_242del18 | 1 | absent | 58 |
| p.Arg80_Leu82del | 1 | c.232_40del9 | 1 | n.d. | 38 |
| p.Arg80_Leu82del | 1 | c.234_42del9 | 1 | n.d. | 33 |
| p.Arg80_Leu81insPheAla | 1 | c.240_41ins6 | 1 | n.d. | 27 |
| p.Arg80_Leu81insPheAlaAla | 1 | c.240_41ins9 | 1 | n.d. | 64 |
| p.Leu81_Leu82insLeuArgLeu | 1 | c.243_44ins9 | 3 | n.d. | 28, 33 |
| p.Phe83fsX20 | 1 | c.248delT | 1 | n.d. | 33 |
| p.Pro84Ser | 1 | c.250C>T | 1 | n.d. | 90 |
| p.Pro84Leu | 1 | c.251C>T | 1 | n.d. | 33 |
| p.Arg85fsX109 | 1 | c.253_54insC | 3 | n.d. | 49, 60, 62 |
| p.Val86Val | 1 | c.258C>T |
polymorphism
|
||
| p.Cys88Trp | 1 | c.264C>G | 1 | absent | 63 |
| p.Glu90Lys | 1 | c.268G>A | 1 | n.d. | 49 |
| p.Glu90X | 1 | c.268G>T | 1 | n.d. | 32 |
| p.Glu90fsX103 | 1 | c.270-271delGA | 1 | n.d. | 93 |
| p.Gly92fsX189 | 1 | c.274_311del38 | 1 | n.d. | 4 |
| p.Leu93fsX9 | 1 | c.277delC | 1 | n.d. | 16 |
| p.Leu93_Leu94insGluThrGlyLeu | 1 | c.280insGAGACGGGGCTG | 1 | n.d. | 96 |
| p.His97fsX6 | 1 | c.287_88insCC | 1 | n.d. | 40 |
| p.His97Pro | 1 | c.290A>C | 1 | n.d. | 33 |
| p.Ser98Pro | 1 | c.292T>C | 1 | decreased | 58 |
| p.Ser98Leu | 1 | c.293C>T | 8 | present | 7, 33, 49, 48, 58 |
| p.Ser98Trp | 1 | c.293C>G | 1 | n.d. | 41 |
| p.Ala99fsX95 | 1 | c.294_95insC | 1 | n.d. | 38 |
| p.Ala99Asp | 1 | c.296C>A | 1 | n.d. | 48 |
| p.Ala100fsX2 | 1 | c.298delG | 1 | n.d. | 28 |
| Amino acids 101 – 200 | |||||
| p.Lys101Met | 1 | c.301T>A | 1 | n.d. | 33 |
| p.Val102Glu | 1 | c.305T>A | 1 | n.d. | 60 |
| p.Ser103Arg | 1 | c.309C>G | 2 | reduced | 29, 53 |
| p.Arg104Cys | 1 | c.310C>T | 6 | 35± 3% | 13, 16, 33, 42, , 97 |
| p.Arg104His | 1 | c.311G>A | 5 | n.d. | 4, 32, 33, 49, 47 |
| p.Arg104Leu | 1 | c.311G>T | 1 | n.d. | 33 |
| p.Thr105Pro | 1 | c.313A>C | 2 | n.d. | 33, 38 |
| p.Thr105Ile | 1 | c.314C>T | 1 | absent | 7 |
| p.Leu107fsX90 | 1 | c.319delC | 1 | n.d. | 33 |
| p.Leu107Pro | 1 | c.320T>C | 1 | n.d. | 15 |
| p.Ser108Ala | 1 | c.322T>G | 1 | absent | 60 |
| p.Ser108X | 1 | c.323C>A | 2 | n.d. | 33, 56 |
| p.[Ser108X;Arg259Trp] | 1 | [c.323C>A; c.775C>T] | 1 | n.d. | 86 |
| p.Ser108Leu | 1 | c.323C>T | 9 | present | 33, 34, 53, 62, 90 |
| p.Ser108Trp | 1 | c.323C>G | 2 | reduced | 7, 53 |
| p.Arg113fsX84 | 1 | c.337delC | 2 | 0% | 49, 62, 97 |
| p.Arg113Cys | 1 | c.337C>T | 1 | present | 49 |
| p.Arg113Pro | 1 | c.338G>C | 1 | n.d. | 49 |
| p.Leu114Pro | 1 | c.341T>C | 1 | reduced | 53 |
| p.Gly116Arg | 1 | c.346G>A | 6 | present | 7, 29, 32, 33, 58 |
| p.Gly116Glu | 1 | c.347G>A | 3 | n.d. | 57, 87, 88 |
| p.Leu118fsX75 | 1 | c.352delCT | 1 | n.d. | 52 |
| p.Ala119Asp | 1 | c.356C>A | 1 | n.d. | 33 |
| p.Arg120Pro | 1 | c.359G>C | 1 | present | 60 |
| p.Ala123Val | 1 | c.368C>T | |||
| p.Arg124Pro | 1 | c.371G>C | 1 | n.d. | 33 |
| p.Ala129fsX65 | 1 | c.385_86insT | 1 | n.d | 64 |
| p.Phe130fsX67 | 1 | c.387delT | 1 |
n.d.
|
29 |
| p.Trp132X | 1 | c.395G>A | 2 | n.d. | 71, 94 |
| p.Trp132X | 1 | c.396G>A | 3 | n.d. | 33, 52, 59 |
| p.Gln133X | 1 | c.397C>T | 2 | absent | 16, 49 |
| p.Leu134Arg | 1 | c.401T>G | 1 | n.d. | 95 |
| p.Leu134fsX60 | 1 | c.401_05delinsAGCATT | 1 | n.d. | 19 |
| p.Trp137X | 1 | c.410G>A | 1 | n.d. | 96 |
| p.Trp137X | 1 | c.411G>A | 3 | absent | 16, 49, 62 |
| p.Leu139_Leu142del | 1 | c.412_23del12 | 1 | n.d. | 15 |
| p.Leu139del | 1 | c.412_14delCTC | 2 | n.d. | 52, 96 |
| p.Ile140Ile | 1 | c.420C>A |
polymorphism
|
||
| p.Ala141Thr | 1 | c.421G>A | 5 | n.d. | 13, 33, 64, 88, 93 |
| p.Ala141Val | 1 | c.422C>T | 1 | n.d. | 33 |
| p.Pro143Ser | 1 | c.427C>T | 4 | n.d. | 49, 34, 38, 88 |
| p.Pro143His | 1 | c.428C>A | 1 | present | 58 |
| p.Pro143Leu | 1 | c.428C>T | 1 | n.d. | 33 |
| p.Thr145_Ser149delinsPro | 1 | c.432_446delinsCCC | 1 | absent | 58 |
| p.Val147Gly | 1 | c.440T>G | 1 | present | 32 |
| p.Asn148Asp | 1 | c.442A>G | 1 | n.d. | 86 |
| p.Asn148Tyr | 1 | c.442A>T | 1 | present | 60 |
| p.Asn148Ser | 1 | c.443A>G | 6 | present | 7, 8, 24, 33, 38, 60 |
| p.Ser149Asn | 1 | c.446G>A | 3 | 77 ± 3% | 16, 32, 49, 97 |
| p.Arg152Ser | 1 | c.454C>A | 4 | n.d. | 29, 49, 90 |
| p.Arg152Cys | 1 | c.454C>T | 9 | present | 7, 13, 33, 49, 52, 63, 88 |
| p.Arg152Pro | 1 | c.455G>C | 1 | n.d. | 16 |
| p.Arg152Leu | 1 | c.455G>T | 5 | absent | 33, 49, 52, 58 |
| p.Leu154Pro | 1 | c.461T>C | 2 | n.d. | 33, 88 |
| p.Glu155fsX32 | 1 | c.462_81del20 | 1 | n.d. | 44 |
| p.Gln157X | 1 | c.469C>T | 1 | absent | 16 |
| p.Leu158Pro | 1 | c.473T>C | 1 | n.d. | 33 |
| p.Ala159_Leu166del | 1 | c.476_99del24 | 1 | n.d. | 96 |
| p.Leu160Pro | 1 | c.479T>C | 1 | n.d. | 70 |
| p.Ser161Pro | 1 | c.481T>C | 1 | n.d. | 49 |
| p.Ser161X | 1 | c.482C>A | 2 | n.d. | 29, 88 |
| p.Arg163His | 1 | c.488G>A | 1 | absent | 16 |
| p.Arg163Leu | 1 | c.488G>T | 1 | n.d. | 33 |
| p.Arg163Pro | 1 | c.488G>C | 4 | n.d. | 49, 41, 33, 57 |
| p.Arg165fsX32 | 1 | c.494delG | 1 | n.d. | 52 |
| p.Leu166fsX28 | 1 | c.496_497insG | 1 | n.d. | 61 |
| p.Tyr171fsX26 | 1 | c.510delC | 1 | n.d. | 33 |
| p.Tyr171Ser | 1 | c.512A>C | 1 | n.d. | 32 |
| p.Arg172fsX25 | 1 | c.514delC | 1 | n.d. | 33 |
| p.Arg172fsX22 | 1 | c.515_16insC | 1 | n.d. | 47 |
| p.Leu173Pro | 1 | c.518T>C | 1 | n.d. | 52 |
| p.Tyr174His | 1 | c.520T>C | 1 | n.d. | 33 |
| p.Tyr174Asp | 1 | c.520T>G | 2 | n.d. | 8, 15 |
| p.Tyr174Cys | 1 | c.521A>G | 13 | absent | 29, 33, 47, 49, 60, 62, 88, 93 |
| p.Tyr174Ser | 1 | c.521A>C | 5 | present | 1, 33, 60, 88 |
| p.Phe175del | 1 | c.522_24delCTT | 1 | reduced | 53 |
| p.Gln177X | 1 | c.529C>T | 8 | absent | 29, 32, 33, 49, 60, 62, 86, 88 |
| p.Tyr181fsX13 | 1 | c.540_41insT | 1 | absent | 60 |
| p.Tyr181fsX12 | 1 | c.541_42delTA | 1 | absent | 7 |
| p.Tyr181Cys | 1 | c.542A>G | 6 | n.d. | 7, 33, 49, 52, 63, 88 |
| p.Tyr181X | 1 | c.543C>A | 1 | absent | 16 |
| p.Arg182fsX18 | 1 | c.544_45insCTACTACC | 1 | n.d. | 49 |
| p.Arg182Pro | 1 | c.545G>C | 2 | n.d. | 13, 59 |
| p.Val183Gly | 1 | c.548T>G | 1 | n.d. | 33 |
| p.Arg189Trp | 1 | c.565C>T | 3 | n.d. | 29, 33, 60 |
| p.Arg189Gln | 1 | c.566G>A | 1 | n.d. | 33 |
| p.Leu190Pro | 1 | c.569T>C | 1 | n.d. | 38 |
| p.Asp194Asn | 1 | c.580G>A | 1 | reduced | 58 |
| p.Asp194His | 1 | c.580G>C | 3 | 60 ± 14% | 16, 58, 97 |
| p.Asp194_Leu197delinsVal | 1 | c.581_89del | 1 | n.d. | 51 |
| p.Gln195X | 1 | c.583C>T | 1 | n.d. | 49 |
| p.Leu197fsX102 | 1 | c.588_89delTC | 1 | n.d. | 33 |
| p.Thr198fsX102 | 1 | c.591_92insT | 1 | n.d. | 24 |
| p.Thr198Lys | 1 | c.593C>A | 1 | n.d. | 49 |
| p.Thr198Arg | 1 | c.593C>G | 1 | n.d. | 96 |
| p.Thr198Met | 1 | c.593C>T | 1 | n.d. | 33 |
| p.Glu199Lys | 1 | c.595G>A | 1 | n.d. | 33 |
| p.Asp200Asn | 1 | c.598G>A | 1 | n.d. | 24 |
| p.Asp200Val | 1 | c.599A>T | 1 | n.d. | 7 |
| p.Asp200fsX15 | 1 | c.598delC | 1 | n.d. | 90 |
| Amino acids 201 – 300 | |||||
| p.Ala205Glu | 1 | c.614C>A | 2 | n.d. | 33 |
| p.Ser207_Ala209del | 1 | c.619_627del | 1 | absent | 62 |
| p.Ser207_Val208insAlaAlaSer | 1 | c.622_23insCGGCCTCTG | 1 | n.d. | 49 |
| p.Val208fsX3 | 1 | c.618_30del13 | 1 | n.d. | 15 |
| p.Val208fsX3 | 1 | c.621_900+384del664 | 1 | absent | 49 |
| p.Val208fsX92 | 1 | c.622_623insG | 1 | n.d. | 86 |
| p.Leu211Pro | 1 | c.632T>C | 1 | n.d. | 15 |
| p.Tyr212X | 1 | c.636C>G | 2 | n.d. | 4, 38 |
| p.Ser213Cys | 1 | c.638C>G | 1 | n.d. | 27 |
| p.Asn214Asp | 1 | c.640A>G | 1 | n.d. | 24 |
| p.Leu215X | 1 | c.643delC | 1 | n.d. | 32 |
| p.Lys217Glu | 1 | c.649A>G | 2 | present | 49, 48 |
| p.Pro218Thr | 1 | c.652C>A | 2 | present | 29, 49 |
| p.Leu220Pro | 1 | c.659T>C | 1 | 22 ± 5.4% | 16, 97 |
| p.Asp221Gly | 1 | c.662A>G | 3 | absent | 7, 33 |
| p.Ala223Asp | 1 | c.668C>A | 1 | n.d. | 33 |
| p.Val224Gly | 1 | c.671T>G | 1 | n.d. | 49 |
| p.Tyr227fsX108 | 1 | c.677delC | 1 | n.d. | 29 |
| p.Leu229fsX108 | 1 | c.684_85insTACAC | 1 | n.d. | 33 |
| p.Leu229Pro | 1 | c.686T>C | 8 | absent | 29, 33, 47, 49 |
| p.Arg231fsX68 | 1 | c.692_94delGGGinsC | 1 | n.d. | 33 |
| p.Ala232fsX67 | 1 | c.693_94delGG | 2 | absent | 7, 13 |
| p.Ala232Ala | 1 | c.696G>T |
polymorphism
|
||
| p.Ala233fsX67 | 1 | c.695_96insG | 1 | n.d. | 96 |
| p.Ala233fsX26 | 1 | c.697_900+25del229 | 1 | n.d. | 48 |
| p.Arg236fsX98 | 1 | c.706_09delCGTG | 1 | n.d. | 49 |
| p.[Arg236His;Glu471fs] | 1 + 5 | c.[707G>A;1415_16delAG] | 1 | n.d. | 33 |
| p.[Arg236His;Gly512Ser] | 1 + 6 | c.[707G>A;1534G>A] | 1 | absent | 53 |
| p.Trp242fsX56 | 1 | c.724_28delTGGCC | 1 | n.d. | 33 |
| p.Trp242X | 1 | c.725G>A | 1 | n.d. | 96 |
| p.Trp242X | 1 | c.726G>A | 4 | absent | 15, 33, 49, 59 |
| p.Ser244fsX92 | 1 | c.730_31delinsGAGA | 1 | n.d. | 37 |
| p.Ala245Asp | 1 | c.734C>A | 1 | n.d. | 32 |
| p.Ala247fsX88 | 1 | c.739delG | 1 | n.d. | 52 |
| p.Ala247fsX55 | 1 | c.739_40insGCCATCG | 1 | n.d. | 93 |
| p.Gly248fsX86 | 1 | c.742_45delGGCC | 1 | n.d. | 33 |
| p.Val250_Leu253del | 1 | c.748_59del12 | 1 | n.d. | 33 |
| p.Val251del | 1 | c.749_51delTGG | 1 | n.d. | 33 |
| p.Leu253fsX45 | 1 | c.757_65delins4 | 1 | n.d. | 60 |
| p.[Leu253Val;Ser606Leu] | 1 + 8 | c.[757C>G;1817C>T] | 1 | n.d. | 33 |
| p.Thr254Ala | 1 | c.760A>G | 3 | present | 33, 58 |
| p.Thr254Pro | 1 | c.760A>C | 3 | n.d. | 33, 90 |
| p.Thr254fsX82 | 1 | c.761delC | 1 | n.d. | 81 |
| p.Thr254Lys | 1 | c.761C>A | 2 | n.d. | 33, 52 |
| p.Thr254Met | 1 | c.761C>T | 3 | n.d. | 15, 33 |
| p.Leu258Pro | 1 | c.773T>C | 1 | n.d. | 33 |
| p.Arg259Trp | 1 | c.775C>T | 1 | n.d. | 56 |
| p.Ser262fsX37 | 1 | c.784delTC | 1 | n.d. | 33 |
| p.Ser262fsX71 | 1 | c.785_91del7 | 1 | n.d. | 16 |
| p.Ser262Trp | 1 | c.785C>G | 1 | n.d. | 32 |
| p.Pro263Ser | 1 | c.787C>T | 1 | n.d. | 33 |
| p.Pro263Leu | 1 | c.788C>T | 1 | reduced | 7 |
| p.Lys264X | 1 | c.790A>T | 1 | n.d. | 33 |
| p.Gly266Arg | 1 | c.796G>A | 23 | present | 8, 16, 24, 33, 49, 52, 53, 59, 62, 72, 88, 93, 96 |
| p.Gly266Glu | 1 | c.797G>A | 1 | n.d. | 96 |
| p.Glu267Lys | 1 | c.799G>A | 1 | n.d. | 51 |
| p.Glu267X | 1 | c.799G>T | 1 | n.d. | 33 |
| p.Glu267fsX68 | 1 | c.799delG | 1 | n.d. | 15 |
| p.Glu271Lys | 1 | c.811G>A | 1 | n.d. | 24 |
| p.Glu272del | 1 | c.815_17delAGG | 1 | n.d. | 33 |
| p.Ala273Glu | 1 | c.818C>A | 1 | present | 58 |
| p.[Arg274Trp;Arg280Cys] | 1 | c.[820C>T;838C>T] | 1 | n.d. | 49 |
| p.Lys276Glu | 1 | c.826A>G | 2 | present | 22, 86 |
| p.Gly277_Glu278insAsn | 1 | c.828_29insAAT | 1 | n.d. | 15 |
| p.Gly277Arg | 1 | c.829G>A | 4 | present | 15, 33, 60, 90 |
| p.Gly277Arg | 1 | c.829G>C | 2 | present | 60 |
| p.Gly277Trp | 1 | c.829G>T | 1 | n.d. | 13 |
| p.Gly277Glu | 1 | c.830G>A | 1 | n.d. | 33 |
| p.Glu278X | 1 | c.832G>T | 1 | absent | 58 |
| p.Leu279Pro | 1 | c.836T>C | 1 | absent | 60 |
| p.Arg280Cys | 1 | c.838C>T | 7 | present | 33, 50, 60 |
| p.Arg280Leu | 1 | c.839G>T | 2 | n.d. | 55, 93 |
| p.His283Tyr | 1 | c.847C>T | 1 | n.d. | 32 |
| p.His283Asp | 1 | c.847C>G | 2 | n.d. | 64, 93 |
| p.His283Arg | 1 | c.848A>G | 1 | n.d. | 89, 93 |
| p.Ser284X | 1 | c.851C>A | 1 | absent | 32 |
| p.Arg285fsX16 | 1 | c.852_53insACTC | 1 | n.d. | 33, 82 |
| p.Arg285fsX15 | 1 | c.852_53insG | 1 | n.d. | 33 |
| p.Arg285Pro | 1 | c.854G>C | 2 | n.d. | 27, 49 |
| p.Ser290Trp | 1 | c.869C>G | 1 | n.d. | 90 |
| p.Ser290X | 1 | c.869C>A | 1 | absent | 49 |
| p.Glu291del | 1 | c.871_73delGAG | 6 | absent | 15, 22, 24, 31, 33, 49 |
| p.Glu291Lys | 1 | c.871G>A | 4 | absent | 5, 58, 60, 64 |
| p.Glu291Asp | 1 | c.873G>C | 1 | absent | 22 |
| p.Ala294Thr | 1 | c.880G>A | 2 | n.d. | 7, 32 |
| p.Arg294Val | 1 | c.881C>T | 1 | n.d. | 33 |
| p.Tyr296fsX99 | 1 | c.886_99del14 | 1 | n.d. | 27 |
| p.Tyr296His | 1 | c.886T>C | 1 | n.d. | 33 |
| p.Tyr296Cys | 1 | c.887A>G | 10 | present | 24, 33, 49, 52, 62, 64, 88 |
| p.Tyr296Ser | 1 | c.887A>C | 1 | n.d. | 33 |
| p.Tyr296X | 1 | c.888T>G | 1 | absent | 58 |
| p.Gly298fsX37 | 1 | c.892_96delinsGTCA | 1 | absent | 53 |
| p.Gly298fsX37 | 1 | c.893_94delinsT | 1 | n.d. | 84 |
| p.His299fsX1 | 1 | c.893_894insG | 1 | n.d. | 33 |
| p.Gly298Ser | 1 | c.892G>A | 2 | n.d. | 32, 33 |
| p.Gly298Asp | 1 | c.893G>A | 4 | absent | 29, 38, 58 |
| p.Gly298Val | 1 | c.893G>T | 1 | n.d. | 33 |
| p.His299fsX37 | 1 | c.892_93insGC | 1 | absent | 58 |
| Amino acids 301 – 400 | |||||
| p.Val301fsX34 | 1 | c.900G>A | 2 | n.d. | 33, 53 |
| p.Val301fsX? | IVS1 | c.900+1G>T | 2 | n.d. | 49, 64 |
| c.IVS1-10c/t | IVS1 | c.901-10C>T |
polymorphism
|
||
| c.IVS1-5c/a | IVS1 | c.901-5C>A |
polymorphism
|
||
| p.Val301fsX? | IVS1 | c.901-2A>C | 1 | n.d. | 68 |
| p.Val301fsX? | IVS1 | c.901-1G>A | 3 | n.d. | 49, 62 |
| p.Glu302Lys | 2 | c.904G>A | 2 | present | 21, 72 |
| p.Glu302Gln | 2 | c.904G>C | 1 | reduced | 58 |
| p.Glu302Gly | 2 | c.905A>G | 1 | n.d | 33 |
| p.Ala304fsX31 | 2 | c.910delG | 1 | n.d. | 84 |
| p.Gln307X | 2 | c.919C>T | 2 | n.d. | 62, 63 |
| p.Gln311X | 2 | c.931C>T | 2 | absent | 2, 60 |
| p.Asp312fsX88 | 2 | c.933_34insA | 1 | absent | 58 |
| p.Leu313fsX22 | 2 | c.937delC | 2 | n.d. | 35, 64 |
| p.Leu313Pro | 1 | c.938T>C | 2 | n.d. | 33, 90 |
| p.Ala314Pro | 2 | c.940G>C | 1 | n.d. | 93 |
| p.Ser315fsX20 | 2 | c.943delT | 1 | absent | 58 |
| p.Ser315X | 2 | c.944C>A | 1 | n.d. | 49 |
| p.Leu322Pro | 2 | c.965T>C | 3 | n.d. | 26, 39, 62 |
| p.Leu325Pro | 2 | c.974T>C | 2 | n.d. | 33 |
| p.Trp326X | 2 | c.977G>A | 2 | n.d. | 2, 60 |
| p.Tyr327fsX173 | 2 | c.979_80insT | 1 | absent | 60 |
| p.Tyr327X | 2 | c.981T>A | 1 | n.d. | 38 |
| p.Met329Arg | 2 | c.986T>G | 1 | n.d. | 33 |
| p.Leu330_Met335del | 2 | c.988_1005del18 | 1 | n.d. | 33 |
| p.Glu331Lys | 2 | c.991G>A | 1 | n.d. | 33 |
| p.Gln332X | 2 | c.994C>T | 1 | absent | 63 |
| p.Leu334Pro | 2 | c.1001T>C | 1 | n.d. | 33 |
| p.Met335Arg | 2 | c.1004T>G | 1 | n.d. | 33 |
| p.Lys336Met | 2 | c.1007A>T | 1 | n.d. | 49 |
| p.Lys336Asn | 2 | c.1008G>T | 1 | n.d. | 32 |
| p.Tyr337His | 2 | c.1009T>C | 1 | n.d. | 33 |
| p.Tyr337X | 2 | c.1011T>A | 1 | n.d. | 33 |
| p.Trp339X | 2 | c.1016G>A | 1 | n.d. | 33 |
| p.Ser342Pro | 2 | c.1024T>C | 1 | present | 22 |
| p.Gly343Ser | 2 | c.1027G>A | 1 | n.d. | 63 |
| p.Gly343Asp | 2 | c.1028G>A | 1 | n.d. | 49 |
| p.Gly343Val | 2 | c.1028G>T | 2 | n.d. | 64, 93 |
| p.Leu344Pro | 2 | c.1031T>C | 1 | n.d. | 33 |
| p.Tyr357fsX9 | 2 | c.1069_70delTinsGCC | 1 | n.d. | 38 |
| p.Ser358Pro | 2 | c.1072T>C | 1 | n.d. | 32 |
| p.Ser358X | 2 | c.1073C>G | 1 | n.d. | 60 |
| p.Glu359fsX40 | 2 | c.1076_77delAG | 1 | n.d. | 37 |
| p.Ser360X | 2 | c.1079C>G | 2 | n.d. | 33 |
| p.Asp361fsX? | IVS2 | c.1081+1G>T | 1 | n.d. | 32 |
| p.Asp361fsX? | IVS2 | c.1082-3C>G | 1 | absent | 60 |
| p.Ala364fs | 3 | c.1092delC | 1 | n.d. | 48 |
| p.Val365fsX35 | 3 | c.1092_93insA | 1 | n.d. | 33 |
| p.Lys372X | 3 | c.1114A>T | 1 | n.d. | 33 |
| p.Lys373del | 3 | c.1117_19delAAG | 1 | n.d. | 33 |
| p.Ser379fsX21 | 3 | c.1135_36insC | 1 | absent | 7 |
| p.Glu380fsX20 | 3 | c.1137_38insC | 1 | n.d. | 81 |
| p.Phe385fsX7 | 3 | c.1155delC | 1 | n.d. | 90 |
| p.Ile387fsX5 | 3 | c.1159delA | 1 | n.d. | 33 |
| p.Arg389fsX11 | 3 | c.1163_64insG | 1 | absent | 58 |
| p.Arg389Gly | 3 | c.1165C>G | 2 | n.d. | 15, 60 |
| p.Arg389Cys | 3 | c.1165C>T | 1 | n.d. | 58 |
| p.Arg389His | 3 | c.1166G>A | 5 | 41 ± 4% | 13, 16, 33, 60, 97 |
| p.Leu391fsX15 | 3 | c.1171_80del10 | 1 | n.d. | 60 |
| p.Leu391Pro | 3 | c.1172T>C | 1 | n.d. | 68 |
| p.Leu392Val | 3 | c.1174C>G | 2 | n.d. | 33, 88 |
| p.Ala396Thr | 3 | c.1186G>A | 3 | absent | 33, 60 |
| Amino acids 401 – 500 | |||||
| p.Arg401Trp | 3 | c.1201C>T | 12 | n.d. | 24, 29, 33, 51, 87, 88, 96 |
| p.Arg401Gln | 3 | c.1202G>A | 24 | present | 8, 15, 22, 29, 32, 33, 40, 47, 49,, 60, 71, 72, 86, 88, 93 |
| p.Ser404Pro | 3 | c.1210T>C | 1 | n.d. | 64 |
| p.Ser405del | 3 | c.1212_1214delGTC | 1 | n.d. | 84 |
| p.Lys407X | 3 | c.1219A>T | 1 | n.d. | 49 |
| p.Val409fsX? | 3 | c.1224G>A | 2 | n.d. | 13, 33 |
| p.Val409fsX? | IVS3 | c.1224+1GT>TG | 1 | n.d. | 58 |
| p.[Arg389Cys;Val409fsX?] | IVS3+3 | c.[1224+1GT>TG;1165C>T] | 1 | n.d. | 33 |
| p.Val409fsX? | IVS3 | c.1224+2C>T | 1 | n.d. | 64 |
| p.Val409fsX? | IVS3 | c.1225-7_1239del22 | 1 | n.d. | 33 |
| p.Val409fsX? | IVS3 | c.1225-2A>C | 1 | n.d. | 33 |
| p.Val409fsX? | IVS3 | 1225-2a>g | 1 | n.d. | 96 |
| p.Ala413Pro | 4 | c.1237G>A | 1 | n.d. | 33 |
| p.Ala413Pro | 4 | c.1237G>C | 1 | n.d. | 33 |
| p.Tyr415Cys | 4 | c.1244A>G | 1 | n.d. | 84 |
| p.Ala417fsX23 | 4 | c.1248delA | 1 | n.d. | 33 |
| p.Arg418fsX22 | 4 | c.1250delC | 1 | absent | 7 |
| p.Arg418Trp | 4 | c.1252C>T | 8 | absent | 8, 15, 28, 29, 33, 40, 58 |
| p.Met422fsX18 | 4 | c.1263delG | 1 | n.d. | 33 |
| p.Gln424fsX16 | 4 | c.1270delC | 1 | n.d. | 52 |
| p.Glu427del | 4 | c.1279_81delGAA | 1 | n.d. | 49 |
| p.Gln430X | 4 | c.1288C>T | 2 | n.d. | 33, 49 |
| p.Glu439X | 4 | c.1315G>T | 1 | absent | 58 |
| p.Asp442fsX113 | 4 | c.1322_23insA | 1 | absent | 32 |
| p.Gln444X | 4 | c.1330C>T | 2 | n.d. | 32, 60 |
| p.Gly454fsX7 | 4 | c.1359delT | 1 | absent | 60 |
| p.Glu458X | 4 | c.1372G>T | 1 | n.d. | 29 |
| p.Arg464X | 4 | c.1390C>T | 11 | absent | 6, 33, 49, 47, 64, 96 |
| p.Gly465fsX? | IVS4 | c.1394-2A>G | 2 | n.d. | 32, 75 |
| p.Gln466X | 5 | c.1396C>T | 1 | n.d. | 13 |
| p.[Val467Met;Arg617His] | 5 + 8 | c.[1399G>A;1850G>A] | 1 | n.d. | 33 |
| p.Gln472fsX83 | 5 | c.1411_12insA | 1 | n.d. | 13 |
| p.Glu471fsX83 | 5 | c.1412_13delAA | 1 | n.d. | 13 |
| p.Gln472fsX83 | 5 | c.1414_15insC | 1 | n.d. | 47 |
| p.Gln472fsX83 | 5 | c.1415_16delAG | 81 | 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 |
| p.Gly473fsX82 | 5 | c.1416_17delGG | 1 | n.d. | 33 |
| p.Ile474fsX83 | 5 | c.1420delA | 1 | absent | 60 |
| p.Ile474fsX79 | 5 | c.1422_26delCATCT | 1 | n.d. | 66 |
| p.Ile474Thr | 5 | c.1421T>C | 2 | n.d. | 33, 88 |
| p.Glu477X | 5 | c.1429G>T | 3 | n.d. | 8, 15, 33 |
| p.Glu477fsX80 | 5 | c.1430delA | 1 | n.d. | 91 |
| p.Ile479fsX78 | 5 | c.1436delT | 1 | n.d. | 33 |
| p.[Pro480Thr;IVS1-5C>A] | 5 | c.[1438C>A;901-5c>a] | 1 | n.d. | 32 |
| p.Pro484Arg | 5 | c.1451C>G | 1 | absent | 3 |
| p.Val488_Val489insVal | 5 | c.1462_63insTGG | 1 | absent | 7 |
| p.Val490del | 5 | c.1469_71delTGG | 1 | n.d. | 33 |
| p.Val490_Ala491insVal | 5 | c.1470_71insGTG | 1 | absent | 58 |
| p.Leu493Pro | 5 | c.1478T>C | 1 | n.d. | 33 |
| p.Asn494fsX63 | 5 | c.1481delA | 1 | n.d. | 33 |
| p.Val497fsX? | IVS5 | c.1488+1G>A | 1 | n.d. | 40 |
| c.1489-6del(c) | IVS5 | c.1489-6delC |
polymorphism (68)
|
||
| Amino acids 501 – 600 | |||||
| p.Gly500Val | 6 | c.1499G>T | 1 | n.d. | 33 |
| p.Met501Leu | 6 | c.1501A>C | 1 | present | 60 |
| p.Leu503fsX52 | 6 | c.1505_06insC | 1 | n.d. | 33 |
| p.Leu504fsX51 | 6 | c.1508_09insC | 1 | n.d. | 27 |
| p.Leu503_Leu504del | 6 | c.1505_10delTCTGCT | 1 | n.d. | 58 |
| p.Leu503Pro | 6 | c.1508T>C | 1 | n.d. | 63 |
| p.Ile505fsX49 | 6 | c.1515_19CACAG>GCA | 1 | n.d. | 60 |
| p.Ile505Thr | 6 | c.1514T>C | 1 | n.d. | 33 |
| p.Ile505Met | 6 | c.1515C>G | 1 | reduced | 58 |
| p.Gly507Ser | 6 | c.1519G>A | 1 | n.d. | 32 |
| p.Gly507Asp | 6 | c.1520G>A | 2 | n.d. | 68, 88 |
| p.Gly507Val | 6 | c.1520G>T | 1 | n.d. | 24 |
| p.Pro508Leu | 6 | c.1523C>T | 1 | n.d. | 93 |
| p.Asn509Ile | 6 | c.1526A>T | 1 | n.d. | 33, 59 |
| p.Gly510Ser | 6 | c.1528G>A | 1 | n.d. | 33 |
| p.Gly510Asp | 6 | c.1529G>A | 2 | n.d. | 33, 64 |
| p.Cys511Arg | 6 | c.1531T>C | 1 | n.d. | 33 |
| p.Cys511Tyr | 6 | c.1532G>A | 2 | n.d. | 33 |
| p.Cys511X | 6 | c.1533C>A | 1 | n.d. | 49 |
| p.Gly512Cys | 6 | c.1534G>T | 1 | n.d. | 47 |
| p.Gly512Ser | 6 | c.1534G>A | 14 | absent | 7, 13, 23, 33, 57, 58, 76, 88, 93 |
| p.Lys513Gln | 6 | c.1537A>C | 2 | n.d. | 33, 69 |
| p.Lys513Arg | 6 | c.1538A>G | 1 | absent | 58 |
| p.Ser514Arg | 6 | c.1540A>C | 1 | n.d. | 63 |
| p.Ser514Gly | 6 | c.1540A>G | 1 | n.d. | 32 |
| p.Ser514Asn | 6 | c.1541G>A | 1 | reduced | 58 |
| p.Ser515Phe | 6 | c.1544C>T | 2 | n.d. | 8, 51 |
| p.Leu516Pro | 6 | c.1547T>C | 4 | absent | 33, 58, 71 |
| p.Leu516Leu | 6 | c.1548G>A |
polymorphism
|
||
| p.Arg518fsX39 | 6 | c.1551delC | 2 | n.d. | 6, 33 |
| p.Arg518Gly | 6 | c.1552C>G | 1 | n.d. | 64 |
| p.Arg518Trp | 6 | c.1552C>T | 11 | abs/red | 6, 7, 32, 33, 53, 58, 88 |
| p.Arg518Gln | 6 | c.1553G>A | 20 | absent | 9, 24, 32, 33, 49, 48, 53, 58, 60, 64, 88, 96 |
| p.Leu520Gln | 6 | c.1559T>A | 2 | n.d. | 54, 59 |
| p.Gly522Arg | 6 | c.1564G>A | 2 | absent | 7, 58 |
| p.Leu523Phe | 6 | c.1567C>T | 1 | n.d. | 96 |
| p.Leu523Pro | 6 | c.1568T>C | 1 | n.d. | 33 |
| p.Trp524Arg | 6 | c.1570T>C | 1 | n.d. | 33 |
| p.Trp524X | 6 | c.1571G>A | 1 | absent | 60 |
| p.Pro525Ala | 6 | c.1573C>G | 1 | n.d. | 33 |
| p.Pro525Ser | 6 | c.1573C>T | 1 | absent | 58 |
| p.Gly529del | 6 | c.1585-87delGGT | 1 | n.d. | 4 |
| p.Gly529fsX28 | 6 | c.1585delG | 2 | n.d. | 21, 62 |
| p.Gly529fsX24 | 6 | c.1586_90delGTGTG | 1 | absent | 49 |
| p.Gly529Ser | 6 | c.1585G>A | 1 | n.d. | 38 |
| p.Gly529Asp | 6 | c.1586G>A | 2 | n.d. | 33 |
| p.Tyr532fsX23 | 6 | c.1592_93insT | 1 | n.d. | 38 |
| p.Lys533Glu | 6 | c.1597A>G | 1 | absent | 60 |
| p.Lys533Asn | 6 | c.1599G>T | 1 | n.d. | 84 |
| p.Pro534Ser | 6 | c.1600C>T | 1 | n.d. | 33 |
| p.Pro534Arg | 6 | c.1601C>G | 2 | n.d. | 67, 86 |
| p.Pro534Leu | 6 | c.1601C>T | 1 | absent | 23 |
| p.Pro534fsX21 | 6 | c.1598_99insA | 1 | n.d. | 33 |
| p.Pro535fsX22 | 6 | c.1599delG | 1 | absent | 49 |
| p.Pro535fsX19 | 6 | c.1603_04delCC | 1 | n.d. | 64 |
| p.Pro535fsX68 | 6 | c.1603_1991del | 1 | absent | 16 |
| p.Pro536His | 6 | c.1607C>A | 1 | n.d. | 84 |
| p.Gln537X | 6 | c.1609C>T | 1 | n.d. | 96 |
| p.Phe540Ser | 6 | c.1619T>C | 1 | n.d. | 24 |
| p.Phe540Cys | 6 | c.1619T>G | 1 | n.d. | 96 |
| p.Ile542del | 6 | c.1624_26delATC | 1 | n.d. | 68 |
| p.Pro543fsX14 | 6 | c.1628delC | 1 | n.d. | 33 |
| p.Pro543Leu | 6 | c.1628C>T | 15 | absent | 27, 29, 33, 40, 49, 60, 65 |
| p.Gln544Lys | 6 | c.1630C>A | 1 | reduced | 58 |
| p.Gln544Arg | 6 | c.1631A>G | 5 | present | 9, 33, 24, 88 |
| p.Arg545fsX12 | 6 | c.1628_34duplication | 1 | absent | 49 |
| p.Arg545Trp | 6 | c.1633A>T | 1 | n.d. | 53 |
| p.Pro546fsX? | IVS6 | c.1634+1G>A | 3 | n.d. | 6, 60 |
| p.Pro546fsX? | IVS6 | c.1634+1G>C | 1 | n.d. | 49 |
| p.Pro546fsX? | IVS6 | c.1635-2A>G | 1 | absent | 11 |
| p.Ser552Pro | 7 | c.1654T>C | 1 | absent | 28 |
| p.Leu553Val | 7 | c.1657C>G | 1 | n.d. | 33 |
| p.Arg554His | 7 | c.1661G>A | 25 | 1 ± 0.5% | 28, 29, 33, 49, 52, 58, 60, 63, 64, 87, 88, 97 |
| p.Asp555Asn | 7 | c.1663G>A | 1 | n.d. | 52 |
| p.Gln556X | 7 | c.1666C>T | 1 | absent | 58 |
| p.Gln556Arg | 7 | c.1667A>G | 2 | n.d. | 40, 59 |
| p.Gln556fsX42 | 7 | c.1670_71delTG | 1 | n.d. | 49 |
| p.Ile558Thr | 7 | c.1673T>C | 1 | present | 72 |
| p.Tyr559Cys | 7 | c.1676A>G | 1 | n.d. | 33 |
| p.Pro560Ser | 7 | c.1678C>T | 1 | n.d. | 49 |
| p.Pro560Leu | 7 | c.1679C>T | 20 | reduced | 4, 7, 24, 33, 49, 71, 86, 88, 93, 96 |
| p.Pro560Arg | 7 | c.1679C>G | 1 | absent | 7 |
| p.Asp561Val | 7 | c.1682A>T | 1 | absent | 60 |
| p.Met566Lys | 7 | c.1697T>A | 1 | absent | 13 |
| p.Met566Thr | 7 | c.1697T>C | 1 | absent | 58 |
| p.Gln567X | 7 | c.1699C>T | 2 | n.d. | 33, 60 |
| p.Ser572_Asp575del | 7 | c.1714_1725del12 | 1 | n.d. | 81 |
| p.Ser572X | 7 | c.1715C>A | 1 | absent | 60 |
| p.Glu573fsX62 | 7 | c.1717delG | 1 | n.d. | 33 |
| p.Gln574X | 7 | c.1720C>T | 2 | absent | 53, 58 |
| p.Leu576Pro | 7 | c.1727T>C | 1 | n.d. | 93 |
| p.Val583fsX52 | 7 | c.1746delC | 1 | n.d. | 27 |
| p.Val583Gly | 7 | c.1748T>G | 1 | n.d. | 33 |
| p.Leu585Pro | 7 | c.1754T>C | 1 | n.d. | 68 |
| p.His586fsX49 | 7 | c.1755delG | 1 | n.d. | 62 |
| p.His587_Gln590del | 7 | c.1759_70del12 | 1 | n.d. | 24 |
| p.Leu589fsX46 | 7 | c.1765delC | 1 | n.d. | 49 |
| p.Gln590X | 7 | c.1768C>T | 2 | n.d. | 20, 88 |
| p.Arg591fsX44 | 7 | c.1771delC | 1 | n.d. | 33 |
| p.Arg591Trp | 7 | c.1771C>T | 5 | present | 24, 33, 53, 72 |
| p.Arg591Pro | 7 | c.1772G>C | 2 | absent | 49, 44 |
| p.Arg591Gln | 7 | c.1772G>A | 7 | present | 13, 33, 78 |
| p.Gly594Arg | 7 | c.1780G>C | 1 | n.d. | 83 |
| p.Trp595fsX? | IVS7 | c.1780+1G>A | 2 | n.d. | 7, 53 |
| p.Trp595fsX? | IVS7 | c.1780+2T>G | 2 | n.d. | 38, 58 |
| p.Trp595fsX? | IVS7 | c.1781-2A>G | 2 | n.d. | 32, 33 |
| p.Trp595fsX? | IVS7 | c.1781-1G>A | 1 | n.d. | 96 |
| p.Trp595fsX? | IVS7 | c.1781-1G>T | 1 | n.d. | 33 |
| p.Trp595X | 8 | c.1784G>A | 1 | n.d. | 33 |
| p.Trp595X | 8 | c.1785G>A | 2 | n.d. | 24, 59 |
| p.Ala597Gly | 8 | c.1790C>G | 1 | absent | 58 |
| p.Met598fsX1 | 8 | c.1791_92delTA | 1 | absent | 6 |
| Amino acids 601 – 745 | |||||
| p.Trp601X | 8 | c.1802G>A | 6 | absent | 27, 33, 53, 79 |
| p.Trp601X | 8 | c.1803G>A | 1 | n.d. | 33 |
| p.Lys602X | 8 | c.1804A>T | 1 | n.d. | 93 |
| p.Leu605Gln | 8 | c.1814T>A | 1 | n.d. | 64 |
| p.Leu605Pro | 8 | c.1814T>C | 1 | n.d | 33 |
| p.Ser606Pro | 8 | c.1816T>C | 3 | absent | 7, 72, 96 |
| p.Ser606Leu | 8 | c.1817C>T | 12 | 25 ± 1.5% | 6, 13, 24, 33, 49, 52, 57, 59, 60, 97 |
| p.Gly607fsX28 | 8 | c.1820delG | 1 | absent | 6 |
| p.Gly607Asp | 8 | c.1820G>A | 2 | present | 52, 58 |
| p.Gly608Ser | 8 | c.1822G>A | 1 | n.d. | 62 |
| p.Gly608Asp | 8 | c.1823G>A | 1 | n.d. | 48 |
| p.Glu609Lys | 8 | c.1825G>A | 14 | 2.1 ± 1.3% | 15, 16, 33, 49, 60, 62, 72, 88, 97 |
| p.Glu609Gly | 8 | c.1826A>G | 1 | 1.8 ± 0.9% | 16, 97 |
| p.Gln611His | 8 | c.1833G>C | 1 | n.d. | 33 |
| p.Ile613Asn | 8 | c.1838T>A | 1 | n.d. | 33 |
| p.Ala616Thr | 8 | c.1846G>A | 1 | 4.3 ± 1.7% | 32, 97 |
| p.Ala616Asp | 8 | c.1847C>A | 1 | n.d. | 90 |
| p.Ala616Val | 8 | c.1847C>T | 1 | n.d. | 29 |
| p.Arg617fsX18 | 8 | c.1849delC | 1 | absent | 60 |
| p.Arg617Cys | 8 | c.1849C>T | 14 | absent | 6, 15, 16, 33, 49, 59, 60, 86, 88 |
| p.Arg617Gly | 8 | c.1849C>G | 4 | n.d. | 15, 33, 64, 86 |
| p.Arg617Ser | 8 | c.1849C>A | 1 | n.d. | 92 |
| p.Arg617His | 8 | c.1850G>A | 20 | absent | 6, 13, 17, 33, 49, 57, 62, 88, 96 |
| p.Arg617Leu | 8 | c.1850G>T | 1 | absent | 60 |
| p.Tyr620fsX15 | 8 | c.1859delA | 1 | n.d. | 80 |
| p.Tyr620Cys | 8 | c.1859A>G | 1 | absent | 58 |
| p.Pro623fsX? | IVS8 | c.1865+1G>A | 1 | n.d. | 33 |
| p.Pro623fsX? | IVS8 | c.1865+1G>T | 1 | n.d. | 33 |
| p.Pro623fsX? | IVS8 | c.1866-15g>a | 1 | n.d. | 32 |
| p.Pro623fsX? | IVS8 | c.1866-10G>A | 10 | absent | 11, 29, 30, 32, 33, 58, 72 |
| p.Pro623fsX? | IVS8 | c.1866-2A>T | 1 | absent | 32 |
| p.Ala626Thr | 9 | c.1876G>A | 10 | absent | 22, 33, 49, 96 |
| p.Ala626Asp | 9 | c.1877C>A | 1 | n.d. | 49 |
| p.Leu628Pro | 9 | c.1883T>C | 2 | absent | 33, 60 |
| p.Asp629His | 9 | c.1885G>C | 1 | present | 22 |
| p.Glu630Lys | 9 | c.1888G>A | 1 | n.d. | 33 |
| p.Glu630Gly | 9 | c.1889A>G | 1 | n.d. | 49 |
| p.Cys631Arg | 9 | c.1891T>C | 4 | absent | 32, 33, 60 |
| p.Cys631Tyr | 9 | c.1892G>A | 4 | n.d. | 33, 49, 76, 93 |
| p.Cys631Trp | 9 | c.1893C>G | 1 | n.d. | 33 |
| p.Thr632Pro | 9 | c.1894A>C | 2 | n.d. | 33, 96 |
| p.Thr632Ile | 9 | c.1895C>T | 4 | present | 33, 49, 58 |
| p.Ser633fsX2 | 9 | c.1899delC | 1 | n.d. | 32 |
| p.Ser633Ile | 9 | c.1898G>T | 1 | absent | 48 |
| p.Ser633Arg | 9 | c.1899C>A | 2 | n.d. | 29, , 96 |
| p.Ser633Ser | 9 | c.1899C>T |
polymorphism
|
||
| p.Val635Met | 9 | c.1903G>A | 2 | present | 49, 58 |
| p.Val635delinsAlaMet | 9 | c.1903_04insCCA | 1 | present | 72 |
| p.Ser636fsX48 | 9 | c.1907_25del19 | 1 | n.d. | 32 |
| p.Ser636Ile | 9 | c.1907G>T | 2 | absent | 27, 42 |
| p.Asp638Tyr | 9 | c.1912G>T | 1 | n.d. | 38 |
| p.Glu640Lys | 9 | c.1918G>A | 2 | n.d. | 96 |
| p.Ile643fsX91 | 9 | c.1926-1927insCAAG | 1 | n.d. | 32 |
| p.Gln645X | 9 | c.1933C>T | 2 | absent | 22, 33 |
| p.Ala646Pro | 9 | c.1936G>C | 2 | n.d. | 29, 33 |
| p.Ala647fsX44 | 9 | c.1939_40insGG | 2 | absent | 71, 72 |
| p.Lys648X | 9 | c.1942A>T | 1 | n.d. | 84 |
| p.Ala650fsX82 | 9 | c.1948_49delGC | 1 | absent | 7 |
| p.Leu654Arg | 9 | c.1961T>G | 1 | n.d. | 33 |
| p.Leu654Pro | 9 | c.1961T>C | 2 | 1.5 ± 1.3% | 49, 62, 97 |
| p.Leu655Pro | 9 | c.1964T>C | 1 | reduced | 53 |
| p.Ser656Phe | 9 | c.1967C>T | 1 | absent | 60 |
| p.Ile657del | 9 | c.1969_71delATC | 1 | n.d. | 16 |
| p.Ile657del | 9 | c.1970_72delTCA | 1 | n.d. | 33 |
| p.Thr658Ile | 9 | c.1973C>T | 1 | absent | 58 |
| p.Arg660Trp | 9 | c.1978C>T | 20 | 1.6 ± 0.8% | 7, 13, 16, 23, 24, 32, 33, 49, 53, 57, 60, 88, 97 |
| p.Arg660Gln | 9 | c.1979G>A | 1 | absent | 72 |
| p.Arg660Pro | 9 | c.1979G>C | 1 | n.d. | 48 |
| p.Pro661fsX70 | 9 | c.1982-1983delCC | 1 | n.d. | 32 |
| p.Leu663Gln | 9 | c.1988T>A | 1 | reduced | 58 |
| p.Trp664fsX69 | 9 | c.1988_89insT | 1 | n.d. | 49 |
| p.Lys665fsX? | IVS9 | c.1991+1G>A | 1 | n.d. | 49 |
| p.Lys665fsX? | IVS9 | c.1991+2T>C | 1 | n.d. | 49 |
| p.Lys665fsX? | IVS9 | c.1992-1G>A | 1 | n.d. | 49 |
| p.Lys665Glu | 10 | c.1993_95delinsGAG | 1 | present | 72 |
| p.Tyr666Ser | 10 | c.1997A>C | 1 | n.d. | 58 |
| p.Tyr666X | 10 | c.1998C>G | 1 | n.d. | 33 |
| p.His667Asp | 10 | c.1999C>G | 3 | 2.9 ± 1% | 49, 62, 90, 97 |
| p.His667Arg | 10 | c.2000A>G | 1 | n.d | 33 |
| p.His667Leu | 10 | c.2000A>T | 1 | reduced | 53 |
| p.His669fsX63 | 10 | c.1999_2000delCA | 1 | n.d. | 29 |
| p.Thr668Pro | 10 | c.2002A>C | 1 | n.d. | 33 |
| p.Thr668Ile | 10 | c.2003C>T | 2 | absent | 49 |
| p.His669fsX63 | 10 | c.2006_2007delAC | 1 | n.d. | 33 |
| p.His669Arg | 10 | c.2006A>G | 3 | absent | 33, 58 |
| p.His669Gln | 10 | c.2007C>G | 1 | n.d. | 58 |
| p.Leu671fsX62 | 10 | c.2010_11insT | 1 | n.d. | 33 |
| p.Gln672X | 10 | c.2014C>T | 3 | absent | 25, 33, 88 |
| p.Phe673Phe | 10 | c.2019C>T |
polymorphism
|
||
| p.Glu676X | 10 | c.2026G>T | 2 | n.d. | 33 |
| p.Gly677Asp | 10 | c.2030G>A | 1 | n.d. | 96 |
| p.Trp679Arg | 10 | c.2035T>C | 2 | n.d. | 14, 88 |
| p.Trp679X | 10 | c.2036G>A | 1 | n.d. | 84 |
| p.Trp679X | 10 | c.2037G>A | 2 | n.d. | 32, 33 |
| p.Leu684Pro | 10 | c.2051T>C | 1 | n.d. | 33 |
| p.Leu690fsX64 | 10 | c.2060_2199del139 | 1 | n.d. | 32 |
| p.Thr693Met | 10 | c.2078C>T | 1 | present | 49 |
| 3′UTR (stop+8) | 10 | c.2238+8C>G |
polymorphism
|
||
Legend: All mutations are arranged according to their amino acid positions. The column headed ALDP indicates the presence or absence of ALDP in fibroblasts as indicated by immunofluorescence and /or immunoblotting. (n.d.) = 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). 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.
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