New mutations

November 8th, 2016 |

New mutations added to the database

The ALD database reports all mutations conform to the nomenclature recommended by the Human Genome Variation Society. All mutations, including those already published, are annotated using the “Alamut Visual” software package. The column headed ALDP indicates the effect of the mutation on the ALD protein assessed in fibroblasts by immunofluorescence and /or protein blot analysis. (n.d.) = unknown, no data provided.

Entry Date Allele Mutation Exon N ALDP Reference
161108 c.290A>C p.His97Pro exon 1 1 n.d. 142
161108 c.1399-1404del p.Val467_Val468del exon 5 1 n.d. 143 New mutation
161108 c.1445T>A p.Val482Asp exon 5 1 n.d. 142 New mutation
160418 c.50G>A p.Arg17His exon 1 1 present non-pathogenic 139
160418 c.253dup p.Arg85Profs*110 exon 1 1 n.d. 138
160418 c.1072T>C p.Ser358Pro exon 2 1 present non-pathogenic 139
160331 c.234_242dupCCTGCGGCT p.Arg80_Leu82dup exon 1 1 n.d. 33 New mutation
160331 c.320T>C p.Leu107Pro exon 1 1 n.d. 33
160331 c.346G>A p.Gly116Arg exon 1 2 n.d. 33
160331 c.359G>C p.Arg120Pro exon 1 1 n.d. 33
160331 c.411G>A p.Trp137* exon 1 1 n.d. 33
160331 c.421G>A p.Ala141Thr exon 1 1 n.d. 33
160331 c.439_441delGTC p.Val147del exon 1 1 n.d. 33 New mutation
160331 c.443A>G pp.Asn148Ser exon 1 1 n.d. 33
160331 c.488G>T p.Arg163Leu exon 1 1 n.d. 33
160331 c.495_514del20 p.Leu166Profs*22 exon 1 1 n.d. 33 New mutation
160331 c.508G>A p.Ala170Thr exon 1 1 n.d. 33 New mutation
160331 c.521A>G p.Tyr174Cys exon 1 1 n.d. 33
160331 c.578C>G p.Pro193Arg exon 1 1 n.d. 33 New mutation
160331 c.580G>A p.Asp194Asn exon 1 1 n.d. 33
160331 c.614C>A p.Ala205Glu exon 1 1 n.d. 33
160331 c.632T>C p.Leu211Pro exon 1 1 n.d. 33
160331 c.652C>T p.Pro218Ser exon 1 1 n.d. 33 New mutation
160331 c.662_702del41 p.Asp221Valfs*66 exon 1 1 n.d. 33 New mutation
160331 c.686T>C p.Leu229Pro exon 1 1 n.d. 33
160331 c.691C>T p.Arg231Trp exon 1 1 n.d. 33
160331 c.734C>A p.Ala245Asp exon 1 1 n.d. 33
160331 c.742_45delGGCC p.Gly248Serfs*87 exon 1 1 n.d. 33
160331 c.796G>A p.Gly266Arg exon 1 2 n.d. 33
160331 c.992A>G p.Glu331Gly exon 2 1 n.d. 33 New mutation
160331 c.1015T>C p.Trp339Arg exon 2 1 n.d. 33 New mutation
160331 c.1090delG p.Ala364Profs*2 exon 3 1 n.d. 33 New mutation
160331 c.1166G>A p.Arg389His exon 3 1 n.d. 33
160331 c.1175T>C p.Leu392Pro exon 3 1 n.d. 33 New mutation
160331 c.1179_1180delAG p.Ala394Glyfs*6 exon 3 1 n.d. 33 New mutation
160331 c.1202G>A p.Arg401Gln exon 3 1 n.d. 33
160331 c.1225-7_1239del22 p.Val409fs*? IVS 3 1 n.d. 33
160331 c.1390_1391insA p.Arg464Glnfs*92 exon 4 1 n.d. 33 New mutation
160331 c.1415_16delAG p.Gln472Argfs*83 exon 5 6 n.d. 33
160331 c.1454C>A p.Ser485* exon 5 1 n.d. 33 New mutation
160331 c.1455_59delAGGAGinsGGGA p.Glu487Argfs*71 exon 5 1 n.d. 33 New mutation
160331 c.1534G>A p.Gly512Ser exon 6 1 n.d. 33
160331 c.1534G>C p.Gly512Arg exon 6 1 n.d. 33 New mutation
160331 c.1552C>T p.Arg518Trp exon 6 3 n.d. 33
160331 c.1553G>A p.Arg518Gln exon 6 4 n.d. 33
160331 c.1581C>A p.Tyr527* exon 6 1 n.d. 33
160331 c.1635-2a>g p.Pro546fs*? IVS 6 1 n.d. 33
160331 c.1635-1g>a p.Pro546fs*? IVS 6 1 n.d. 33 New mutation
160331 c.1679C>T p.Pro560Leu exon 7 1 n.d. 33
160331 c.1684T>C p.Ser562Pro exon 7 1 n.d. 33 New mutation
160331 c.1768C>T p.Gln590* exon 7 2 n.d. 33
160331 c.1771C>T p.Arg591Trp exon 7 1 n.d. 33
160331 c.1817C>T p.Ser606Leu exon 8 2 n.d. 33
160331 c.1820_1823delGTGG p.Gly607Alafs*28 exon 8 1 n.d. 33 New mutation
160331 c.1825G>A p.Glu609Lys exon 8 2 n.d. 33
160331 c.1850G>A p.Arg617His exon 8 3 n.d. 33
160331 c.1866-10g>a p.Pro623fs*? IVS 8 1 n.d. 33
160331 c.1933dupC p.Gln645Profs*89 exon 9 1 n.d. 33 New mutation
160331 c.1973C>T p.Thr658Ile exon 9 1 n.d. 33
160331 c.1978C>T p.Arg660Trp exon 9 1 n.d. 33
160331 c.1991+68_1992-4del p.Lys665fs*? IVS 9 1 n.d. 33 New mutation
160331 c.1998C>A p.Tyr666* exon 10 1 n.d. 33 New mutation
160331 c.1999C>G p.His667Asp exon 10 1 n.d. 33
160331 exon1del exon1del exon 1 1 n.d. 33
160331 exon2del exon2del exon 2 1 n.d. 33
160331 exon6-10del exon6-10del exon 6 – 10 1 n.d. 33
160316 c.220C>T p.Arg74Trp exon 1 1 n.d. 134
160316 c.311G>A p.Arg104His exon 1 1 n.d. 132
160316 c.320T>G p.Leu107Arg exon 1 1 n.d. 134 New mutation
160316 c.323C>T p.Ser108Leu exon 1 1 n.d. 137
160316 c.346G>T p.Gly116* exon 1 1 n.d. 137 New mutation
160316 c.347G>A p.Gly116Glu exon 1 1 n.d. 137
160316 c.649A>T p.Lys217* exon 1 1 n.d. 134 New mutation
160316 c.905A>T p.Glu302Val exon 2 1 n.d. 134 New mutation
160316 c.906G>C p.Glu302Asp exon 2 1 n.d. 137 New mutation
160316 c.965T>C p.Leu322Pro exon 2 1 n.d. 135
160316 c.1174_1181delinsAAT p.Leu392Asnfs*7 exon 3 1 n.d. 130
160316 c.1202G>A p.Arg401Gln exon 3 1 n.d. 131
160316 c.1205T>A p.Ile402Asn exon 3 1 n.d. 124 New mutation
160316 c.1393+1g>a p.Val425fs*92 IVS 4 1 n.d. 135 New mutation
160316 c.1396C>T p.Gln466* exon 5 1 n.d. 137
160316 c.1478T>C p.Leu493Pro exon 5 1 n.d. 134
160316 c.1532G>A p.Cys511Tyr exon 6 1 n.d. 137
160316 c.1541G>T p.Ser514Ile exon 6 1 n.d. 134 New mutation
160316 c.1552C>T p.Arg518Trp exon 6 1 n.d. 133
160316 c.1601C>G p.Pro534Arg exon 6 1 n.d. 132
160316 c.1634+1g>a p.Pro546fs*? IVS 6 1 n.d. 132
160316 c.1679C>T p.Pro560Leu exon 7 1 n.d. 136
160316 c.1772G>T p.Arg591Leu exon 7 1 n.d. 134 New mutation
160316 c.1783T>C p.Trp595Arg exon 8 1 n.d. 134 New mutation
160316 c.1802G>A p.Trp601* exon 8 1 n.d. 134
160316 c.1840G>C p.Gly614Arg exon 8 1 n.d. 134 New mutation
160316 c.1858T>C p.Tyr620His exon 8 1 n.d. 134
160316 c.1978C>T p.Arg660Trp exon 9 1 n.d. 135
160316 c.2006A>G p.His669Arg exon 10 1 n.d. 135
160316 exon2del exon2del exon 2 1 n.d. 134
160316 exon5del exon5del exon 5 1 n.d. 134
160113 c.310C>T p.Arg104Cys exon 1 2 n.d. 125
160113 c.375_378del p.Lys125Asnfs*72 exon 1 1 n.d. 123 New mutation
160113 c.424delC p.Leu142Serfs*56 exon 1 1 n.d. 125 New mutation
160113 c.473T>C p.Leu158Pro exon 1 1 n.d. 125
160113 c.532C>T p.Gln178* exon 1 1 n.d. 125 New mutation
160113 c.887A>G p.Tyr296Cys exon 1 1 n.d. 125
160113 c.892G>C p.Gly298Arg exon 1 1 n.d. 125 New mutation
160113 c.893G>A p.Gly298Asp exon 1 1 n.d. 125
160113 c.901-1g>a p.Val301fs*? IVS 1 1 n.d. 125
160113 c.919C>T p.Gln307* exon 2 1 n.d. 127
160113 c.947A>C p.Gln316Pro exon 2 1 n.d. 129 New mutation
160113 c.974T>C p.Leu325Pro exon 2 1 n.d. 125
160113 c.1017G>T p.Trp339Cys exon 2 1 n.d. 125 New mutation
160113 c.1183delG p.Ala395Leufs*15 exon 3 1 n.d. 125 New mutation
160113 c.1202G>A p.Arg401Gln exon 3 2 n.d. 125, 126
160113 c.1400_1405del p.Val467_Val468del exon 5 1 n.d. 128 New mutation
160113 c.1415_16delAG p.Gln472Argfs*83 exon 5 1 n.d. 125
160113 c.1421T>C p.Ile474Thr exon 5 1 n.d. 125
160113 c.1428C>A p.Cys476* exon 5 1 n.d. 125 New mutation
160113 c.1534G>A p.Gly512Ser exon 6 1 n.d. 124
160113 c.1538A>G p.Lys513Arg exon 6 1 n.d. 125
160113 c.1544C>A p.Ser515Tyr exon 6 1 n.d. 125 New mutation
160113 c.1552C>T p.Arg518Trp exon 6 1 n.d. 125
160113 c.1640A>G p.Tyr547Cys exon 7 1 n.d. 124
160113 c.1677C>G p.Tyr559* exon 7 1 n.d. 122 New mutation
160113 c.1759_1761dup p.His587dup exon 7 1 n.d. 125 New mutation
160113 c.1850G>A p.Arg617His exon 8 1 n.d. 125
160113 c.1866-10g>a p.Pro623fs*? IVS 8 1 n.d. 125

Legend: Mutations are arranged according to their nucleotide position. All mutations (including those that have been published in the past) are annotated using Alamut software using transcript NM_000033.3 on GRCh38 (hg38) as reference sequence. The column headed “ALDP” indicates the effect of the mutation on the ALD protein assessed in fibroblasts by immunofluorescence and /or protein blot analysis. (n.d.) = unknown, no information provided.
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.
Mutations have no predictive value with respect to the clinical outcome of an asymptomatic patient.

References

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 Johns Hopkins DNA Diagnostic Lab, Institute of Genetic Medicine, Baltimore, MD, USA. Contact person: Dr. S.J.S. Steinberg (e-mail: S.J.Steinberg [at_symbol] jhmi.edu). Unpublished data
124 Guran et al (2015) J Clin Endocrinol Metab
125 Chu et al (2015) World J Pediatr
126 İncecik et al (2014) Turk J Pediatr
127 Traficante et al (2015) Clin Case Rep
128 Dr. Rajith De Silva. Essex Centre for Neurological Sciences, Queen’s Hospital, Romford, UK (manuscript in preparation)
129 Kallabi et al (2015) Clin Chim Acta
130 Koutsis et al (2015) J Neurol Sci
131 Horn et al (2016) Clin Case Rep
132 Ping et al (2006) Beijing Da Xue Xue Bao
133 Guettsches et al (2010) J Neurol
134 Shimozawa et al (2011) J Hum Genet
135 Hung et al (2013) Pediatr Neurol
136 Jack et al (2013) Case Rep Neurol Med
137 Ping et al (2007) Zhonghua Er Ke Za Zhi
138 Karimzadeh et al (2016) Iran J Child Neurol
139 Schackmann et al (2016) Mol Genet Metab
142 Wang et al (2016) Sci Report
143 Green et al (2016) Pract Neurol

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