New mutations

March 1st, 2017 |

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
170301 c.346G>A p.Gly116Arg exon 1 1 n.d. 145
170301 c.442_444delinsTGTTGA p.Asn148_Thr745delinsCys exon 1 1 n.d. 145 New mutation
170301 c.506A>C p.His169Pro exon 1 1 n.d. 145 New mutation
170301 c.521A>C p.Tyr174Ser exon 1 1 n.d. 145
170301 c.612del p.Phe204Leufs*12 exon 1 1 n.d. 145 New mutation
170301 c.652C>A p.Pro218Thr exon 1 1 n.d. 145
170301 c.[686T>C; 1679C>T] p.[Leu229Pro;Pro560Leu] exon 1 1 n.d. 145 New mutation
170301 c.686T>C p.Leu229Pro exon 1 1 n.d. 145
170301 c.853C>G p.Arg285Gly exon 1 1 n.d. 145 New mutation
170301 c.872A>G p.Glu291Gly exon 1 1 n.d. 145 New mutation
170301 c.1008G>C p.Lys336Asn exon 2 1 n.d. 145 New mutation
170301 c.1016G>C p.Trp339Ser exon 2 1 n.d. 145 New mutation
170301 c.1076_77delAG p.Glu359Argfs*41 exon 2 1 n.d. 145
170301 c.1201C>T p.Arg401Trp exon 3 1 n.d. 145
170301 c.1214C>A p.Ser405* exon 3 1 n.d. 145 New mutation
170301 c.1252C>T p.Arg418Trp exon 4 1 n.d. 145
170301 c.1268T>C p.Phe423Ser exon 4 1 n.d. 145 New mutation
170301 c.1415_16delAG p.Gln472Argfs*83 exon 5 2 n.d. 145
170301 c.1541G>A p.Ser514Asn exon 6 1 n.d. 145
170301 c.1628C>T p.Pro543Leu exon 6 1 n.d. 145
170301 c.1679C>T p.Pro560Leu exon 7 1 n.d. 145
170301 c.1747_1759del p.Val583Thrfs*49 exon 7 n.d. 145 New mutation
170301 c.1772G>T p.Arg591Leu exon 7 n.d. 145
170301 c.1849C>T p.Arg617Cys exon 8 n.d. 145
170301 c.1850G>A p.Arg617His exon 8 n.d. 145
170301 c.1866-10g>A p.Pro623fs*? IVS 8 n.d. 145
170301 c.1876G>A p.Ala626Thr exon 9 n.d. 145
170301 c.1885G>A p.Asp629Asn exon 9 n.d. 145 New mutation
170301 c.1888G>A p.Glu630Lys exon 9 n.d. 145
170301 c.1903_04insCCA p.Val635delinsAlaMet exon 9 n.d. 145
170301 c.1978C>T p.Arg660Trp exon 9 n.d. 145
170301 c.2006A>G p.His669Arg exon 10 n.d. 145
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

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

142 Wang et al (2016) Sci Report
143 Green et al (2016) Pract Neurol
145 Laboratory of Molecular Medicine, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu’ Children’s Research Hospital, Rome, Italy. Contact person: Chiara Aiello, PhD (phone: +390668592103). Unpublished data

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