PMID: 23504663

DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

Human mutation
DR Simeonov, X Wang, C Wang, Y Sergeev, M Dolinska, M Bower, R Fischer, D Winer, G Dubrovsky, JZ Balog, M Huizing, R Hart, WM Zein, WA Gahl, BP Brooks, DR Adams
2013-06

38 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-28267738-T-C OCA2 c.574-19A>G - IntronicSNV - 5/23
11-89017963-AG-GT TYR c.1207_1208delAGinsGT p.Arg403Val Missense 4/5 -
15-28235717-C-A OCA2 c.1116+5G>T - IntronicSNV - 10/23
15-28196984-C-T OCA2 c.1897G>A p.Val633Ile Missense 18/24 -
11-89017961-G-A TYR c.1205G>A p.Arg402Gln Missense 4/5 -
15-28231761-G-A OCA2 c.1211C>T p.Thr404Met Missense 12/24 -
11-88961104-C-G TYR c.1150C>G p.Pro384Ala Missense 3/5 -
11-88911938-C-CGA TYR c.817_818insGA - SpliceDonorInsertion 1/5 -
11-89018065-G-A TYR c.1309G>A p.Asp437Asn Missense 4/5 -
15-28171301-A-C OCA2 c.2051T>G p.Phe684Cys Missense 19/24 -
15-28230254-C-G OCA2 c.1320G>C p.Leu440Phe Missense 13/24 -
15-28326942-C-T OCA2 c.79G>A p.Gly27Arg Missense 2/24 -
11-88961044-A-C TYR c.1090A>C p.Asn364His Missense 3/5 -
15-28230318-C-T OCA2 c.1256G>A p.Arg419Gln Missense 13/24 -
11-88911350-C-T TYR c.229C>T p.Arg77Trp Missense 1/5 -
11-88924442-C-T TYR c.892C>T p.Arg298Trp Missense 2/5 -
11-88961092-ATCTGCCAACGATCCTATCTTC-A TYR c.1138_1158del21 p.Ser380_phe386del InFrameDeletion 3/5 -
11-88911831-GA-G TYR c.710delA p.Asp237Alafs*82 Frameshift 1/5 -
11-88961139-G-A TYR c.1184+1G>A - IntronicSNV - 3/4
11-88924373-G-T TYR c.823G>T p.Val275Phe Missense 2/5 -
11-88924368-A-G TYR c.820-2A>G - IntronicSNV - 1/4
11-88911153-G-A TYR c.32G>A p.Trp11* Nonsense 1/5 -
11-88911300-T-G TYR c.179T>G p.Leu60Arg Missense 1/5 -
11-88961072-C-A TYR c.1118C>A p.Thr373Lys Missense 3/5 -
5-33984510-A-C SLC45A2 c.179T>G p.Leu60Arg Missense 1/7 -
9-12698576-C-G TYRP1 c.834C>G p.Ser278Arg Missense 4/8 -
11-89028411-T-TT TYR c.1467_1467dupT p.Ala490Cysfs*20 Frameshift 5/5 -
11-88924528-AA-A TYR c.978delA p.Gln326Hisfs*29 Frameshift 2/5 -
9-12694066-G-A TYRP1 c.70G>A p.Ala24Thr Missense 2/8 -
15-28196980-A-T OCA2 c.1901T>A p.Ile634Asn Missense 18/24 -
11-88911256-C-CC TYR c.135dupC p.Cys46Leufs*31 Frameshift 1/5 -
15-28171315-C-G OCA2 c.2037G>C p.Trp679Cys Missense 19/24 -
15-28230319-G-A OCA2 c.1255C>T p.Arg419Trp Missense 13/24 -
5-33963850-G-C SLC45A2 c.834C>G p.Tyr278* Nonsense 3/7 -
11-88911270-C-T TYR c.149C>T p.Ser50Leu Missense 1/5 -
11-88961018-C-T TYR c.1064C>T p.Ala355Val Missense 3/5 -
15-28230247-C-T OCA2 c.1327G>A p.Val443Ile Missense 13/24 -
11-89028413-C-A TYR c.1469C>A p.Ala490Asp Missense 5/5 -