GENETIC ENCYCLOPEDIA
ABOUT US    

   

NM_016180.5(SLC45A2):c.469G>A (p.Asp157Asn) AND Oculocutaneous albinism type 4

Significance: Pathogenic
ClinVar: RCV000004761

Variant: NM_016180.5(SLC45A2):c.469G>A (p.Asp157Asn)

Type: Variant
Allele: NM_016180.5(SLC45A2):c.469G>A (p.Asp157Asn) 19542
Gene:
Type: single nucleotide variant
Location: Chr5: 33982434 - assembly GRCh37
Chr5: 33982329 - assembly GRCh38
References: dbSNP: 121912621
OMIM: 606202.0006
UniProtKB: Q9UMX9#VAR_022712

Condition

Disease: Oculocutaneous albinism type 4

Citations

    In 2 Japanese patients with oculocutaneous albinism type IV (OCA4; 606574), Inagaki et al. (2004) identified homozygosity for a G-to-A transition in exon 2 of the MATP gene, resulting in an asp157-to-asn (D157N) substitution. The mutation occurs at the first residue in the second cytoplasmic loop of the protein. Ten other patients had 1 D157N mutant allele; the allele frequency of D157N in all patients with OCA4 was 0.39, indicating that it is the most common mutant allele in Japanese patients with OCA4.
PMID:14961451
    Inagaki et al. (2005) investigated the haplotypes of 20 alleles carrying the D157N mutation from 1 Korean and 21 Japanese OCA4 patients and found 1 Korean and 12 Japanese alleles to be associated with so-called 'haplotype 15' (G-A-G-A-G), consistent with a founder effect for the D157N mutation in East Asia.
PMID:16162179