PMID: 14961451

Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.

American journal of human genetics
K Inagaki, T Suzuki, H Shimizu, N Ishii, Y Umezawa, J Tada, N Kikuchi, M Takata, K Takamori, M Kishibe, M Tanaka, Y Miyamura, S Ito, Y Tomita
2004-03

8 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
5-33944827-C-A SLC45A2 c.1519G>T p.Val507Leu Missense 7/7 -
5-33982446-C-T SLC45A2 c.457G>A p.Asp153Asn Missense 2/7 -
5-33982434-C-T SLC45A2 c.469G>A p.Asp157Asn Missense 2/7 -
5-33963870-C-T SLC45A2 c.814G>A p.Glu272Lys Missense 3/7 -
5-33944827-C-G SLC45A2 c.1519G>C p.Val507Leu Missense 7/7 -
5-33964121-C-A SLC45A2 c.563G>T p.Gly188Val Missense 3/7 -
5-33944848-T-G SLC45A2 c.1498A>C p.Thr500Pro Missense 7/7 -
5-33984517-G-A SLC45A2 c.172C>T p.Pro58Ser Missense 1/7 -