PMID: 22294196

Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.

Molecular medicine reports
JM Ko, JA Yang, SY Jeong, HJ Kim
2012-04

13 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
5-33982425-C-G SLC45A2 c.478G>C p.Asp160His Missense 2/7 -
11-88924446-G-A TYR c.896G>A p.Arg299His Missense 2/5 -
11-88961101-G-A TYR c.1147G>A p.Asp383Asn Missense 3/5 -
11-88924479-C-CC TYR c.929_929dupC p.Arg311Lysfs*7 Frameshift 2/5 -
5-33982434-C-T SLC45A2 c.469G>A p.Asp157Asn Missense 2/7 -
5-33984412-C-T SLC45A2 c.277G>A p.Asp93Asn Missense 1/7 -
11-88911276-G-T TYR c.155G>T p.Arg52Ile Missense 1/5 -
11-88960984-T-A TYR c.1037-7T>A - IntronicSNV - 2/4
11-88911276-G-C TYR c.155G>C p.Arg52Thr Missense 1/5 -
11-88911276-G-A TYR c.155G>A p.Arg52Lys Missense 1/5 -
11-88911351-G-A TYR c.230G>A p.Arg77Gln Missense 1/5 -
11-88960981-TT-T TYR c.1037-10delT - IntronicDeletion - 2/4
11-88924382-C-T TYR c.832C>T p.Arg278* Nonsense 2/5 -