Table 1 Mutations of OA1. The amino acid changes were deduced from the genomic sequence.
From: Eight previously unidentified mutations found in the OA1ocular albinism gene
Patient | Nucleotide change | Amino acid change | Exon | Protein domain | Reference |
|---|---|---|---|---|---|
A (familial case) | 401T->C | L134P | 3 | TMIII | [12] |
B (Canadian sporadic case) | 853A->T | R285X | 7 | l3 | [12] |
C (French familial case) | 241G->T | G81V | 1 | TMII | Previously unidentified mutation |
D (Canadian sporadic case) | 348C->G | C116W | 2 | l1 | Previously unidentified mutation |
E (French sporadic case) | 497C->A | T166N | 4 | TMIV | Previously unidentified mutation |
F (French sporadic case) | 163_170dupGCGGGCCC | G58fsX29 (Frameshift) | 1 | i1 | Previously unidentified mutation |
G (French sporadic case) | 504_505delCT | L168fsX58 (Frameshift) | 4 | TMIV | Previously unidentified mutation |
H (Canadian sporadic case) | 601_602insT | P201fsX25 (Frameshift) | 5 | TMV | Previously unidentified mutation |
I (Canadian sporadic case) | 547+2T->A | Splice site mutation | 4 | TMIV | Previously unidentified mutation |
J (Canadian sporadic case) | 886-2A->T | Splice site mutation | 8 | l3 | Previously unidentified mutation |