Table 4 of
Sundaresan, Mol Vis 2004;
10:1005-1010.
Table 4. TYR gene mutations in patients with oculocutaneous albinism 1 (OCA1) in Indian families
The table describes the variants identified in TYR gene with the predicted amino acid changes in Indian OCA1 families. The base position refers to positions relative to nucleotide position 1 of the first codon in the mRNA sequence. This is the first report of the two frame shift mutations.
Base Codon/ Nucleotide Amino acid Type of position mutation Exon change substitution mutation Reference --------- ---------- ---- ------------ ------------ -------- --------- 832 R278X 2 CGA -> TGA Arg -> term Nonsense [12] 937- 944 -DCCCTCTTC 2 Delete Term 312 Frame CCCTCTTC shift 1379-1380 -D TT460 5 Delete TT Term 460 Frame shift |