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

Sundaresan, Mol Vis 2004; 10:1005-1010 <http://www.molvis.org/molvis/v10/a119/>
©2004 Molecular Vision <http://www.molvis.org/molvis/>
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