Table 3 of
Zhuk, Mol Vis 2006;
12:811-815.Table 3 of
Zhuk, Mol Vis 2006;
12:811-815.
Table 3. VMD2 sequence variants found in the study subjects
This table shows the DNA sequence variants found within the gene encoding Bestrophin (VMD2). No sequence variation was consistent with being a mutation. The protein sequence is numbered following NP_004174 and the nucleotide sequence following NM_004183. Asterisk represents complex variation: c.819[-19C>A]+[-19_-18ins(TCC)3].
Nucleotide Amino acid Number of Homozygous Heterozygous variation variation patients (%) Subjects subjects refSNP ------------ ---------- ------------ ----------- --------------- ------------ c.23C>T None 1 (9.09%) 7 c.213T>C L37L 8 (72.7%) 4 1,3,7,6,9,11,12 rs1800007 c.317C>T S71S 1 (9.09%) 7 c.323C>A I73I 1 (9.09%) 1 rs1109748 c.586-24C>T None 6 (54.5%) 1,3,4,6,11,12 rs760306 c.740+28C>T None 4 (36.3%) 5,6,8,9 c.819-19* None 1 (9.09%) 10 rs1805182 c.1052+79G>A None 1 (9.09%) 7 c.1127C>T P341P 1 (9.09%) 11 rs1801390 c.1514G>A T470T 10 (90.9%) 1,8,9,11,12 3,4,5,6,7 c.1661C>T S519S 5 (45.5%) 3,5,8,11,12 c.1712T>C T536T 7 (63.6%) 4 1,3,5,6,11,12 |