Table 2 of
Zhuk, Mol Vis 2006;
12:811-815.Table 2 of
Zhuk, Mol Vis 2006;
12:811-815.
Table 2. RDS sequence variants found in the study subjects including a P210R mutation in subject 2
This table presents the DNA sequence variation observed within the gene encoding Peripherin/RDS. Only one sequence variant (P210R) was consistent with a mutation. Sequence variants E304Q, K310R, G338D were previously described [25].
Nucleotide Amino acid Number of Homozygous Heterozygous variation variation patients (%) Subjects subjects refSNP ------------ ---------- ------------ -------- ----------- ------------ c.555C>T V106V 8 (66.7%) 9,11 1,2,3,7,6,8 rs7764439 c.819-85G>A None 4 (33.3%) 1,3,5,6 c.819-67T>A None 4 (33.3%) 1,3,5,6 rs3818086 c.819-58A>G None 4 (33.3%) 1,3,5,6 rs3818087 c.866C>G P210R 1 (8.3%) 2 Mutation c.1066-48C>T None 3 (25.0%) 2,4,10 c.1147G>C E304Q 3 (25.0%) 3,9,11 rs390659 c.1166A>G K310R 2 (16.7%) 9,11 rs425876 c.1250G>A G338D 3 (25.0%) 3,9,11 rs434102 |