Table 2 of
Gamundi, Mol Vis 2005;
11:922-928.Table 2 of
Gamundi, Mol Vis 2005;
11:922-928.
Table 2. Sequence variations in the FSCN2 gene in Spanish patients of RP
Sequence variations detected in the FSCN2 gene in Spanish patients. adRP is autosomal dominant retinitis pigmentosa, adMD is autosomal dominant macular dystrophy, SRP is sporadic retinitis pigmentosa. Controls are individuals from a control population.
adMD SRP
Nucleotide Amino acid adRP cases cases cases Controls
Exon change change (n=150) (n=15) (n=50) (n=50)
---- ---------- ----------- ---------- --------- -------- --------
1A 98->C In promoter 51 (34.2%) 5 (33.3%) 20 (40%) 20 (40%)
155 C->T His7Tyr 1 (0.7%)
286 C->G Pro50Pro 1 (0.7%)
1B 469 C->T Phe111Phe 4 (2.7%) 1 (6.7%) 2 (4%)
500 G->A Ala122Thr 1 (0.7%)
513 C->T Ser126Phe 1 (0.7%)
548 C->T His138Tyr 1 (6.7%) 1 (2%)
572 G->A Val146Met 1 (2%)
582 G->A Arg149Gln 1 (0.7%)
589 C->T Tyr151Tyr 2 (1.3%) 2 (13.3%) 1 (2%)
1C 854 G->A Ala240Thr 1 (6.7%)
874 T->C Pro246Pro 2 (1.3%)
2 1040 A->T Lys302Stop 1 (0.7%)
1102 C->T His322His 1 (0.7%)
1103 G->A Ala323Thr 19 (12.7%) 2 (13.3%) 3 (6%) 6 (12%)
3 1127 A->C Asn331His 1 (0.7%)
1183 C->T Asn349Asn 2 (1.3%) 2 (13.3%) 2 (4%)
1235 T->C Phe367Leu 1 (0.7%)
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