Table 2 of
Men, Mol Vis 2017; 23:695-706. Table 2 of
Men, Mol Vis 2017; 23:695-706.
Table 2. Additional IRD gene variants in CACNA1F patients.
| Patient ID | Gene | Transcript | Zygosity | cDNA position | Protein change | Polyphen-2 | SIFT | Provean | MutationTaster | dbSNP | ExAC Frequency |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | SEMA4A | NM_022367.3 | heterozygous | c.2138G>A | p.(Arg713Gln) | Possibly damaging | Tolerated | Neutral | Polymorphism | rs41265017 | A=4,297/ G=121,356 |
| PDE6A | NM_000440.2 | heterozygous | c.251A>T | p.(Lys84Met) | Benign | Damaging | Deleterious | Polymorphism | NA | T=11/ A=121,396 | |
| PDE6B | NM_000283.3 | heterozygous | c.1412C>T | p.(Ala471Val) | Benign | Damaging | Neutral | Polymorphism | rs182071364 | T=17/ C=119,914 | |
| RPGR a | NM_001034853.1 | hemizygous | c.1163C>T | p.(Ala388Val) | Benign | Tolerated | Neutral | Polymorphism | rs199661899 | T=16/ C=85,833 | |
| 2 | USH2A | NM_206933.2 | heterozygous | c.9286G>A | p.(Val3096Met) | Probably damaging | Damaging | Neutral | Polymorphism | rs147267500 | A=6/ G=121,394 |
| PDE6A | NM_000440.2 | heterozygous | c.1214A>G | p.(Asn405Ser) | Probably damaging | Damaging | Deleterious | Disease causing | rs145107955 | G=20/ A=121,278 |