No paralogue variants have been mapped to residue 1247 for ANK2.
ANK2 | FGGDA-PTLRLLCSITGGTTPAQWEDITGT>T<PLTFVNECVSFTTNVSARFWLIDCRQIQES | 1277 |
ANK1 | GEGDT-TSLRLLCSVIGGTDQAQWEDITGT>T<KLVYANECANFTTNVSARFWLSDCPRTAEA | 1222 |
ANK3 | YKGDTTPNLRLLCSITGGTSPAQWEDITGT>T<PLTFIKDCVSFTTNVSARFWLADCHQVLET | 1294 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T1247M | c.3740C>T | Putative Benign | SIFT: deleterious Polyphen: probably damaging |