No paralogue variants have been mapped to residue 2397 for ANK2.
ANK2 | RD---SEVLSAVADDSL------------->A<VS-------HKDSLEASPVLED--NSSHKT | 2418 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | HELSQKLSQSSMSKETVETQHFNSIEDEKV>T<YSEISKVSKHQSYVGLCPPLEETETSPTKS | 3048 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2397V | c.7190C>T | Putative Benign | rs373320489 | SIFT: deleterious Polyphen: probably damaging |