No paralogue variants have been mapped to residue 1714 for ANK2.
ANK2 | EGLQASAEKAELKKGSSEESLGEDPGLAPE>P<LPTVKATSPLIEETPIGSIKDKVKALQKRV | 1744 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | SQEILKDVAEMKEDLMRMTAILQTDVPEEK>P<FQPELPKEGRIDDEEPFKIVEKVKEDLVKV | 1958 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1714R | c.5141C>G | Putative Benign | rs200628845 | SIFT: deleterious Polyphen: benign |