No paralogue variants have been mapped to residue 2818 for ANK2.
ANK2 | DTEGEELDVSRAESPQADCPSESFSSSSSL>P<HCLVSEGKELDEDISATSSIQKTEVTKTDE | 2848 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | -----------------------GNNDQSI>T<ECSIATTAEFSHDTDATEIDSLDGYDLQDE | 3423 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P2818S | c.8452C>T | Putative Benign | rs137856530 | SIFT: Polyphen: benign | |
p.P2818L | c.8453C>T | Putative Benign | rs368569512 | SIFT: deleterious Polyphen: benign |