No paralogue variants have been mapped to residue 3252 for ANK2.
ANK2 | QLDFSTLTRSVYSDRGDDSPDSSPEEQKSV>I<EIPTAPMENVPFTESKSKIPVRTMPTSTPA | 3282 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | HEK-HDFQKDNFNNN--NNLDSSTIQTDNI>-<------MSNIVLTEH--SAPTCTTEKDNPV | 3824 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I3252T | c.9755T>C | Benign | rs36210417 | SIFT: deleterious Polyphen: probably damaging | |
p.I3252L | c.9754A>C | Putative Benign | rs144603824 | SIFT: Polyphen: probably damaging |