No paralogue variants have been mapped to residue 1147 for ANK2.
ANK2 | YFAVVSRIKQDSNLIGPEGGVLSSTVVPQV>Q<AVFPEGALTKRIRVGLQAQPMHSELVKKIL | 1177 |
ANK1 | YFVIMSRLCQDYDTIGPEGGSLKSKLVPLV>Q<ATFPENAVTKRVKLALQAQPVPDELVTKLL | 1122 |
ANK3 | YFAVVSRIKQESNQIGPEGGILSSTTVPLV>Q<ASFPEGALTKRIRVGLQAQPVPDEIVKKIL | 1193 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q1147R | c.3440A>G | Putative Benign | SIFT: Polyphen: |