No paralogue variants have been mapped to residue 117 for ANK2.
ANK2 | GSSVDSATKKGNTALHIASLAGQAEVVKVL>V<KEGANINAQSQNGFTPLYMAAQENHIDVVK | 147 |
ANK1 | EIILETTTKKGNTALHIAALAGQDEVVREL>V<NYGANVNAQSQKGFTPLYMAAQENHLEVVK | 128 |
ANK3 | EANVDAATKKGNTALHIASLAGQAEVVKVL>V<TNGANVNAQSQNGFTPLYMAAQENHLEVVK | 157 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V117L | c.349G>C | Putative Benign | SIFT: Polyphen: |