No paralogue variants have been mapped to residue 248 for ANK2.
ANK2 | ADVQSKMMVNRTTESGFTPLHIAAHYGNVN>V<ATLLLNRGAAVDFTARNGITPLHVASKRGN | 278 |
ANK1 | PDVLSK--------TGFTPLHIAAHYENLN>V<AQLLLNRGASVNFTPQNGITPLHIASRRGN | 251 |
ANK3 | ADVESK--------SGFTPLHIAAHYGNIN>V<ATLLLNRAAAVDFTARNDITPLHVASKRGN | 280 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V248M | c.742G>A | Putative Benign | SIFT: Polyphen: |