No paralogue variants have been mapped to residue 2347 for ANK2.
ANK2 | TFGSSAHKT-----QTDSEVQESTATSDET>K<ALPLPEASVKTD---------------T-G | 2361 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | FMSVTERERKLLTNGSLSEIKEMTVKSPSK>K<VLYR-EYVVKEGDHPGGLLDQPSRRSESSA | 2956 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K2347E | c.7039A>G | Putative Benign | SIFT: Polyphen: |