No paralogue variants have been mapped to residue 2171 for ANK2.
ANK2 | PA---------------LSLQSGALDGSSE>S<LKNEGVAGSPCGSLMEGTPQISSEESYKHE | 2201 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | TVLHYSGNVSSPKHAMWMRFTEDRLDRGRE>K<LIYEDRVDRTVKEAEEKLTEVSQFFRDKTE | 2600 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S2171R | c.6513C>G | Putative Benign | SIFT: Polyphen: |