No paralogue variants have been mapped to residue 2172 for ANK2.
ANK2 | A---------------LSLQSGALDGSSES>L<KNEGVAGSPCGSLMEGTPQISSEESYKHEG | 2202 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | VLHYSGNVSSPKHAMWMRFTEDRLDRGREK>L<IYEDRVDRTVKEAEEKLTEVSQFFRDKTEK | 2601 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L2172P | c.6515T>C | Putative Benign | SIFT: Polyphen: |