No paralogue variants have been mapped to residue 1468 for ANK2.
ANK2 | ------------NEVPVL----------AS>P<DLLSEVSEMKQDLIKMTAILTTDVSDKAGS | 1498 |
ANK1 | ------STP--------------------->-<------------------------------ | 1394 |
ANK3 | KSIWSVSTPSPIKSTLGASTTSSVKSISDV>A<SPIRSFRTMSSPIKTVVSQSPYN------- | 1591 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1468L | c.4403C>T | Putative Benign | rs201071074 | SIFT: deleterious Polyphen: probably damaging |