No paralogue variants have been mapped to residue 325 for KCNH2.
KCNH2 | VLPPPPRHASTGAMHPLRSGLLNSTSDSDL>V<RYR---TISKIPQITLNFVDLKGDPFLASP | 352 |
KCNH1 | ------------------------------>-<KFA------------------RLTRALTSS | 161 |
KCNH3 | ------------------------------>-<-S------------------KGFNANRRRS | 170 |
KCNH4 | ------------------------------>-<-A-----------------TWKFRSARRRS | 172 |
KCNH5 | ------------------------------>-<KFA------------------RLTRALTNS | 159 |
KCNH6 | ---------------------------TGR>G<KYR---TISQIPQFTLNFVEFNLEKHRSSS | 200 |
KCNH7 | HASEDNGRNVKGPFNHIKSSLLGSTSDSNL>N<KYS---TINKIPQLTLNFSEVKTEKKNSSP | 351 |
KCNH8 | ------------------------------>-<-A-----------------GTHFDSARRRS | 167 |
CNGA1 | ------------------------------>-<-----------------KKK-KKKEKKSKS | 116 |
CNGA2 | ------------------------------>-<-----------------FLE-RFRGPELQT | 105 |
CNGA3 | ------------------------------>-<-----------------FPD-RFRGAELKE | 109 |
CNGA4 | ------------------------------>-<--------------------------KVKT | 9 |
CNGB1 | TPKDTDGQDRAASTASTNSAIINDRLQELV>K<LFKERTEKV-KEKLIDPDVTSDEE-SPKPS | 601 |
CNGB3 | SPQNK------PPAAPVINEYADAQLHNLV>K<RMRQRTALY-KKKLVEGDLSS-----PEAS | 161 |
HCN1 | ------------------------------>-<---------------------EDAEGPR-R | 89 |
HCN2 | ------------------------------>-<---------------------PAGEPRG-S | 158 |
HCN3 | ------------------------------>-<---------------------PE------P | 44 |
HCN4 | ------------------------------>-<---------------------PEAEVRL-G | 209 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V325M | c.973G>A | Putative Benign | rs149381387 | SIFT: tolerated Polyphen: benign |