No paralogue variants have been mapped to residue 326 for KCNH2.
KCNH2 | LPPPPRHASTGAMHPLRSGLLNSTSDSDLV>R<YR---TISKIPQITLNFVDLKGDPFLASP- | 352 |
KCNH1 | ------------------------------>K<FA------------------RLTRALTSS- | 161 |
KCNH3 | ------------------------------>-<S------------------KGFNANRRRS- | 170 |
KCNH4 | ------------------------------>-<A-----------------TWKFRSARRRS- | 172 |
KCNH5 | ------------------------------>K<FA------------------RLTRALTNS- | 159 |
KCNH6 | --------------------------TGRG>K<YR---TISQIPQFTLNFVEFNLEKHRSSS- | 200 |
KCNH7 | ASEDNGRNVKGPFNHIKSSLLGSTSDSNLN>K<YS---TINKIPQLTLNFSEVKTEKKNSSPP | 352 |
KCNH8 | ------------------------------>-<A-----------------GTHFDSARRRS- | 167 |
CNGA1 | ------------------------------>-<----------------KKK-KKKEKKSKS- | 116 |
CNGA2 | ------------------------------>-<----------------FLE-RFRGPELQT- | 105 |
CNGA3 | ------------------------------>-<----------------FPD-RFRGAELKE- | 109 |
CNGA4 | ------------------------------>-<-------------------------KVKT- | 9 |
CNGB1 | PKDTDGQDRAASTASTNSAIINDRLQELVK>L<FKERTEKV-KEKLIDPDVTSDEE-SPKPSP | 602 |
CNGB3 | PQNK------PPAAPVINEYADAQLHNLVK>R<MRQRTALY-KKKLVEGDLSS-----PEASP | 162 |
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.R326C | c.976C>T | Putative Benign | SIFT: Polyphen: |