No paralogue variants have been mapped to residue 327 for KCNH2.
KCNH2 | PPPPRHASTGAMHPLRSGLLNSTSDSDLVR>Y<R---TISKIPQITLNFVDLKGDPFLASP-T | 353 |
KCNH1 | -----------------------------K>F<A------------------RLTRALTSS-R | 162 |
KCNH3 | ------------------------------>S<------------------KGFNANRRRS-R | 171 |
KCNH4 | ------------------------------>A<-----------------TWKFRSARRRS-R | 173 |
KCNH5 | -----------------------------K>F<A------------------RLTRALTNS-R | 160 |
KCNH6 | -------------------------TGRGK>Y<R---TISQIPQFTLNFVEFNLEKHRSSS-T | 201 |
KCNH7 | SEDNGRNVKGPFNHIKSSLLGSTSDSNLNK>Y<S---TINKIPQLTLNFSEVKTEKKNSSPPS | 353 |
KCNH8 | ------------------------------>A<-----------------GTHFDSARRRS-R | 168 |
CNGA1 | ------------------------------>-<---------------KKK-KKKEKKSKS-D | 117 |
CNGA2 | ------------------------------>-<---------------FLE-RFRGPELQT-V | 106 |
CNGA3 | ------------------------------>-<---------------FPD-RFRGAELKE-V | 110 |
CNGA4 | ------------------------------>-<------------------------KVKT-T | 10 |
CNGB1 | KDTDGQDRAASTASTNSAIINDRLQELVKL>F<KERTEKV-KEKLIDPDVTSDEE-SPKPSPA | 603 |
CNGB3 | QNK------PPAAPVINEYADAQLHNLVKR>M<RQRTALY-KKKLVEGDLSS-----PEASPQ | 163 |
HCN1 | ------------------------------>-<-------------------EDAEGPR-R-Q | 90 |
HCN2 | ------------------------------>-<-------------------PAGEPRG-S-Q | 159 |
HCN3 | ------------------------------>-<-------------------PE------P-- | 44 |
HCN4 | ------------------------------>-<-------------------PEAEVRL-G-Q | 210 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y327H | c.979T>C | Putative Benign | SIFT: Polyphen: | ||
p.Tyr327Cys | c.980A>G | Unknown | SIFT: Polyphen: |