No paralogue variants have been mapped to residue 1079 for KCNH2.
KCNH2 | VLQ--------------LLQRQMTLVPPAY>S<AVTTP------------------------G | 1085 |
KCNH1 | DLR--------------LDNVGEARSPQDR>S<PILAEVKHSF-------------YPIPEQT | 921 |
KCNH3 | VLQ--------------MREGLQSLRQAVQ>L<VLAPHREGP-------------CPRAS--- | 922 |
KCNH4 | VSQ--------------LSRELRHIMGLLQ>A<RLGPP------------------GHPAGSA | 922 |
KCNH5 | DLR--------------LDKAGEARSPLEH>S<PIQADAKHPF-------------YPIPEQA | 905 |
KCNH6 | CSP--------------KHRNSSPRMP--H>L<AVATD------------------------K | 927 |
KCNH7 | ILQ--------------LLQKQTTVVPPAY>S<MVTAGSEYQR-------------PIIQLMR | 1089 |
KCNH8 | VSQ--------------LGKDMRNVIQLLE>N<VLSPQQPSRFCSLHSTSVCPSRESLQTRTS | 927 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | ------------------------------>-<----------------------------LG | 1206 |
CNGB3 | ------------------------------>-<----------------------------VR | 771 |
HCN1 | LPHEVSTLISRPHPTVG----ESLASIPQP>V<TAVPGTGLQ-----------------AG-- | 830 |
HCN2 | LPHGAPGPAASTRPAS-------------->-<------------------------------ | 842 |
HCN3 | LPQRATGDGSPGRKGS-------------->-<------------------------------ | 734 |
HCN4 | LPQDGAQTLRRASPHSSGESMAAFPLFPRA>G<GGSGGSGS---------------------- | 1131 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1079N | c.3236G>A | Putative Benign | SIFT: Polyphen: |