No paralogue variants have been mapped to residue 1090 for KCNH2.
KCNH2 | P------------------------GPGPT>S<TSPLL-----PVSPLP-TLTLDSLSQVSQF | 1114 |
KCNH1 | EVKHSF-------------YPIPEQTLQAT>V<LEVRH-----ELKEDIKALNAKMTNIEKQL | 951 |
KCNH3 | HREGP-------------CPRAS-----GE>G<PCPASTSGLLQPLCVDTGASSYCLQPPAGS | 955 |
KCNH4 | P------------------GHPAGSAWTPD>P<PCPQL-----RP-----PCLSPCASRPPPS | 947 |
KCNH5 | DAKHPF-------------YPIPEQALQTT>L<QEVKH-----ELKEDIQLLSCRMTALEKQV | 935 |
KCNH6 | D------------------------KTLAP>S<SEQEQ-----PEGLWP-PLASPLHPLEVQG | 956 |
KCNH7 | GSEYQR-------------PIIQLMRTSQP>E<ASIKT-----DRSFSPSSQCPEFLDLEKSK | 1119 |
KCNH8 | QQPSRFCSLHSTSVCPSRESLQTRTSWSAH>Q<PCLHL-----QTGGAAYTQAQLCSSNITSD | 957 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | ------------------------LGRPEG>E<EEGPA-----EPEEHSVRIC---------- | 1226 |
CNGB3 | ------------------------VRR--->-<TVLPR-----GTSRQSLIIS---------- | 787 |
HCN1 | GTGLQ-----------------AG----G->-<-RST--------------VP-QRVTLFRQM | 845 |
HCN2 | ----------------------------S->-<-ST-------------PRLG-P-------- | 850 |
HCN3 | ----------------------------G->-<-SE-------------R-LP-PSGLL---- | 745 |
HCN4 | GSGS------------------------S->-<-GGLG-----PPGRPYGAIPGQHVTLPRKT | 1156 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1090F | c.3269C>T | Putative Benign | SIFT: Polyphen: |