No paralogue variants have been mapped to residue 1108 for KCNH2.
| KCNH2 | -GPGPTSTSPLL-----PVSPLP-TLTLDS>L<SQVSQFMACEELPPGAPELPQ--------- | 1129 |
| KCNH1 | QTLQATVLEVRH-----ELKEDIKALNAKM>T<NIEKQLSEILRILTSRRS------------ | 963 |
| KCNH3 | ----GEGPCPASTSGLLQPLCVDTGASSYC>L<QPPAGSVLSGTWPHPRPGPPPL--MAPWPW | 977 |
| KCNH4 | SAWTPDPPCPQL-----RP-----PCLSPC>A<SRPPPSLQDTTLAEVH-CPASV--GTMETG | 968 |
| KCNH5 | QALQTTLQEVKH-----ELKEDIQLLSCRM>T<ALEKQVAEILKILSEKSVPQ---------- | 949 |
| KCNH6 | -KTLAPSSEQEQ-----PEGLWP-PLASPL>H<PLEVQGLICG-------------------- | 960 |
| KCNH7 | MRTSQPEASIKT-----DRSFSPSSQCPEF>L<DLEKSKLKSKESLSSGVHLNTA--SEDNLT | 1141 |
| KCNH8 | TSWSAHQPCLHL-----QTGGAAYTQAQLC>S<SNITSDIWSVDPSSVGSSPQRT--GAHEQN | 979 |
| CNGA1 | ------------------------------>-<------------------------------ | |
| CNGA2 | ------------------------------>-<------------------------------ | |
| CNGA3 | ------------------------------>-<------------------------------ | |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | LGRPEGEEEGPA-----EPEEHSVRIC--->-<------------------------------ | 1226 |
| CNGB3 | VRR----TVLPR-----GTSRQSLIIS--->-<------------------------------ | 787 |
| HCN1 | ----G---RST--------------VP-QR>V<TLFRQMSSGAIP------PNRGVPPAPP-- | 861 |
| HCN2 | ----S---ST-------------PRLG-P->-<---------------TP-AARAAAPSPD-- | 862 |
| HCN3 | ----G---SE-------------R-LP-PS>G<LL-------AKP------PRTAQPPRPP-- | 758 |
| HCN4 | ----S---GGLG-----PPGRPYGAIPGQH>V<TLPRKTSSGSLPPPLSLFGARATSSGGP-- | 1178 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L1108V | c.3322C>G | Putative Benign | rs199473031 | SIFT: tolerated Polyphen: benign | |
| Reports | Putative Benign | Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore. Br J Clin Pharmacol. 2006 61(3):301-8. 16487223 | |||