No paralogue variants have been mapped to residue 7 for KCNH2.
| KCNH2 | ----------------------RR----G->H<VAPQNTFLDTI---IR----KFEGQSRK-- | 28 |
| KCNH1 | ----------------------RR----G->L<VAPQNTFLENI---VR----RS--NDTN-- | 29 |
| KCNH3 | ----------------------MR----G->L<LAPQNTFLDTI---AT----RFDGTHSN-- | 28 |
| KCNH4 | ----------------------MK----G->L<LAPQNTFLDTI---AT----RFDGTHSN-- | 28 |
| KCNH5 | ----------------------KR----G->L<VAPQNTFLENI---VR----RS--SESS-- | 27 |
| KCNH6 | ----------------------RR----G->H<VAPQNTYLDTI---IR----KFEGQSRK-- | 28 |
| KCNH7 | ----------------------RR----G->H<VAPQNTFLGTI---IR----KFEGQNKK-- | 28 |
| KCNH8 | ----------------------MK----G->L<LAPQNTFLDTI---AT----RFDGTHSN-- | 28 |
| CNGA1 | ----------------------SMK---NN>I<INTQQSFVTMPNVIVP----DIEKE----- | 30 |
| CNGA2 | ----------------------K------->-<TNGVK--------SSP----AN-------- | 14 |
| CNGA3 | ------------------------------>-<INTQY--------SHP----SRTH------ | 15 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | PEEAETESESMPPEESFKEEEVAV-----A>D<PSPQETKEAAL---TSTISLRAQGAEISEM | 95 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | ----------------------G------->-<---------------------GKPNS---- | 9 |
| HCN2 | ------------------------------>-<--------RG-----G----GGRPGE---- | 12 |
| HCN3 | ----------------------E------->-<---------------------QRPAA---- | 9 |
| HCN4 | ----------------------LPPSMRKR>L<YSLPQQVGAK-----A----WIMDEE---- | 29 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.H7Y | c.19C>T | Unknown | SIFT: Polyphen: | ||
| Reports | Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | |||