No paralogue variants have been mapped to residue 968 for KCNH2.
| KCNH2 | EDEGP---GRSSSPLRLVPFSSP-RPPGEP>P<GGEPLMEDC--------------------- | 977 |
| KCNH1 | VKASV---VTVRESPATPVSFQA-ASTSGV>P<DHAKLQAPGS-------------------- | 819 |
| KCNH3 | PRPRL---GGRGRPGRAGALKAE-AGPSAP>P<RALEG------------------------- | 806 |
| KCNH4 | VSSPS---LSPSLSPALAGQGHS-ASPHGP>P<RCSAAWKPPQ-------------------- | 809 |
| KCNH5 | VTVSQ---ITPIQTSLAYVKTSE-SLKQNN>R<DAMELKPNGG-------------------- | 789 |
| KCNH6 | SDASG---LWPELLQEMPPRHSP-QSPQED>P<DCWPLKLGSR-------------------- | 825 |
| KCNH7 | DDEQK---PLFSGIVDSSPGIGK-ASGLDF>E<ETVPTSGRMH-------------------- | 978 |
| KCNH8 | T-VPF---HSPIRVSRSNSPKTK-QEIDPP>N<HNKRKEKNLK-------------------- | 795 |
| CNGA1 | SGPID---S--------------------->-<------------------------------ | 689 |
| CNGA2 | LAAAD---E--------------------->-<------------------------------ | 663 |
| CNGA3 | KTEDK---Q--------------------->-<------------------------------ | 693 |
| CNGA4 | EGTSK---DE-------------------->-<------------------------------ | 562 |
| CNGB1 | AAPDQ-----------HTHPKEA------->-<------------------------------ | 1179 |
| CNGB3 | KQKEN-----------EDKGKE-------->-<------------------------------ | 736 |
| HCN1 | LSHSNL-H--------S------------->-<------------------------------ | 680 |
| HCN2 | VARPLVGP---------------------->-<------------------------------ | 749 |
| HCN3 | IALTHQRG--------P------------->-<------------------------------ | 630 |
| HCN4 | IALTHHPRLPAAIFRPPPGSGLGNLGAGQT>P<RHLKRLQSLIPSALGSASPASSPSQVDTPS | 853 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P968L | c.2903C>T | Inherited Arrhythmia | LQTS | rs199473017 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | ||
| Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||
| Putative Benign | Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429 | ||||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
| p.P968A | c.2902C>G | Putative Benign | SIFT: Polyphen: | ||