No paralogue variants have been mapped to residue 917 for KCNH2.
| KCNH2 | RTDKDT--EQ-----PGEVSALGPGRAGAG>P<SSRGRPGG---P--WGESPSSGPSS----- | 937 |
| KCNH1 | DHPVRRLFQRF-----RQQKEARL-AAERG>G<RDLDDLDV---E--KGNVLTEHASA----- | 778 |
| KCNH3 | NTLMSTLEEKE-----TDGEQG---P-TVS>P<APADEPSS---P--LLSPGCTSSSSAAKLL | 768 |
| KCNH4 | DKTLPSITEAE-----SGAEPGGGPRPR-R>P<LLLPNLSP---A--RPR--GSLVSLLGEEL | 766 |
| KCNH5 | DHPVRKLFQKF-----KQQKELRNQGSTQG>D<PERNQLQV---E--SRSLQNGASIT----- | 748 |
| KCNH6 | QSGSPH--ELGPQFPSKGYSLLGPGSQNSM>G<------AG---P--CAPG-HPDAAP----- | 784 |
| KCNH7 | EGEKE-------------NSTNDPEDSADT>I<RHYQSSKR---H--FEEKKSRSSSF----- | 937 |
| KCNH8 | NKRLPSIVEDE-----EEEEEGEEEEAVSL>S<PICTRGSS---S--RNKKVGSNKAYLGLSL | 753 |
| CNGA1 | LLQTRFARILA-----EYESMQQKLKQRLT>K<VEKFLKP-----LIDTEFSSIEGPG----- | 681 |
| CNGA2 | TLYTRFGRLLA-----EYTGAQQKLKQRIT>V<LETKMKQ-----NNEDDYLSDGMNS----- | 655 |
| CNGA3 | TLQTRFARLLA-----EYNATQMKMKQRLS>Q<LESQVKG-----GG-DKPLADGEVPG---- | 684 |
| CNGA4 | DLQTKFARLLA-----ELESSALKIAYRIE>R<LEWQTREW---PMPEDLAEADDEGE----- | 553 |
| CNGB1 | KMGGKGAKGGK-----LAHLRARLKELAAL>E<AAAKQQEL---V--EQAKSSQDVKGE---- | 1164 |
| CNGB3 | KASL-----------------ARLLKLKRE>Q<AAQKKENSEGGE--EEGKENEDKQKE---- | 722 |
| HCN1 | KQIVKHDREMV-----QAIAPINYPQMTTL>N<STSSTTTP---T--SRMRTQSPPVYT---- | 669 |
| HCN2 | QEIVKYDREMV-----QQAELGQRVGLFPP>P<PPPPQVTS---A--IATLQQAAAMSF---- | 738 |
| HCN3 | QHLVQHDRDMA-----RGVRGRAPSTGAQL>S<GKPVLWEP---L--VHAPLQAAAVTS---- | 618 |
| HCN4 | QQIVQHDREMA-----HCAHRVQAAASATP>T<PTPVIWTP---L--IQAPLQAAAATT---- | 789 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P917L | c.2750C>T | Conflict | rs76420733 | SIFT: tolerated Polyphen: benign | |
| Reports | Inherited Arrhythmia | LQTS | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849 | ||
| Inherited Arrhythmia | LQTS | Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation. 2002 105(7):794-9. 11854117 | |||
| Benign | Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677 | ||||
| Other Cardiac Phenotype | Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes. Am Heart J. 2006 152(6):1116-22. 17161064 | ||||
| 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 | ||||
| Inherited Arrhythmia | LQTS | An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. Circ Res. 2013 112(5):826-30. doi: 10.1161/CIRCRESAHA.112.300664. 23303164 | |||