No paralogue variants have been mapped to residue 756 for KCNH2.
KCNH2 | ADICLHLNRSLLQHCKPFRGATKGCLRALA>M<KFKTTHAPPGDTLVHAGDLLTALYFISRGS | 786 |
KCNH1 | ADICVHLNRKVFKEHPAFRLASDGCLRALA>M<EFQTVHCAPGDLIYHAGESVDSLCFVVSGS | 625 |
KCNH3 | ADIAMHLHKEVL-QLPLFEAASRGCLRALS>L<ALRPAFCTPGEYLIHQGDALQALYFVCSGS | 626 |
KCNH4 | ADIAMHLNREIL-QLPLFGAASRGCLRALS>L<HIKTSFCAPGEYLLRRGDALQAHYYVCSGS | 600 |
KCNH5 | ADICVHLNRKVFNEHPAFRLASDGCLRALA>V<EFQTIHCAPGDLIYHAGESVDALCFVVSGS | 594 |
KCNH6 | ADICLHLHRALLQHCPAFSGAGKGCLRALA>V<KFKTTHAPPGDTLVHLGDVLSTLYFISRGS | 638 |
KCNH7 | ADICLHLNQTLLQNCKAFRGASKGCLRALA>M<KFKTTHAPPGDTLVHCGDVLTALYFLSRGS | 789 |
KCNH8 | SDITMHLNKEIL-QLSLFECASRGCLRSLS>L<HIKTSFCAPGEYLLRQGDALQAIYFVCSGS | 595 |
CNGA1 | AEIAINVHLDTLKKVRIFADCEAGLLVELV>L<KLQPQVYSPGDYICKKGDIGREMYIIKEGK | 523 |
CNGA2 | AEIAINVHLSTLKKVRIFHDCEAGLLVELV>L<KLRPQVFSPGDYICRKGDIGKEMYIIKEGK | 498 |
CNGA3 | AEIAINVHLDTLKKVRIFQDCEAGLLVELV>L<KLRPTVFSPGDYICKKGDIGKEMYIINEGK | 526 |
CNGA4 | AEVAVSVHLSTLSRVQIFQNCEASLLEELV>L<KLQPQTYSPGEYVCRKGDIGQEMYIIREGQ | 392 |
CNGB1 | LDLAIDVNYNIVSKVALFQGCDRQMIFDML>K<RLRSVVYLPNDYVCKKGEIGREMYIIQAGQ | 1006 |
CNGB3 | LALAIDVNFSIISKVDLFKGCDTQMIYDML>L<RLKSVLYLPGDFVCKKGEIGKEMYIIKHGE | 568 |
HCN1 | EEIVNFNCRKLVATMPLFANADPNFVTAML>S<KLRFEVFQPGDYIIREGAVGKKMYFIQHGV | 519 |
HCN2 | EEIVNFNCRKLVASMPLFANADPNFVTAML>T<KLKFEVFQPGDYIIREGTIGKKMYFIQHGV | 588 |
HCN3 | EEIINFTCRGLVAHMPLFAHADPSFVTAVL>T<KLRFEVFQPGDLVVREGSVGRKMYFIQHGL | 472 |
HCN4 | EEIINFNCRKLVASMPLFANADPNFVTSML>T<KLRFEVFQPGDYIIREGTIGKKMYFIQHGV | 639 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M756V | c.2266A>G | Other Cardiac Phenotype | rs199473534 | SIFT: tolerated Polyphen: benign | |
Reports | Other Cardiac Phenotype | Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome. Circ Arrhythm Electrophysiol. 2009 2(5):511-23. 19843919 | |||
Other Cardiac Phenotype | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 |