No paralogue variants have been mapped to residue 861 for KCNH2.
| KCNH2 | HRDDLLEVLDMYPEFSDHFWSSL--EIT-F>N<LRDTNM-IP-GSP---GSTELE-------- | 878 |
| KCNH1 | KRDALQKVLEFYTAFSHSFSRNL--ILT-Y>N<LRKRIV-FRKISD---VKREEE-------- | 718 |
| KCNH3 | QLAGLHDSLALYPEFAPRFSRGLRGELS-Y>N<LGAGGG-SAEVDT-----SSLS-------- | 719 |
| KCNH4 | SSRGLAEVLRLYPEYGAAFRAGLPRDLT-F>N<LRQGSD-TSGLSR-----FSRS-------- | 703 |
| KCNH5 | KREALLKVLDFYTAFANSFSRNL--TLT-C>N<LRKRII-FRKISD---VKKEEE-------- | 687 |
| KCNH6 | QRADLLEVLDMYPAFAESFWSKL--EVT-F>N<LRDAAG-GL-------HSSPRQ-------- | 727 |
| KCNH7 | QREDLLEVLDMYPEFSDHFLTNL--ELT-F>N<LRHESA-KA-DLLRSQSMNDSE-------- | 884 |
| KCNH8 | ILKGLFEVLDLYPEYAHKFVEDIQHDLT-Y>N<LREGHE-SDVISR-----LSNK-------- | 688 |
| CNGA1 | SKDDLMEALTEYPDAKTMLEEKGKQILMKD>G<LLDLNI-ANAGSD---PKDLEE-------- | 625 |
| CNGA2 | SKDDLMEAVTEYPDAKKVLEERGREILMKE>G<LLDENE-VATS-M---EVDVQE-------- | 599 |
| CNGA3 | SKDDLMEALTEYPEAKKALEEKGRQILMKD>N<LIDEEL-ARAGAD---PKDLEE-------- | 628 |
| CNGA4 | SKEDLREVLSEYPQAQTIMEEKGREILLKM>N<KLDVNA-EAAEIA---LQEATE-------- | 494 |
| CNGB1 | DKKDLNEILVHYPESQKLLRKKARRMLRSN>N<KPK------EE-K-----SVLILPPRAGTP | 1106 |
| CNGB3 | DKKTLQEILVHYPDSERILMKKARVLLKQK>A<KTA-EATPPRK-D-----LALLFPPKEETP | 673 |
| HCN1 | SVDNFNEVLEEYPMMRRAFETVAIDRLDRI>G<KKNSIL-LQKFQ------KDLNT------- | 611 |
| HCN2 | SVDNFNEVLEEYPMMRRAFETVAIDRLDRI>G<KKNSIL-LHKVQ------HDLNS------- | 680 |
| HCN3 | SVDHFNAVLEEFPMMRRAFETVAMDRLLRI>G<KKNSIL-QRKRS------EPSPG------- | 564 |
| HCN4 | SVDNFNEVLEEYPMMRRAFETVALDRLDRI>G<KKNSIL-LHKVQ------HDLNS------- | 731 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.N861H | c.2581A>C | Inherited Arrhythmia | LQTS | rs199473007 | SIFT: deleterious Polyphen: probably damaging |
| 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 | ||
| Inherited Arrhythmia | LQTS | Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810 | |||
| p.N861I | c.2582A>T | Inherited Arrhythmia | LQTS | rs121912513 | SIFT: deleterious Polyphen: possibly damaging |
| 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 | |||
| Inherited Arrhythmia | LQTS | Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004 109(15):1834-41. 15051636 | |||
| Inherited Arrhythmia | LQTS | Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810 | |||
| p.N861T | c.2582A>C | Inherited Arrhythmia | LQTS | rs121912513 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004 109(15):1834-41. 15051636 | ||
| p.Asn861Ser | c.2582A>G | Unknown | SIFT: Polyphen: | ||