No paralogue variants have been mapped to residue 883 for KCNH2.
| KCNH2 | NM-IP-GSP---GSTELE--------GGFS>R<QRKRKLSFRRRTDKDT--EQ-----PGEVS | 906 |
| KCNH1 | IV-FRKISD---VKREEE--------ERMK>R<KNEAPLILPPDHPVRRLFQRF-----RQQK | 748 |
| KCNH3 | GG-SAEVDT-----SSLS------------>G<-------D--NTLMSTLEEKE-----TDGE | 736 |
| KCNH4 | SD-TSGLSR-----FSRS--------PRLS>Q<PRSESLGSSSDKTLPSITEAE-----SGAE | 733 |
| KCNH5 | II-FRKISD---VKKEEE--------ERLR>Q<KNEVTLSIPVDHPVRKLFQKF-----KQQK | 717 |
| KCNH6 | AG-GL-------HSSPRQ--------APGS>Q<DHQGFFLSDNQSGSPH--ELGPQFPSKGYS | 760 |
| KCNH7 | SA-KA-DLLRSQSMNDSE--------GDNC>K<LRRRKLSFESEGEKE-------------NS | 906 |
| KCNH8 | HE-SDVISR-----LSNK--------SMVS>Q<SEPKGNGN-INKRLPSIVEDE-----EEEE | 717 |
| CNGA1 | NI-ANAGSD---PKDLEE--------K--->V<TRME--GSVDLLQTRFARILA-----EYES | 650 |
| CNGA2 | NE-VATS-M---EVDVQE--------K--->L<GQLE--TNMETLYTRFGRLLA-----EYTG | 624 |
| CNGA3 | EL-ARAGAD---PKDLEE--------K--->V<EQLG--SSLDTLQTRFARLLA-----EYNA | 653 |
| CNGA4 | NA-EAAEIA---LQEATE--------SR-->L<RGLD--QQLDDLQTKFARLLA-----ELES | 520 |
| CNGB1 | -----EE-K-----SVLILPPRAGTPKL-->F<NAA--LAMTGKMGGKGAKGGK-----LAHL | 1132 |
| CNGB3 | EATPPRK-D-----LALLFPPKEETPKL-->F<KTL--LGGTGKASL---------------- | 688 |
| HCN1 | IL-LQKFQ------KDLNT-------GVFN>N<-Q---ENEILKQIVKHDREMV-----QAIA | 637 |
| HCN2 | IL-LHKVQ------HDLNS-------GVFN>N<-Q---ENAIIQEIVKYDREMV-----QQAE | 706 |
| HCN3 | IL-QRKRS------EPSPG----------->S<-S---GGIMEQHLVQHDRDMA-----RGVR | 586 |
| HCN4 | IL-LHKVQ------HDLNS-------GVFN>Y<-Q---ENEIIQQIVQHDREMA-----HCAH | 757 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R883W | c.2647C>T | Putative Benign | rs201765446 | SIFT: tolerated Polyphen: probably damaging | |
| p.R883Q | c.2648G>A | Inherited Arrhythmia | SIFT: Polyphen: | ||
| Reports | Inherited Arrhythmia | LQTS | Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661 | ||
| p.R883G | c.2647C>G | Putative Benign | SIFT: Polyphen: | ||