No paralogue variants have been mapped to residue 1055 for KCNH2.
| KCNH2 | L-SSPGRRPRGDV-ESRLDALQRQLNRLET>R<LSADMATVLQ--------------LLQRQM | 1071 |
| KCNH1 | P-E------RTKA-S-----GEATLKKTDS>C<DSGITKSDLR--------------LDNVGE | 896 |
| KCNH3 | S-G----LLTVPH-GPSEARNTDTLDKLRQ>A<VTELSEQVLQ--------------MREGLQ | 900 |
| KCNH4 | T-GTRP-SPELAS-EAEEVK--EKVCRLNQ>E<ISRLNQEVSQ--------------LSRELR | 902 |
| KCNH5 | S-EDPKSSDSENS-V-----TKNPLRKTDS>C<DSGITKSDLR--------------LDKAGE | 880 |
| KCNH6 | I-ASETTSPGPRL-P------QGFLPPAQT>P<SYGDLDDCSP--------------KHRNSS | 915 |
| KCNH7 | ----ESDLTYGEV-EQRLDLLQEQLNRLES>Q<MTTDIQTILQ--------------LLQKQT | 1064 |
| KCNH8 | LGDPEIGAAVLFI-KAEETK--QQINKLNS>E<VTTLTQEVSQ--------------LGKDMR | 889 |
| CNGA1 | ------------------------------>-<------------------------------ | |
| CNGA2 | ------------------------------>-<------------------------------ | |
| CNGA3 | ------------------------------>-<------------------------------ | |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | P-PSSPPPAS-------------------->-<------------------------------ | 1204 |
| CNGB3 | I-AVEEEPHS-------------------->-<------------------------------ | 769 |
| HCN1 | --S--STPKNEVH-KSTQALHNTNLTREVR>P<LSASQPSLPHEVSTLISRPHPTVG----ES | 811 |
| HCN2 | -----PYGGLPAAPLAGPALPARRLSRASR>P<LSASQPSLPHGAPGPAASTRPAS------- | 842 |
| HCN3 | -------P----------GGGGRRLGPRGR>P<LSASQPSLPQRATGDGSPGRKGS------- | 734 |
| HCN4 | S-P--PPPQVPQR-RGTPPLTPGRLTQDLK>L<ISASQPALPQDGAQTLRRASPHSSGESMAA | 1115 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R1055Q | c.3164G>A | Putative Benign | rs41307270 | SIFT: tolerated Polyphen: probably damaging | |
| Reports | Putative Benign | Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore. Br J Clin Pharmacol. 2006 61(3):301-8. 16487223 | |||
| Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | ||||
| p.R1055W | c.3163C>T | Putative Benign | SIFT: deleterious Polyphen: probably damaging | ||