No paralogue variants have been mapped to residue 567 for KCNH2.
KCNH2 | -----SEYGAAV-LFLLMCTFALIAHWLAC>I<WYAIGNMEQPHMDSR----IGWLHNLGDQI | 593 |
KCNH1 | -----IEYGAAV-LVLLVCVFGLAAHWMAC>I<WYSIGDYEIFDEDTKTIRNNSWLYQLAMDI | 426 |
KCNH3 | -----SQYSAVV-LTLLMAVFALLAHWVAC>V<WFYIGQREIESSESELPE-IGWLQELARRL | 406 |
KCNH4 | -----SQCSAVV-LTLLMSVFALLAHWMAC>I<WYVIGRREMEANDPLLWD-IGWLHELGKRL | 408 |
KCNH5 | -----LEYGAAV-LVLLVCVFGLVAHWLAC>I<WYSIGDYEVIDEVTNTIQIDSWLYQLALSI | 396 |
KCNH6 | -----SEYGAAV-LFLLMCTFALIAHWLAC>I<WYAIGNVERPYLEHK----IGWLDSLGVQL | 444 |
KCNH7 | -----SEYGAAV-LMLLMCIFALIAHWLAC>I<WYAIGNVERPYLTDK----IGWLDSLGQQI | 595 |
KCNH8 | -----SQHSTIV-LTLLMSMFALLAHWMAC>I<WYVIGKMEREDNSLLKWE-VGWLHELGKRL | 402 |
CNGA1 | -----TNYPNIFRISNLVMYIVIIIHWNAC>V<FYSISKAIGFGND-------TWVYPD---I | 337 |
CNGA2 | -----TNYPNIFRISNLVLYILVIIHWNAC>I<YYAISKSIGFGVD-------TWVYPN---I | 312 |
CNGA3 | -----TNYPNMFRIGNLVLYILIIIHWNAC>I<YFAISKFIGFGTD-------SWVYPN---I | 340 |
CNGA4 | -----TAYPNAFRIAKLMLYIFVVIHWNSC>L<YFALSRYLGFGRD-------AWVYPD---P | 206 |
CNGB1 | -----LSKAYVYRVIRTTAYLLYSLHLNSC>L<YYWASAYQGLGST-------HWVYD----- | 826 |
CNGB3 | -----MDKAYIYRVIRTTGYLLFILHINAC>V<YYWASNYEGIGTT-------RWVYD----- | 388 |
HCN1 | FHMTYDLASAVVRIFNLIGMMLLLCHWDGC>L<QFLVPLLQDFPPD-------CWVS-----L | 333 |
HCN2 | FHMTYDLASAVMRICNLISMMLLLCHWDGC>L<QFLVPMLQDFPRN-------CWVS-----I | 402 |
HCN3 | FHMTYDLASAVVRIFNLIGMMLLLCHWDGC>L<QFLVPMLQDFPPD-------CWVS-----I | 286 |
HCN4 | FHMTYDLASAVVRIVNLIGMMLLLCHWDGC>L<QFLVPMLQDFPDD-------CWVS-----I | 453 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I567T | c.1700T>C | Inherited Arrhythmia | LQTS | rs199473519 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833 |