No paralogue variants have been mapped to residue 574 for KCNH2.
KCNH2 | YGAAV-LFLLMCTFALIAHWLACIWYAIGN>M<EQPHMDSR----IGWLHNLGDQIGKPYNSS | 600 |
KCNH1 | YGAAV-LVLLVCVFGLAAHWMACIWYSIGD>Y<EIFDEDTKTIRNNSWLYQLAMDIGTPYQFN | 433 |
KCNH3 | YSAVV-LTLLMAVFALLAHWVACVWFYIGQ>R<EIESSESELPE-IGWLQELARRLETPYYLV | 413 |
KCNH4 | CSAVV-LTLLMSVFALLAHWMACIWYVIGR>R<EMEANDPLLWD-IGWLHELGKRLEVPYVNG | 415 |
KCNH5 | YGAAV-LVLLVCVFGLVAHWLACIWYSIGD>Y<EVIDEVTNTIQIDSWLYQLALSIGTPYRYN | 403 |
KCNH6 | YGAAV-LFLLMCTFALIAHWLACIWYAIGN>V<ERPYLEHK----IGWLDSLGVQLGKRYNGS | 451 |
KCNH7 | YGAAV-LMLLMCIFALIAHWLACIWYAIGN>V<ERPYLTDK----IGWLDSLGQQIGKRYNDS | 602 |
KCNH8 | HSTIV-LTLLMSMFALLAHWMACIWYVIGK>M<EREDNSLLKWE-VGWLHELGKRLESPYYGN | 409 |
CNGA1 | YPNIFRISNLVMYIVIIIHWNACVFYSISK>A<IGFGND-------TWVYPD---INDP---- | 340 |
CNGA2 | YPNIFRISNLVLYILVIIHWNACIYYAISK>S<IGFGVD-------TWVYPN---ITDP---- | 315 |
CNGA3 | YPNMFRIGNLVLYILIIIHWNACIYFAISK>F<IGFGTD-------SWVYPN---ISIP---- | 343 |
CNGA4 | YPNAFRIAKLMLYIFVVIHWNSCLYFALSR>Y<LGFGRD-------AWVYPD---PAQP---- | 209 |
CNGB1 | KAYVYRVIRTTAYLLYSLHLNSCLYYWASA>Y<QGLGST-------HWVYD------------ | 826 |
CNGB3 | KAYIYRVIRTTGYLLFILHINACVYYWASN>Y<EGIGTT-------RWVYD------------ | 388 |
HCN1 | ASAVVRIFNLIGMMLLLCHWDGCLQFLVPL>L<QDFPPD-------CWVS-----LNEM---- | 336 |
HCN2 | ASAVMRICNLISMMLLLCHWDGCLQFLVPM>L<QDFPRN-------CWVS-----INGM---- | 405 |
HCN3 | ASAVVRIFNLIGMMLLLCHWDGCLQFLVPM>L<QDFPPD-------CWVS-----INHM---- | 289 |
HCN4 | ASAVVRIVNLIGMMLLLCHWDGCLQFLVPM>L<QDFPDD-------CWVS-----INNM---- | 456 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M574V | c.1720A>G | Inherited Arrhythmia | LQTS | rs199473667 | SIFT: tolerated Polyphen: benign |
Reports | Inherited Arrhythmia | LQTS | Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. Circ J. 2008 72(5):694-9. 18441445 | ||
p.M574L | c.1720A>C | Putative Benign | SIFT: Polyphen: |