No paralogue variants have been mapped to residue 565 for KCNH2.
KCNH2 | RY-----SEYGAAV-LFLLMCTFALIAHWL>A<CIWYAIGNMEQPHMDSR----IGWLHNLGD | 591 |
KCNH1 | HY-----IEYGAAV-LVLLVCVFGLAAHWM>A<CIWYSIGDYEIFDEDTKTIRNNSWLYQLAM | 424 |
KCNH3 | RY-----SQYSAVV-LTLLMAVFALLAHWV>A<CVWFYIGQREIESSESELPE-IGWLQELAR | 404 |
KCNH4 | RY-----SQCSAVV-LTLLMSVFALLAHWM>A<CIWYVIGRREMEANDPLLWD-IGWLHELGK | 406 |
KCNH5 | HY-----LEYGAAV-LVLLVCVFGLVAHWL>A<CIWYSIGDYEVIDEVTNTIQIDSWLYQLAL | 394 |
KCNH6 | RY-----SEYGAAV-LFLLMCTFALIAHWL>A<CIWYAIGNVERPYLEHK----IGWLDSLGV | 442 |
KCNH7 | RY-----SEYGAAV-LMLLMCIFALIAHWL>A<CIWYAIGNVERPYLTDK----IGWLDSLGQ | 593 |
KCNH8 | RY-----SQHSTIV-LTLLMSMFALLAHWM>A<CIWYVIGKMEREDNSLLKWE-VGWLHELGK | 400 |
CNGA1 | TR-----TNYPNIFRISNLVMYIVIIIHWN>A<CVFYSISKAIGFGND-------TWVYPD-- | 336 |
CNGA2 | TR-----TNYPNIFRISNLVLYILVIIHWN>A<CIYYAISKSIGFGVD-------TWVYPN-- | 311 |
CNGA3 | TR-----TNYPNMFRIGNLVLYILIIIHWN>A<CIYFAISKFIGFGTD-------SWVYPN-- | 339 |
CNGA4 | TR-----TAYPNAFRIAKLMLYIFVVIHWN>S<CLYFALSRYLGFGRD-------AWVYPD-- | 205 |
CNGB1 | SI-----LSKAYVYRVIRTTAYLLYSLHLN>S<CLYYWASAYQGLGST-------HWVYD--- | 826 |
CNGB3 | SI-----MDKAYIYRVIRTTGYLLFILHIN>A<CVYYWASNYEGIGTT-------RWVYD--- | 388 |
HCN1 | EIFHMTYDLASAVVRIFNLIGMMLLLCHWD>G<CLQFLVPLLQDFPPD-------CWVS---- | 332 |
HCN2 | EIFHMTYDLASAVMRICNLISMMLLLCHWD>G<CLQFLVPMLQDFPRN-------CWVS---- | 401 |
HCN3 | EIFHMTYDLASAVVRIFNLIGMMLLLCHWD>G<CLQFLVPMLQDFPPD-------CWVS---- | 285 |
HCN4 | EIFHMTYDLASAVVRIVNLIGMMLLLCHWD>G<CLQFLVPMLQDFPDD-------CWVS---- | 452 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A565T | c.1693G>A | Inherited Arrhythmia | LQTS | rs199473518 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
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.A565P | c.1693G>C | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | Semiconductor Whole Exome Sequencing for the Identification of Genetic Variants in Colombian Patients Clinically Diagnosed with Long QT Syndrome. Mol Diagn Ther. 2016 20(4):353-62. doi: 10.1007/s40291-016-0207-2. 27251404 | ||
p.A565S | c.1693G>T | Inherited Arrhythmia | LQTS | 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.Ala565Pro | c.1693G>C | Unknown | SIFT: Polyphen: | ||
p.Ala565Val | c.1694C>T | Unknown | SIFT: Polyphen: |