No paralogue variants have been mapped to residue 367 for KCNQ1.
| KCNQ1 | ISFFALPAGILGSGFALKVQQKQRQKHFNR>Q<IPA--AASLI-QTAWRCY---A-A-ENPD- | 388 |
| KCNQ2 | VSFFALPAGILGSGFALKVQEQHRQKHFEK>R<RNP--AAGLI-QSAWRFY---A-T-NLSRT | 354 |
| KCNQ3 | VSFFALPAGILGSGLALKVQEQHRQKHFEK>R<RKP--AAELI-QAAWRYY---A-T-NPNRI | 393 |
| KCNQ4 | ISFFALPAGILGSGFALKVQEQHRQKHFEK>R<RMP--AANLI-QAAWRLY---S-T-DMSRA | 360 |
| KCNQ5 | ISFFALPAGILGSGFALKVQEQHRQKHFEK>R<RNP--AANLI-QCVWRSY---A-A-DE-KS | 387 |
| KCNA1 | VLTIALPVPVIVSNFNYFYHRETEGEEQAQ>L<LH-----VS--SP-NLAS---D-S------ | 439 |
| KCNA10 | VLTIALPVPVIVSNFNYFYHRETENEEKQN>I<PGEIERI----------------------- | 483 |
| KCNA2 | VLTIALPVPVIVSNFNYFYHRETEGEEQAQ>Y<LQ-----VT--SCPKIPS---S-P------ | 442 |
| KCNA3 | VLTIALPVPVIVSNFNYFYHRETEGEEQSQ>Y<MH-----VG--SCQHLSS-S-A-E------ | 513 |
| KCNA4 | VLTIALPVPVIVSNFNYFYHRETENEEQTQ>L<TQ-----NAV-SCPYLPS-N-LLK------ | 595 |
| KCNA5 | VLTIALPVPVIVSNFNYFYHRETDHEEPAV>L<KEE--QGTQS-QGPGLDR-G-V-Q-R---- | 554 |
| KCNA6 | VLTIALPVPVIVSNFNYFYHRETEQEEQGQ>Y<THV-------------TC-G---------- | 483 |
| KCNA7 | VLTISLPVPVIVSNFSYFYHRETEGEEAGM>F<SHV-------------DM-Q-P-C------ | 421 |
| KCNB1 | VLVIALPIPIIVNNFSEFYKEQKRQEKAIK>R<REA--LERA--KRNG---SIVS-M-N---- | 449 |
| KCNB2 | VLVIALPIPIIVNNFSEFYKEQKRQEKAIK>R<REA--LERA--KRNG---SIVS-M-N---- | 453 |
| KCNC1 | VLTIAMPVPVIVNNFGMYYSLAMAKQKLPK>K<KKK--HIPR--PPQLGSP---N-YCK---S | 474 |
| KCNC2 | VLTIAMPVPVIVNNFGMYYSLAMAKQKLPR>K<RKK--HIPP--APQASSP---T-FCK---T | 511 |
| KCNC3 | VLTIAMPVPVIVNNFGMYYSLAMAKQKLPK>K<KNK--HIPR--PPQPGSP---N-YCK---P | 577 |
| KCNC4 | VLTIAMPVPVIVNNFGMYYSLAMAKQKLPK>K<RKK--HVPR--PAQLESP---M-YCK---S | 510 |
| KCND1 | VLVIALPVPVIVSNFSRIYHQNQRADKRRA>Q<QKV--RLARIRLAKSGTT---N---A---- | 445 |
| KCND2 | VLVIALPVPVIVSNFSRIYHQNQRADKRRA>Q<KKA--RLARIRAAKSGSA---N---A---- | 443 |
| KCND3 | VLVIALPVPVIVSNFSRIYHQNQRADKRRA>Q<KKA--RLARIRVAKTGSS---N---A---- | 440 |
| KCNF1 | VIAIALPIHPIINNFVRYYNKQRVLETAAK>H<ELE--LMEL--N------SSSG-G-E---- | 439 |
| KCNG1 | ILLMAFPVTSIFHTFSRSYLELKQEQERVM>F<RRA--QFLI----K-TKSQLSV-------- | 494 |
| KCNG2 | ILLMAFPVTSIFHTFSRSYSELKEQQQRAA>S<PEP--ALQE----D-STHSATA-------- | 439 |
| KCNG3 | IVLLALPITFIYHSFVQCYHELKFRSARYS>R<-----------------SLSTE-------- | 433 |
| KCNG4 | ILIMAFPATSIFHTFSHSYLELKKEQEQLQ>A<RLR--HLQN----T-GPASECE-LLD---P | 492 |
| KCNS1 | ILVVALPITIIFNKFSHFYRRQKALEAAVR>N<SNH--QEFE--D------LLSS-I-D---- | 490 |
| KCNS2 | ILVVVLPITLIFNKFSHFYRRQKQLESAMR>S<CDF--GDGM--K------EVPS-V-N---- | 443 |
| KCNS3 | ILVVALPITIIFNKFSKYYQKQKDIDVDQC>S<EDA--PEKC--H------ELPY-F-N---- | 439 |
| KCNV1 | ILVLALPIAIINDRFSACYFTLKLKEAAVR>Q<REA--LKKL--TKNIATDSYIS-V-N---- | 467 |
| KCNV2 | IILNGMPISILYNKFSDYYSKLKAYEYTTI>R<RER--GEVN--F------MQRA-R-K---- | 526 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Q367H | c.1101G>T | Inherited Arrhythmia | LQTS | rs199473663 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Gene symbol: KCNQ1. Hum Genet. 2007 120(6):912. 17438609 | ||
| Inherited Arrhythmia | LQTS | Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome. J Am Coll Cardiol. 2012 60(24):2515-24. doi: 10.1016/j.jacc.2012.08.1009. 23158531 | |||
| Inherited Arrhythmia | LQTS | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159 | |||