No paralogue variants have been mapped to residue 373 for KCNQ1.
| KCNQ1 | GILGSGFALKVQQKQRQKHFNRQIPA--AA>S<LI-QTAWRCY---A-A-ENPD------S-- | 389 |
| KCNQ2 | GILGSGFALKVQEQHRQKHFEKRRNP--AA>G<LI-QSAWRFY---A-T-NLSRTD---LH-- | 357 |
| KCNQ3 | GILGSGLALKVQEQHRQKHFEKRRKP--AA>E<LI-QAAWRYY---A-T-NPNRID---LV-- | 396 |
| KCNQ4 | GILGSGFALKVQEQHRQKHFEKRRMP--AA>N<LI-QAAWRLY---S-T-DMSRAY---LT-- | 363 |
| KCNQ5 | GILGSGFALKVQEQHRQKHFEKRRNP--AA>N<LI-QCVWRSY---A-A-DE-KSV---SI-- | 390 |
| KCNA1 | PVIVSNFNYFYHRETEGEEQAQLLH----->V<S--SP-NLAS---D-S-------------- | 439 |
| KCNA10 | PVIVSNFNYFYHRETENEEKQNIPGEIERI>-<------------------------------ | 483 |
| KCNA2 | PVIVSNFNYFYHRETEGEEQAQYLQ----->V<T--SCPKIPS---S-P-------------- | 442 |
| KCNA3 | PVIVSNFNYFYHRETEGEEQSQYMH----->V<G--SCQHLSS-S-A-E-------------- | 513 |
| KCNA4 | PVIVSNFNYFYHRETENEEQTQLTQ----->N<AV-SCPYLPS-N-LLK-------------- | 595 |
| KCNA5 | PVIVSNFNYFYHRETDHEEPAVLKEE--QG>T<QS-QGPGLDR-G-V-Q-R------------ | 554 |
| KCNA6 | PVIVSNFNYFYHRETEQEEQGQYTHV---->-<--------TC-G------------------ | 483 |
| KCNA7 | PVIVSNFSYFYHRETEGEEAGMFSHV---->-<--------DM-Q-P-C-------------- | 421 |
| KCNB1 | PIIVNNFSEFYKEQKRQEKAIKRREA--LE>R<A--KRNG---SIVS-M-N------------ | 449 |
| KCNB2 | PIIVNNFSEFYKEQKRQEKAIKRREA--LE>R<A--KRNG---SIVS-M-N------------ | 453 |
| KCNC1 | PVIVNNFGMYYSLAMAKQKLPKKKKK--HI>P<R--PPQLGSP---N-YCK---S-----V-- | 475 |
| KCNC2 | PVIVNNFGMYYSLAMAKQKLPRKRKK--HI>P<P--APQASSP---T-FCK---T-----E-- | 512 |
| KCNC3 | PVIVNNFGMYYSLAMAKQKLPKKKNK--HI>P<R--PPQPGSP---N-YCK---PDPPPPPPP | 585 |
| KCNC4 | PVIVNNFGMYYSLAMAKQKLPKKRKK--HV>P<R--PAQLESP---M-YCK---S-----E-- | 511 |
| KCND1 | PVIVSNFSRIYHQNQRADKRRAQQKV--RL>A<RIRLAKSGTT---N---A------------ | 445 |
| KCND2 | PVIVSNFSRIYHQNQRADKRRAQKKA--RL>A<RIRAAKSGSA---N---A------------ | 443 |
| KCND3 | PVIVSNFSRIYHQNQRADKRRAQKKA--RL>A<RIRVAKTGSS---N---A------------ | 440 |
| KCNF1 | HPIINNFVRYYNKQRVLETAAKHELE--LM>E<L--N------SSSG-G-E------------ | 439 |
| KCNG1 | TSIFHTFSRSYLELKQEQERVMFRRA--QF>L<I----K-TKSQLSV---------------- | 494 |
| KCNG2 | TSIFHTFSRSYSELKEQQQRAASPEP--AL>Q<E----D-STHSATA---------------- | 439 |
| KCNG3 | TFIYHSFVQCYHELKFRSARYSR------->-<---------SLSTE---------------- | 433 |
| KCNG4 | TSIFHTFSHSYLELKKEQEQLQARLR--HL>Q<N----T-GPASECE-LLD---P-------- | 492 |
| KCNS1 | TIIFNKFSHFYRRQKALEAAVRNSNH--QE>F<E--D------LLSS-I-D------------ | 490 |
| KCNS2 | TLIFNKFSHFYRRQKQLESAMRSCDF--GD>G<M--K------EVPS-V-N------------ | 443 |
| KCNS3 | TIIFNKFSKYYQKQKDIDVDQCSEDA--PE>K<C--H------ELPY-F-N------------ | 439 |
| KCNV1 | AIINDRFSACYFTLKLKEAAVRQREA--LK>K<L--TKNIATDSYIS-V-N------------ | 467 |
| KCNV2 | SILYNKFSDYYSKLKAYEYTTIRRER--GE>V<N--F------MQRA-R-K------------ | 526 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S373P | c.1117T>C | Inherited Arrhythmia | LQTS | rs199472766 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. Hum Mutat. 1999 13(4):301-10. 10220144 | ||
| Inherited Arrhythmia | LQTS | The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet. 2003 40(2):141-5. 12566525 | |||
| Inherited Arrhythmia | LQTS | Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation. 2007 115(19):2481-9. 17470695 | |||
| Inherited Arrhythmia | LQTS | Calmodulin is essential for cardiac IKS channel gating and assembly: impaired function in long-QT mutations. Circ Res. 2006 98(8):1055-63. 16556865 | |||