No paralogue variants have been mapped to residue 371 for KCNQ1.
| KCNQ1 | PAGILGSGFALKVQQKQRQKHFNRQIPA-->A<ASLI-QTAWRCY---A-A-ENPD------S | 389 |
| KCNQ2 | PAGILGSGFALKVQEQHRQKHFEKRRNP-->A<AGLI-QSAWRFY---A-T-NLSRTD---LH | 357 |
| KCNQ3 | PAGILGSGLALKVQEQHRQKHFEKRRKP-->A<AELI-QAAWRYY---A-T-NPNRID---LV | 396 |
| KCNQ4 | PAGILGSGFALKVQEQHRQKHFEKRRMP-->A<ANLI-QAAWRLY---S-T-DMSRAY---LT | 363 |
| KCNQ5 | PAGILGSGFALKVQEQHRQKHFEKRRNP-->A<ANLI-QCVWRSY---A-A-DE-KSV---SI | 390 |
| KCNA1 | PVPVIVSNFNYFYHRETEGEEQAQLLH--->-<-VS--SP-NLAS---D-S------------ | 439 |
| KCNA10 | PVPVIVSNFNYFYHRETENEEKQNIPGEIE>R<I----------------------------- | 483 |
| KCNA2 | PVPVIVSNFNYFYHRETEGEEQAQYLQ--->-<-VT--SCPKIPS---S-P------------ | 442 |
| KCNA3 | PVPVIVSNFNYFYHRETEGEEQSQYMH--->-<-VG--SCQHLSS-S-A-E------------ | 513 |
| KCNA4 | PVPVIVSNFNYFYHRETENEEQTQLTQ--->-<-NAV-SCPYLPS-N-LLK------------ | 595 |
| KCNA5 | PVPVIVSNFNYFYHRETDHEEPAVLKEE-->Q<GTQS-QGPGLDR-G-V-Q-R---------- | 554 |
| KCNA6 | PVPVIVSNFNYFYHRETEQEEQGQYTHV-->-<----------TC-G---------------- | 483 |
| KCNA7 | PVPVIVSNFSYFYHRETEGEEAGMFSHV-->-<----------DM-Q-P-C------------ | 421 |
| KCNB1 | PIPIIVNNFSEFYKEQKRQEKAIKRREA-->L<ERA--KRNG---SIVS-M-N---------- | 449 |
| KCNB2 | PIPIIVNNFSEFYKEQKRQEKAIKRREA-->L<ERA--KRNG---SIVS-M-N---------- | 453 |
| KCNC1 | PVPVIVNNFGMYYSLAMAKQKLPKKKKK-->H<IPR--PPQLGSP---N-YCK---S-----V | 475 |
| KCNC2 | PVPVIVNNFGMYYSLAMAKQKLPRKRKK-->H<IPP--APQASSP---T-FCK---T-----E | 512 |
| KCNC3 | PVPVIVNNFGMYYSLAMAKQKLPKKKNK-->H<IPR--PPQPGSP---N-YCK---PDPPPPP | 583 |
| KCNC4 | PVPVIVNNFGMYYSLAMAKQKLPKKRKK-->H<VPR--PAQLESP---M-YCK---S-----E | 511 |
| KCND1 | PVPVIVSNFSRIYHQNQRADKRRAQQKV-->R<LARIRLAKSGTT---N---A---------- | 445 |
| KCND2 | PVPVIVSNFSRIYHQNQRADKRRAQKKA-->R<LARIRAAKSGSA---N---A---------- | 443 |
| KCND3 | PVPVIVSNFSRIYHQNQRADKRRAQKKA-->R<LARIRVAKTGSS---N---A---------- | 440 |
| KCNF1 | PIHPIINNFVRYYNKQRVLETAAKHELE-->L<MEL--N------SSSG-G-E---------- | 439 |
| KCNG1 | PVTSIFHTFSRSYLELKQEQERVMFRRA-->Q<FLI----K-TKSQLSV-------------- | 494 |
| KCNG2 | PVTSIFHTFSRSYSELKEQQQRAASPEP-->A<LQE----D-STHSATA-------------- | 439 |
| KCNG3 | PITFIYHSFVQCYHELKFRSARYSR----->-<-----------SLSTE-------------- | 433 |
| KCNG4 | PATSIFHTFSHSYLELKKEQEQLQARLR-->H<LQN----T-GPASECE-LLD---P------ | 492 |
| KCNS1 | PITIIFNKFSHFYRRQKALEAAVRNSNH-->Q<EFE--D------LLSS-I-D---------- | 490 |
| KCNS2 | PITLIFNKFSHFYRRQKQLESAMRSCDF-->G<DGM--K------EVPS-V-N---------- | 443 |
| KCNS3 | PITIIFNKFSKYYQKQKDIDVDQCSEDA-->P<EKC--H------ELPY-F-N---------- | 439 |
| KCNV1 | PIAIINDRFSACYFTLKLKEAAVRQREA-->L<KKL--TKNIATDSYIS-V-N---------- | 467 |
| KCNV2 | PISILYNKFSDYYSKLKAYEYTTIRRER-->G<EVN--F------MQRA-R-K---------- | 526 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A371T | c.1111G>A | Inherited Arrhythmia | LQTS | rs199473412 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. Circulation. 1997 96(9):2778-81. 9386136 | ||
| 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 | |||
| p.Ala371Pro | c.1111G>C | Unknown | SIFT: Polyphen: | ||