No paralogue variants have been mapped to residue 365 for KCNQ1.
| KCNQ1 | FAISFFALPAGILGSGFALKVQQKQRQKHF>N<RQIPA--AASLI-QTAWRCY---A-A-ENP | 387 |
| KCNQ2 | IGVSFFALPAGILGSGFALKVQEQHRQKHF>E<KRRNP--AAGLI-QSAWRFY---A-T-NLS | 352 |
| KCNQ3 | IGVSFFALPAGILGSGLALKVQEQHRQKHF>E<KRRKP--AAELI-QAAWRYY---A-T-NPN | 391 |
| KCNQ4 | LGISFFALPAGILGSGFALKVQEQHRQKHF>E<KRRMP--AANLI-QAAWRLY---S-T-DMS | 358 |
| KCNQ5 | LGISFFALPAGILGSGFALKVQEQHRQKHF>E<KRRNP--AANLI-QCVWRSY---A-A-DE- | 385 |
| KCNA1 | AGVLTIALPVPVIVSNFNYFYHRETEGEEQ>A<QLLH-----VS--SP-NLAS---D-S---- | 439 |
| KCNA10 | AGVLTIALPVPVIVSNFNYFYHRETENEEK>Q<NIPGEIERI--------------------- | 483 |
| KCNA2 | AGVLTIALPVPVIVSNFNYFYHRETEGEEQ>A<QYLQ-----VT--SCPKIPS---S-P---- | 442 |
| KCNA3 | AGVLTIALPVPVIVSNFNYFYHRETEGEEQ>S<QYMH-----VG--SCQHLSS-S-A-E---- | 513 |
| KCNA4 | AGVLTIALPVPVIVSNFNYFYHRETENEEQ>T<QLTQ-----NAV-SCPYLPS-N-LLK---- | 595 |
| KCNA5 | AGVLTIALPVPVIVSNFNYFYHRETDHEEP>A<VLKEE--QGTQS-QGPGLDR-G-V-Q-R-- | 554 |
| KCNA6 | AGVLTIALPVPVIVSNFNYFYHRETEQEEQ>G<QYTHV-------------TC-G-------- | 483 |
| KCNA7 | AGVLTISLPVPVIVSNFSYFYHRETEGEEA>G<MFSHV-------------DM-Q-P-C---- | 421 |
| KCNB1 | AGVLVIALPIPIIVNNFSEFYKEQKRQEKA>I<KRREA--LERA--KRNG---SIVS-M-N-- | 449 |
| KCNB2 | AGVLVIALPIPIIVNNFSEFYKEQKRQEKA>I<KRREA--LERA--KRNG---SIVS-M-N-- | 453 |
| KCNC1 | AGVLTIAMPVPVIVNNFGMYYSLAMAKQKL>P<KKKKK--HIPR--PPQLGSP---N-YCK-- | 473 |
| KCNC2 | AGVLTIAMPVPVIVNNFGMYYSLAMAKQKL>P<RKRKK--HIPP--APQASSP---T-FCK-- | 510 |
| KCNC3 | AGVLTIAMPVPVIVNNFGMYYSLAMAKQKL>P<KKKNK--HIPR--PPQPGSP---N-YCK-- | 576 |
| KCNC4 | AGVLTIAMPVPVIVNNFGMYYSLAMAKQKL>P<KKRKK--HVPR--PAQLESP---M-YCK-- | 509 |
| KCND1 | SGVLVIALPVPVIVSNFSRIYHQNQRADKR>R<AQQKV--RLARIRLAKSGTT---N---A-- | 445 |
| KCND2 | SGVLVIALPVPVIVSNFSRIYHQNQRADKR>R<AQKKA--RLARIRAAKSGSA---N---A-- | 443 |
| KCND3 | SGVLVIALPVPVIVSNFSRIYHQNQRADKR>R<AQKKA--RLARIRVAKTGSS---N---A-- | 440 |
| KCNF1 | CGVIAIALPIHPIINNFVRYYNKQRVLETA>A<KHELE--LMEL--N------SSSG-G-E-- | 439 |
| KCNG1 | SGILLMAFPVTSIFHTFSRSYLELKQEQER>V<MFRRA--QFLI----K-TKSQLSV------ | 494 |
| KCNG2 | SGILLMAFPVTSIFHTFSRSYSELKEQQQR>A<ASPEP--ALQE----D-STHSATA------ | 439 |
| KCNG3 | SGIVLLALPITFIYHSFVQCYHELKFRSAR>Y<SR-----------------SLSTE------ | 433 |
| KCNG4 | SGILIMAFPATSIFHTFSHSYLELKKEQEQ>L<QARLR--HLQN----T-GPASECE-LLD-- | 491 |
| KCNS1 | GGILVVALPITIIFNKFSHFYRRQKALEAA>V<RNSNH--QEFE--D------LLSS-I-D-- | 490 |
| KCNS2 | AGILVVVLPITLIFNKFSHFYRRQKQLESA>M<RSCDF--GDGM--K------EVPS-V-N-- | 443 |
| KCNS3 | CGILVVALPITIIFNKFSKYYQKQKDIDVD>Q<CSEDA--PEKC--H------ELPY-F-N-- | 439 |
| KCNV1 | SGILVLALPIAIINDRFSACYFTLKLKEAA>V<RQREA--LKKL--TKNIATDSYIS-V-N-- | 467 |
| KCNV2 | FGIILNGMPISILYNKFSDYYSKLKAYEYT>T<IRRER--GEVN--F------MQRA-R-K-- | 526 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.N365H | c.1093A>C | Inherited Arrhythmia | LQTS | rs199473409 | SIFT: tolerated 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 | ||
| p.N365K | c.1095C>G | 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 | ||