No paralogue variants have been mapped to residue 366 for KCNQ1.
| KCNQ1 | AISFFALPAGILGSGFALKVQQKQRQKHFN>R<QIPA--AASLI-QTAWRCY---A-A-ENPD | 388 |
| KCNQ2 | GVSFFALPAGILGSGFALKVQEQHRQKHFE>K<RRNP--AAGLI-QSAWRFY---A-T-NLSR | 353 |
| KCNQ3 | GVSFFALPAGILGSGLALKVQEQHRQKHFE>K<RRKP--AAELI-QAAWRYY---A-T-NPNR | 392 |
| KCNQ4 | GISFFALPAGILGSGFALKVQEQHRQKHFE>K<RRMP--AANLI-QAAWRLY---S-T-DMSR | 359 |
| KCNQ5 | GISFFALPAGILGSGFALKVQEQHRQKHFE>K<RRNP--AANLI-QCVWRSY---A-A-DE-K | 386 |
| KCNA1 | GVLTIALPVPVIVSNFNYFYHRETEGEEQA>Q<LLH-----VS--SP-NLAS---D-S----- | 439 |
| KCNA10 | GVLTIALPVPVIVSNFNYFYHRETENEEKQ>N<IPGEIERI---------------------- | 483 |
| KCNA2 | GVLTIALPVPVIVSNFNYFYHRETEGEEQA>Q<YLQ-----VT--SCPKIPS---S-P----- | 442 |
| KCNA3 | GVLTIALPVPVIVSNFNYFYHRETEGEEQS>Q<YMH-----VG--SCQHLSS-S-A-E----- | 513 |
| KCNA4 | GVLTIALPVPVIVSNFNYFYHRETENEEQT>Q<LTQ-----NAV-SCPYLPS-N-LLK----- | 595 |
| KCNA5 | GVLTIALPVPVIVSNFNYFYHRETDHEEPA>V<LKEE--QGTQS-QGPGLDR-G-V-Q-R--- | 554 |
| KCNA6 | GVLTIALPVPVIVSNFNYFYHRETEQEEQG>Q<YTHV-------------TC-G--------- | 483 |
| KCNA7 | GVLTISLPVPVIVSNFSYFYHRETEGEEAG>M<FSHV-------------DM-Q-P-C----- | 421 |
| KCNB1 | GVLVIALPIPIIVNNFSEFYKEQKRQEKAI>K<RREA--LERA--KRNG---SIVS-M-N--- | 449 |
| KCNB2 | GVLVIALPIPIIVNNFSEFYKEQKRQEKAI>K<RREA--LERA--KRNG---SIVS-M-N--- | 453 |
| KCNC1 | GVLTIAMPVPVIVNNFGMYYSLAMAKQKLP>K<KKKK--HIPR--PPQLGSP---N-YCK--- | 473 |
| KCNC2 | GVLTIAMPVPVIVNNFGMYYSLAMAKQKLP>R<KRKK--HIPP--APQASSP---T-FCK--- | 510 |
| KCNC3 | GVLTIAMPVPVIVNNFGMYYSLAMAKQKLP>K<KKNK--HIPR--PPQPGSP---N-YCK--- | 576 |
| KCNC4 | GVLTIAMPVPVIVNNFGMYYSLAMAKQKLP>K<KRKK--HVPR--PAQLESP---M-YCK--- | 509 |
| KCND1 | GVLVIALPVPVIVSNFSRIYHQNQRADKRR>A<QQKV--RLARIRLAKSGTT---N---A--- | 445 |
| KCND2 | GVLVIALPVPVIVSNFSRIYHQNQRADKRR>A<QKKA--RLARIRAAKSGSA---N---A--- | 443 |
| KCND3 | GVLVIALPVPVIVSNFSRIYHQNQRADKRR>A<QKKA--RLARIRVAKTGSS---N---A--- | 440 |
| KCNF1 | GVIAIALPIHPIINNFVRYYNKQRVLETAA>K<HELE--LMEL--N------SSSG-G-E--- | 439 |
| KCNG1 | GILLMAFPVTSIFHTFSRSYLELKQEQERV>M<FRRA--QFLI----K-TKSQLSV------- | 494 |
| KCNG2 | GILLMAFPVTSIFHTFSRSYSELKEQQQRA>A<SPEP--ALQE----D-STHSATA------- | 439 |
| KCNG3 | GIVLLALPITFIYHSFVQCYHELKFRSARY>S<R-----------------SLSTE------- | 433 |
| KCNG4 | GILIMAFPATSIFHTFSHSYLELKKEQEQL>Q<ARLR--HLQN----T-GPASECE-LLD--- | 491 |
| KCNS1 | GILVVALPITIIFNKFSHFYRRQKALEAAV>R<NSNH--QEFE--D------LLSS-I-D--- | 490 |
| KCNS2 | GILVVVLPITLIFNKFSHFYRRQKQLESAM>R<SCDF--GDGM--K------EVPS-V-N--- | 443 |
| KCNS3 | GILVVALPITIIFNKFSKYYQKQKDIDVDQ>C<SEDA--PEKC--H------ELPY-F-N--- | 439 |
| KCNV1 | GILVLALPIAIINDRFSACYFTLKLKEAAV>R<QREA--LKKL--TKNIATDSYIS-V-N--- | 467 |
| KCNV2 | GIILNGMPISILYNKFSDYYSKLKAYEYTT>I<RRER--GEVN--F------MQRA-R-K--- | 526 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R366P | c.1097G>C | Inherited Arrhythmia | LQTS | rs199473410 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. Circulation. 1997 95(3):565-7. 9024139 | ||
| 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.R366Q | c.1097G>A | Inherited Arrhythmia | LQTS | rs199473410 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849 | ||
| Inherited Arrhythmia | LQTS | Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. J Cardiovasc Electrophysiol. 2003 14(11):1149-53. 14678125 | |||
| 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 | PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions. Channels (Austin). 2010 4(1):3-11. 19934648 | |||
| Inherited Arrhythmia | LQTS | Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1). Cardiovasc Res. 2005 67(3):476-86. 15935335 | |||
| Other Disease Phenotype | Comprehensive genetic testing can save lives in hereditary hearing loss. Clin Genet. 2015 87(2):190-1. doi: 10.1111/cge.12376. 24689698 | ||||
| Inherited Arrhythmia | LQTS | Follow up of a family with asymptomatic compound long QT syndrome mutations. Genet Couns. 2014 25(4):399-403. 25804018 | |||
| p.R366W | c.1096C>T | Inherited Arrhythmia | LQTS | rs199473411 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. Genomics. 1998 51(1):86-97. 9693036 | ||
| Inherited Arrhythmia | LQTS | High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants. Hum Mutat. 1999 13(4):318-27. 10220146 | |||
| Inherited Arrhythmia | LQTS | Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis. Hum Mutat. 2001 18(5):451-7. 11668638 | |||
| Inherited Arrhythmia | LQTS | Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. J Cardiovasc Electrophysiol. 2003 14(11):1149-53. 14678125 | |||
| Inherited Arrhythmia | LQTS | Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. Circulation. 2004 110(15):2119-24. 15466642 | |||
| Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | |||
| Inherited Arrhythmia | LQTS | Classification of the long-QT syndrome based on discriminant analysis of T-wave morphology. Med Biol Eng Comput. 2006 44(7):543-9. 16937190 | |||
| 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 | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Inherited Arrhythmia | LQTS | A single strand conformation polymorphism/heteroduplex (SSCP/HD) method for detection of mutations in 15 exons of the KVLQT1 gene, associated with long QT syndrome. Clin Chim Acta. 1999 280(1-2):113-25. 10090529 | |||
| Inherited Arrhythmia | LQTS | Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429 | |||
| Inherited Arrhythmia | LQTS | KCNQ1 long QT syndrome patients have hyperinsulinemia and symptomatic hypoglycemia. Diabetes. 2014 63(4):1315-25. doi: 10.2337/db13-1454. 24357532 | |||
| 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 | |||
| 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 | |||