No paralogue variants have been mapped to residue 362 for KCNQ1.
| KCNQ1 | FSVFAISFFALPAGILGSGFALKVQQKQRQ>K<HFNRQIPA--AASLI-QTAWRCY---A-A- | 384 |
| KCNQ2 | FTLIGVSFFALPAGILGSGFALKVQEQHRQ>K<HFEKRRNP--AAGLI-QSAWRFY---A-T- | 349 |
| KCNQ3 | FSLIGVSFFALPAGILGSGLALKVQEQHRQ>K<HFEKRRKP--AAELI-QAAWRYY---A-T- | 388 |
| KCNQ4 | FALLGISFFALPAGILGSGFALKVQEQHRQ>K<HFEKRRMP--AANLI-QAAWRLY---S-T- | 355 |
| KCNQ5 | FALLGISFFALPAGILGSGFALKVQEQHRQ>K<HFEKRRNP--AANLI-QCVWRSY---A-A- | 383 |
| KCNA1 | CAIAGVLTIALPVPVIVSNFNYFYHRETEG>E<EQAQLLH-----VS--SP-NLAS---D-S- | 439 |
| KCNA10 | CAIAGVLTIALPVPVIVSNFNYFYHRETEN>E<EKQNIPGEIERI------------------ | 483 |
| KCNA2 | CAIAGVLTIALPVPVIVSNFNYFYHRETEG>E<EQAQYLQ-----VT--SCPKIPS---S-P- | 442 |
| KCNA3 | CAIAGVLTIALPVPVIVSNFNYFYHRETEG>E<EQSQYMH-----VG--SCQHLSS-S-A-E- | 513 |
| KCNA4 | CAIAGVLTIALPVPVIVSNFNYFYHRETEN>E<EQTQLTQ-----NAV-SCPYLPS-N-LLK- | 595 |
| KCNA5 | CAIAGVLTIALPVPVIVSNFNYFYHRETDH>E<EPAVLKEE--QGTQS-QGPGLDR-G-V-Q- | 553 |
| KCNA6 | CAIAGVLTIALPVPVIVSNFNYFYHRETEQ>E<EQGQYTHV-------------TC-G----- | 483 |
| KCNA7 | CAIAGVLTISLPVPVIVSNFSYFYHRETEG>E<EAGMFSHV-------------DM-Q-P-C- | 421 |
| KCNB1 | CCIAGVLVIALPIPIIVNNFSEFYKEQKRQ>E<KAIKRREA--LERA--KRNG---SIVS-M- | 448 |
| KCNB2 | CCIAGVLVIALPIPIIVNNFSEFYKEQKRQ>E<KAIKRREA--LERA--KRNG---SIVS-M- | 452 |
| KCNC1 | CALAGVLTIAMPVPVIVNNFGMYYSLAMAK>Q<KLPKKKKK--HIPR--PPQLGSP---N-YC | 472 |
| KCNC2 | CALAGVLTIAMPVPVIVNNFGMYYSLAMAK>Q<KLPRKRKK--HIPP--APQASSP---T-FC | 509 |
| KCNC3 | CALAGVLTIAMPVPVIVNNFGMYYSLAMAK>Q<KLPKKKNK--HIPR--PPQPGSP---N-YC | 575 |
| KCNC4 | CALAGVLTIAMPVPVIVNNFGMYYSLAMAK>Q<KLPKKRKK--HVPR--PAQLESP---M-YC | 508 |
| KCND1 | CSLSGVLVIALPVPVIVSNFSRIYHQNQRA>D<KRRAQQKV--RLARIRLAKSGTT---N--- | 444 |
| KCND2 | CSLSGVLVIALPVPVIVSNFSRIYHQNQRA>D<KRRAQKKA--RLARIRAAKSGSA---N--- | 442 |
| KCND3 | CSLSGVLVIALPVPVIVSNFSRIYHQNQRA>D<KRRAQKKA--RLARIRVAKTGSS---N--- | 439 |
| KCNF1 | SFLCGVIAIALPIHPIINNFVRYYNKQRVL>E<TAAKHELE--LMEL--N------SSSG-G- | 438 |
| KCNG1 | SILSGILLMAFPVTSIFHTFSRSYLELKQE>Q<ERVMFRRA--QFLI----K-TKSQLSV--- | 494 |
| KCNG2 | SILSGILLMAFPVTSIFHTFSRSYSELKEQ>Q<QRAASPEP--ALQE----D-STHSATA--- | 439 |
| KCNG3 | CVVSGIVLLALPITFIYHSFVQCYHELKFR>S<ARYSR-----------------SLSTE--- | 433 |
| KCNG4 | SILSGILIMAFPATSIFHTFSHSYLELKKE>Q<EQLQARLR--HLQN----T-GPASECE-LL | 490 |
| KCNS1 | CILGGILVVALPITIIFNKFSHFYRRQKAL>E<AAVRNSNH--QEFE--D------LLSS-I- | 489 |
| KCNS2 | CILAGILVVVLPITLIFNKFSHFYRRQKQL>E<SAMRSCDF--GDGM--K------EVPS-V- | 442 |
| KCNS3 | CIICGILVVALPITIIFNKFSKYYQKQKDI>D<VDQCSEDA--PEKC--H------ELPY-F- | 438 |
| KCNV1 | CILSGILVLALPIAIINDRFSACYFTLKLK>E<AAVRQREA--LKKL--TKNIATDSYIS-V- | 466 |
| KCNV2 | CIAFGIILNGMPISILYNKFSDYYSKLKAY>E<YTTIRRER--GEVN--F------MQRA-R- | 525 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.K362R | c.1085A>G | Inherited Arrhythmia | LQTS,JLNS | rs12720458 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | 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 | 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 | JLNS | Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. Circ Cardiovasc Genet. 2013 6(2):193-200. doi: 10.1161/CIRCGENETICS.112.964684 23392653 | |||
| 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 | |||