No paralogue variants have been mapped to residue 349 for KCNQ1.
| KCNQ1 | VPQTWVGKTIASCFSVFAISFFALPAGILG>S<GFALKVQQKQRQKHFNRQIPA--AASLI-Q | 376 |
| KCNQ2 | YPQTWNGRLLAATFTLIGVSFFALPAGILG>S<GFALKVQEQHRQKHFEKRRNP--AAGLI-Q | 341 |
| KCNQ3 | TPKTWEGRLIAATFSLIGVSFFALPAGILG>S<GLALKVQEQHRQKHFEKRRKP--AAELI-Q | 380 |
| KCNQ4 | TPHTWLGRVLAAGFALLGISFFALPAGILG>S<GFALKVQEQHRQKHFEKRRMP--AANLI-Q | 347 |
| KCNQ5 | TPLTWLGRLLSAGFALLGISFFALPAGILG>S<GFALKVQEQHRQKHFEKRRNP--AANLI-Q | 375 |
| KCNA1 | YPVTIGGKIVGSLCAIAGVLTIALPVPVIV>S<NFNYFYHRETEGEEQAQLLH-----VS--S | 432 |
| KCNA10 | CPTTPGGKIVGTLCAIAGVLTIALPVPVIV>S<NFNYFYHRETENEEKQNIPGEIERI----- | 483 |
| KCNA2 | VPTTIGGKIVGSLCAIAGVLTIALPVPVIV>S<NFNYFYHRETEGEEQAQYLQ-----VT--S | 434 |
| KCNA3 | HPVTIGGKIVGSLCAIAGVLTIALPVPVIV>S<NFNYFYHRETEGEEQSQYMH-----VG--S | 504 |
| KCNA4 | KPITVGGKIVGSLCAIAGVLTIALPVPVIV>S<NFNYFYHRETENEEQTQLTQ-----NAV-S | 585 |
| KCNA5 | RPITVGGKIVGSLCAIAGVLTIALPVPVIV>S<NFNYFYHRETDHEEPAVLKEE--QGTQS-Q | 544 |
| KCNA6 | YPMTVGGKIVGSLCAIAGVLTIALPVPVIV>S<NFNYFYHRETEQEEQGQYTHV--------- | 480 |
| KCNA7 | APVTVGGKIVGSLCAIAGVLTISLPVPVIV>S<NFSYFYHRETEGEEAGMFSHV--------- | 416 |
| KCNB1 | YPKTLLGKIVGGLCCIAGVLVIALPIPIIV>N<NFSEFYKEQKRQEKAIKRREA--LERA--K | 440 |
| KCNB2 | YPKTLLGKIVGGLCCIAGVLVIALPIPIIV>N<NFSEFYKEQKRQEKAIKRREA--LERA--K | 444 |
| KCNC1 | YPQTWSGMLVGALCALAGVLTIAMPVPVIV>N<NFGMYYSLAMAKQKLPKKKKK--HIPR--P | 463 |
| KCNC2 | YPQTWSGMLVGALCALAGVLTIAMPVPVIV>N<NFGMYYSLAMAKQKLPRKRKK--HIPP--A | 500 |
| KCNC3 | YPKTWSGMLVGALCALAGVLTIAMPVPVIV>N<NFGMYYSLAMAKQKLPKKKNK--HIPR--P | 566 |
| KCNC4 | YPKTWSGMLVGALCALAGVLTIAMPVPVIV>N<NFGMYYSLAMAKQKLPKKRKK--HVPR--P | 499 |
| KCND1 | VPSTIAGKIFGSICSLSGVLVIALPVPVIV>S<NFSRIYHQNQRADKRRAQQKV--RLARIRL | 437 |
| KCND2 | VPKTIAGKIFGSICSLSGVLVIALPVPVIV>S<NFSRIYHQNQRADKRRAQKKA--RLARIRA | 435 |
| KCND3 | VPKTIAGKIFGSICSLSGVLVIALPVPVIV>S<NFSRIYHQNQRADKRRAQKKA--RLARIRV | 432 |
| KCNF1 | YPKTTLGKLNAAISFLCGVIAIALPIHPII>N<NFVRYYNKQRVLETAAKHELE--LMEL--N | 433 |
| KCNG1 | VPRSTPGQVVALSSILSGILLMAFPVTSIF>H<TFSRSYLELKQEQERVMFRRA--QFLI--- | 486 |
| KCNG2 | VPRSLPGQVVALSSILSGILLMAFPVTSIF>H<TFSRSYSELKEQQQRAASPEP--ALQE--- | 431 |
| KCNG3 | YPITVPGRILGGVCVVSGIVLLALPITFIY>H<SFVQCYHELKFRSARYSR------------ | 428 |
| KCNG4 | VPRSVPGQMVALSSILSGILIMAFPATSIF>H<TFSHSYLELKKEQEQLQARLR--HLQN--- | 480 |
| KCNS1 | VPVTVAGKLAASGCILGGILVVALPITIIF>N<KFSHFYRRQKALEAAVRNSNH--QEFE--D | 484 |
| KCNS2 | VPGTTAGKLTASACILAGILVVVLPITLIF>N<KFSHFYRRQKQLESAMRSCDF--GDGM--K | 437 |
| KCNS3 | HPVTLAGKLIASTCIICGILVVALPITIIF>N<KFSKYYQKQKDIDVDQCSEDA--PEKC--H | 433 |
| KCNV1 | RPDTTTGKIVAFMCILSGILVLALPIAIIN>D<RFSACYFTLKLKEAAVRQREA--LKKL--T | 455 |
| KCNV2 | YPETHLGRFFAFLCIAFGIILNGMPISILY>N<KFSDYYSKLKAYEYTTIRRER--GEVN--F | 520 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S349P | c.1045T>C | Inherited Arrhythmia | LQTS | rs199472764 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | ||
| p.S349W | c.1046C>G | Inherited Arrhythmia | LQTS,JLNS | rs199472765 | 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 | 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 | 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 | Ion channel mechanisms related to sudden cardiac death in phenotype-negative long-QT syndrome genotype-phenotype correlations of the KCNQ1(S349W) mutation. J Cardiovasc Electrophysiol. 2011 22(2):193-200. doi: 10.1111/j.1540-8167.2010.01852 20662986 | |||
| Inherited Arrhythmia | LQTS | Structural models for the KCNQ1 voltage-gated potassium channel. Biochemistry. 2007 46(49):14141-52. 17999538 | |||
| 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 | JLNS | Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden. Europace. 2012 22539601 | |||
| 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 | |||