No paralogue variants have been mapped to residue 345 for KCNQ1.
| KCNQ1 | YGDKVPQTWVGKTIASCFSVFAISFFALPA>G<ILGSGFALKVQQKQRQKHFNRQIPA--AAS | 373 |
| KCNQ2 | YGDKYPQTWNGRLLAATFTLIGVSFFALPA>G<ILGSGFALKVQEQHRQKHFEKRRNP--AAG | 338 |
| KCNQ3 | YGDKTPKTWEGRLIAATFSLIGVSFFALPA>G<ILGSGLALKVQEQHRQKHFEKRRKP--AAE | 377 |
| KCNQ4 | YGDKTPHTWLGRVLAAGFALLGISFFALPA>G<ILGSGFALKVQEQHRQKHFEKRRMP--AAN | 344 |
| KCNQ5 | YGDKTPLTWLGRLLSAGFALLGISFFALPA>G<ILGSGFALKVQEQHRQKHFEKRRNP--AAN | 372 |
| KCNA1 | YGDMYPVTIGGKIVGSLCAIAGVLTIALPV>P<VIVSNFNYFYHRETEGEEQAQLLH-----V | 430 |
| KCNA10 | YGDMCPTTPGGKIVGTLCAIAGVLTIALPV>P<VIVSNFNYFYHRETENEEKQNIPGEIERI- | 483 |
| KCNA2 | YGDMVPTTIGGKIVGSLCAIAGVLTIALPV>P<VIVSNFNYFYHRETEGEEQAQYLQ-----V | 432 |
| KCNA3 | YGDMHPVTIGGKIVGSLCAIAGVLTIALPV>P<VIVSNFNYFYHRETEGEEQSQYMH-----V | 502 |
| KCNA4 | YGDMKPITVGGKIVGSLCAIAGVLTIALPV>P<VIVSNFNYFYHRETENEEQTQLTQ-----N | 582 |
| KCNA5 | YGDMRPITVGGKIVGSLCAIAGVLTIALPV>P<VIVSNFNYFYHRETDHEEPAVLKEE--QGT | 541 |
| KCNA6 | YGDMYPMTVGGKIVGSLCAIAGVLTIALPV>P<VIVSNFNYFYHRETEQEEQGQYTHV----- | 480 |
| KCNA7 | YGDMAPVTVGGKIVGSLCAIAGVLTISLPV>P<VIVSNFSYFYHRETEGEEAGMFSHV----- | 416 |
| KCNB1 | YGDIYPKTLLGKIVGGLCCIAGVLVIALPI>P<IIVNNFSEFYKEQKRQEKAIKRREA--LER | 438 |
| KCNB2 | YGDIYPKTLLGKIVGGLCCIAGVLVIALPI>P<IIVNNFSEFYKEQKRQEKAIKRREA--LER | 442 |
| KCNC1 | YGDMYPQTWSGMLVGALCALAGVLTIAMPV>P<VIVNNFGMYYSLAMAKQKLPKKKKK--HIP | 461 |
| KCNC2 | YGDMYPQTWSGMLVGALCALAGVLTIAMPV>P<VIVNNFGMYYSLAMAKQKLPRKRKK--HIP | 498 |
| KCNC3 | YGDMYPKTWSGMLVGALCALAGVLTIAMPV>P<VIVNNFGMYYSLAMAKQKLPKKKNK--HIP | 564 |
| KCNC4 | YGDMYPKTWSGMLVGALCALAGVLTIAMPV>P<VIVNNFGMYYSLAMAKQKLPKKRKK--HVP | 497 |
| KCND1 | YGDMVPSTIAGKIFGSICSLSGVLVIALPV>P<VIVSNFSRIYHQNQRADKRRAQQKV--RLA | 433 |
| KCND2 | YGDMVPKTIAGKIFGSICSLSGVLVIALPV>P<VIVSNFSRIYHQNQRADKRRAQKKA--RLA | 431 |
| KCND3 | YGDMVPKTIAGKIFGSICSLSGVLVIALPV>P<VIVSNFSRIYHQNQRADKRRAQKKA--RLA | 428 |
| KCNF1 | YGDIYPKTTLGKLNAAISFLCGVIAIALPI>H<PIINNFVRYYNKQRVLETAAKHELE--LME | 431 |
| KCNG1 | YGDMVPRSTPGQVVALSSILSGILLMAFPV>T<SIFHTFSRSYLELKQEQERVMFRRA--QFL | 485 |
| KCNG2 | YGDMVPRSLPGQVVALSSILSGILLMAFPV>T<SIFHTFSRSYSELKEQQQRAASPEP--ALQ | 430 |
| KCNG3 | YGDMYPITVPGRILGGVCVVSGIVLLALPI>T<FIYHSFVQCYHELKFRSARYSR-------- | 428 |
| KCNG4 | YGDMVPRSVPGQMVALSSILSGILIMAFPA>T<SIFHTFSHSYLELKKEQEQLQARLR--HLQ | 479 |
| KCNS1 | YGDVVPVTVAGKLAASGCILGGILVVALPI>T<IIFNKFSHFYRRQKALEAAVRNSNH--QEF | 482 |
| KCNS2 | YGDVVPGTTAGKLTASACILAGILVVVLPI>T<LIFNKFSHFYRRQKQLESAMRSCDF--GDG | 435 |
| KCNS3 | YGDTHPVTLAGKLIASTCIICGILVVALPI>T<IIFNKFSKYYQKQKDIDVDQCSEDA--PEK | 431 |
| KCNV1 | YGDIRPDTTTGKIVAFMCILSGILVLALPI>A<IINDRFSACYFTLKLKEAAVRQREA--LKK | 453 |
| KCNV2 | YGDMYPETHLGRFFAFLCIAFGIILNGMPI>S<ILYNKFSDYYSKLKAYEYTTIRRER--GEV | 518 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G345E | c.1034G>A | Inherited Arrhythmia | LQTS | rs120074183 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet. 1996 12(1):17-23. 8528244 | ||
| Inherited Arrhythmia | LQTS | Functional effects of mutations in KvLQT1 that cause long QT syndrome. J Cardiovasc Electrophysiol. 1999 10(6):817-26. 10376919 | |||
| 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 | |||
| p.G345R | c.1033G>C | Inherited Arrhythmia | LQTS | rs199473471 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene. Hum Genet. 1997 100(3-4):356-61. 9272155 | ||
| Inherited Arrhythmia | LQTS | Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. Hum Mutat. 1999 13(4):301-10. 10220144 | |||
| 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 | |||
| p.G345V | c.1034G>T | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Clinical characteristics of patients with congenital long QT syndrome and bigenic mutations. Chin Med J (Engl). 2014 127(8):1482-6. 24762593 | ||
| p.G345A | c.1034G>C | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction. Cardiology. 2016 133(2):73-8. doi: 10.1159/000440608. 26496715 | ||
| p.Gly345Arg | c.1033G>A | Unknown | SIFT: Polyphen: | ||