No paralogue variants have been mapped to residue 168 for KCNQ1.
| KCNQ1 | ----------ALATGT-LF-WMEIVLVVFF>G<TEYVVRLWSAGCRSKYVGLWGRLRFARKPI | 198 |
| KCNQ2 | ----------KSSEGA-LY-ILEIVTIVVF>G<VEYFVRIWAAGCCCRYRGWRGRLKFARKPF | 168 |
| KCNQ3 | ----------TVSGDW-LL-LLETFAIFIF>G<AEFALRIWAAGCCCRYKGWRGRLKFARKPL | 198 |
| KCNQ4 | ----------ELANEC-LL-ILEFVMIVVF>G<LEYIVRVWSAGCCCRYRGWQGRFRFARKPF | 174 |
| KCNQ5 | ----------KLASSC-LL-ILEFVMIVVF>G<LEFIIRIWSAGCCCRYRGWQGRLRFARKPF | 202 |
| KCNA1 | --NTTVIYNSNIFTDP-FF-IVETLCIIWF>S<FELVVR---------FFACPSKTDFFKNIM | 254 |
| KCNA10 | -NMSKTVLSQTMFTDP-FF-MVESTCIVWF>T<FELVLR---------FVVCPSKTDFFRNIM | 304 |
| KCNA2 | -NSTIGYQQSTSFTDP-FF-IVETLCIIWF>S<FEFLVR---------FFACPSKAGFFTNIM | 255 |
| KCNA3 | -STSGSRAGASSFSDP-FF-VVETLCIIWF>S<FELLVR---------FFACPSKATFSRNIM | 328 |
| KCNA4 | -APHLENSGHTIFNDP-FF-IVETVCIVWF>S<FEFVVR---------CFACPSQALFFKNIM | 404 |
| KCNA5 | -GPTVAPLLPRTLADP-FF-IVETTCVIWF>T<FELLVR---------FFACPSKAGFSRNIM | 357 |
| KCNA6 | GSSSLSTLGGSFFTDP-FF-LVETLCIVWF>T<FELLVR---------FSACPSKPAFFRNIM | 296 |
| KCNA7 | -SQMPGNPPRLPFNDP-FF-VVETLCICWF>S<FELLVR---------LLVCPSKAIFFKNVM | 242 |
| KCNB1 | -----------STDNPQLA-HVEAVCIAWF>T<MEYLLR---------FLSSPKKWKFFKGPL | 262 |
| KCNB2 | -----------LNDNRQLA-HVEAVCIAWF>T<MEYLLR---------FLSSPNKWKFFKGPL | 266 |
| KCNC1 | -NGTQVRYYREAETEA-FLTYIEGVCVVWF>T<FEFLMR---------VIFCPNKVEFIKNSL | 278 |
| KCNC2 | -NGTSVVLQYEIETDP-ALTYVEGVCVVWF>T<FEFLVR---------IVFSPNKLEFIKNLL | 315 |
| KCNC3 | -APPENITNVEVETEP-FLTYVEGVCVVWF>T<FEFLMR---------ITFCPDKVEFLKSSL | 381 |
| KCNC4 | -NITSVHFRREVETEP-ILTYIEGVCVLWF>T<LEFLVR---------IVCCPDTLDFVKNLL | 314 |
| KCND1 | -----EQPCGERFPQA-FF-CMDTACVLIF>T<GEYLLR---------LFAAPSRCRFLRSVM | 264 |
| KCND2 | -----ELPCGERYAVA-FF-CLDTACVMIF>T<VEYLLR---------LAAAPSRYRFVRSVM | 262 |
| KCND3 | -----ELPCGERYSVA-FF-CLDTACVMIF>T<VEYLLR---------LFAAPSRYRFIRSVM | 259 |
| KCNF1 | -----------RVEHPTLE-NVETACIGWF>T<LEYLLR---------LFSSPNKLHFALSFM | 255 |
| KCNG1 | ----------SQMCHN-VF-IVESVCVGWF>S<LEFLLR---------LIQAPSKFAFLRSPL | 301 |
| KCNG2 | ----------SPKCRS-LF-VLETVCVAWF>S<FEFLLR---------SLQAESKCAFLRAPL | 251 |
| KCNG3 | --DDRSRYSAGPGREP-SG-IIEAICIGWF>T<AECIVR---------FIVSKNKCEFVKRPL | 254 |
| KCNG4 | ----------SRKCYY-IF-IVETICVAWF>S<LEFCLR---------FVQAQDKCQFFQGPL | 295 |
| KCNS1 | -AVAAGRSPEGVRDDPVLR-RLEYFCIAWF>S<FEVSSR---------LLLAPSTRNFFCHPL | 305 |
| KCNS2 | -----------PGEDPRFE-IVEHFGIAWF>T<FELVAR---------FAVAPDFLKFFKNAL | 260 |
| KCNS3 | ------------VDDPVLE-GVEIACIAWF>T<GELAVR---------LAAAPCQKKFWKNPL | 255 |
| KCNV1 | -----------WLDLQLLE-ILEYVCISWF>T<GEFVLR---------FLCVRDRCRFLRKVP | 275 |
| KCNV2 | ----------GPDLRPILE-HVEMLCMGFF>T<LEYLLR---------LASTPDLRRFARSAL | 335 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G168R | c.502G>C | Inherited Arrhythmia | LQTS | rs179489 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. Circulation. 1997 96(9):2778-81. 9386136 | ||
| 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 | Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. Genomics. 1998 51(1):86-97. 9693036 | |||
| Inherited Arrhythmia | LQTS | DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. Hum Mutat. 2002 20(5):382-91. 12402336 | |||
| Inherited Arrhythmia | LQTS | A candidate locus approach identifies a long QT syndrome gene mutation. Biol Res Nurs. 2003 5(2):97-104. 14531214 | |||
| Inherited Arrhythmia | LQTS | The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet. 2003 40(2):141-5. 12566525 | |||
| Inherited Arrhythmia | LQTS | [KCNQ 1 (KvLQT1) missense mutation causing congenital long QT syndrome (Jervell-Lange-Nielsen) in a Mexican family]. Arch Cardiol Mex. 2006 76(3):257-62. 17091796 | |||
| 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 | LQTS | Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004 109(15):1834-41. 15051636 | |||
| p.G168R | c.502G>A | Inherited Arrhythmia | LQTS | rs179489 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Mutations at KCNQ1 and an unknown locus cause long QT syndrome in a large Australian family: implications for genetic testing. Am J Med Genet A. 2010 152A(3):613-21. 20186784 | ||
| 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 | DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. Hum Mutat. 2002 20(5):382-91. 12402336 | |||
| 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 | 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 | Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004 109(15):1834-41. 15051636 | |||
| Inherited Arrhythmia | LQTS | Long QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm. 2007 4(10):1306-14. 17905336 | |||
| 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 | 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 | The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet. 2003 40(2):141-5. 12566525 | |||
| 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 | KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. Circulation. 1997 96(9):2778-81. 9386136 | |||
| 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 | |||
| p.G168W | c.502G>T | Putative Benign | rs179489 | SIFT: deleterious Polyphen: probably damaging | |