No paralogue variants have been mapped to residue 202 for KCNQ1.
| KCNQ1 | VVRLWSAGCRSKYVGLWGRLRFARKPISII>D<LIVVVASMVVLCVG---------------- | 216 |
| KCNQ2 | FVRIWAAGCCCRYRGWRGRLKFARKPFCVI>D<IMVLIASIAVLAAG---------------- | 186 |
| KCNQ3 | ALRIWAAGCCCRYKGWRGRLKFARKPLCML>D<IFVLIASVPVVAVG---------------- | 216 |
| KCNQ4 | IVRVWSAGCCCRYRGWQGRFRFARKPFCVI>D<FIVFVASVAVIAAG---------------- | 192 |
| KCNQ5 | IIRIWSAGCCCRYRGWQGRLRFARKPFCVI>D<TIVLIASIAVVSAK---------------- | 220 |
| KCNA1 | VVR---------FFACPSKTDFFKNIMNFI>D<IVAIIPYFITLGTEIAEQEG-------N-Q | 280 |
| KCNA10 | VLR---------FVVCPSKTDFFRNIMNII>D<IISIIPYFATLITELVQETEP--------- | 329 |
| KCNA2 | LVR---------FFACPSKAGFFTNIMNII>D<IVAIIPYFITLGTELAEKPE-------DAQ | 282 |
| KCNA3 | LVR---------FFACPSKATFSRNIMNLI>D<IVAIIPYFITLGTELAERQ----------G | 352 |
| KCNA4 | VVR---------CFACPSQALFFKNIMNII>D<IVSILPYFITLGTDLAQQQGG------GNG | 432 |
| KCNA5 | LVR---------FFACPSKAGFSRNIMNII>D<VVAIFPYFITLGTELAEQQ---PGGGGGGQ | 388 |
| KCNA6 | LVR---------FSACPSKPAFFRNIMNII>D<LVAIFPYFITLGTELVQQQEQQPASGGGGQ | 330 |
| KCNA7 | LVR---------LLVCPSKAIFFKNVMNLI>D<FVAILPYFVALGTELARQR----------G | 266 |
| KCNB1 | LLR---------FLSSPKKWKFFKGPLNAI>D<LLAILPYYVTIFLTES---N--------KS | 285 |
| KCNB2 | LLR---------FLSSPNKWKFFKGPLNVI>D<LLAILPYYVTIFLTES---N--------KS | 289 |
| KCNC1 | LMR---------VIFCPNKVEFIKNSLNII>D<FVAILPFYLEVGLSG-------------LS | 299 |
| KCNC2 | LVR---------IVFSPNKLEFIKNLLNII>D<FVAILPFYLEVGLSG-------------LS | 336 |
| KCNC3 | LMR---------ITFCPDKVEFLKSSLNII>D<CVAILPFYLEVGLSG-------------LS | 402 |
| KCNC4 | LVR---------IVCCPDTLDFVKNLLNII>D<FVAILPFYLEVGLSG-------------LS | 335 |
| KCND1 | LLR---------LFAAPSRCRFLRSVMSLI>D<VVAILPYYIGLLVP---------------- | 282 |
| KCND2 | LLR---------LAAAPSRYRFVRSVMSII>D<VVAILPYYIGLVMT---------------- | 280 |
| KCND3 | LLR---------LFAAPSRYRFIRSVMSII>D<VVAIMPYYIGLVMT---------------- | 277 |
| KCNF1 | LLR---------LFSSPNKLHFALSFMNIV>D<VLAILPFYVSLTLTHL-----------GAR | 278 |
| KCNG1 | LLR---------LIQAPSKFAFLRSPLTLI>D<LVAILPYYITLLVDGAAAGRR----KPGAG | 331 |
| KCNG2 | LLR---------SLQAESKCAFLRAPLNII>D<ILALLPFYVSLLLGL-----A----AGPGG | 276 |
| KCNG3 | IVR---------FIVSKNKCEFVKRPLNII>D<LLAITPYYISVLMTV-----------FTGE | 277 |
| KCNG4 | CLR---------FVQAQDKCQFFQGPLNII>D<ILAISPYYVSLAVSEEPPEDG----ERPSG | 325 |
| KCNS1 | SSR---------LLLAPSTRNFFCHPLNLI>D<IVSVLPFYLTLLAGVALG-D--------QG | 330 |
| KCNS2 | VAR---------FAVAPDFLKFFKNALNLI>D<LMSIVPFYITLVVNLV---V--------ES | 283 |
| KCNS3 | AVR---------LAAAPCQKKFWKNPLNII>D<FVSIIPFYATLAVDTK---E--------EE | 278 |
| KCNV1 | VLR---------FLCVRDRCRFLRKVPNII>D<LLAILPFYITLLVESLSG-S--------QT | 300 |
| KCNV2 | LLR---------LASTPDLRRFARSALNLV>D<LVAILPLYLQLLLECFTGEGH----QRGQT | 365 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D202H | c.604G>C | Inherited Arrhythmia | LQTS | rs199472702 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland. Ann Med. 2004 36 Suppl 1:53-63. 15176425 | ||
| 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 | |||
| Inherited Arrhythmia | LQTS | Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs. J Gen Physiol. 2010 135(5):433-48. 20421371 | |||
| Inherited Arrhythmia | LQTS | Microscopic mechanisms for long QT syndrome type 1 revealed by single-channel analysis of I(Ks) with S3 domain mutations in KCNQ1. Heart Rhythm. 2015 12(2):386-94. doi: 10.1016/j.hrthm.2014.10.029. 25444851 | |||
| 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 | |||
| p.D202N | c.604G>A | Inherited Arrhythmia | LQTS,JLNS | rs199472702 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | JLNS | Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome. Mol Genet Metab. 2002 75(4):308-16. 12051962 | ||
| Inherited Arrhythmia | LQTS | Clinical and electrophysiological characterization of a novel mutation (F193L) in the KCNQ1 gene associated with long QT syndrome. Clin Sci (Lond). 2003 104(4):377-82. 12653681 | |||
| 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 | JLNS | Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs. J Gen Physiol. 2010 135(5):433-48. 20421371 | |||
| Inherited Arrhythmia | JLNS | Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia. Clin Genet. 2015 87(1):74-9. doi: 10.1111/cge.12330. 24372464 | |||
| Inherited Arrhythmia | JLNS | 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 | |||
| p.Asp202Gly | c.605A>G | Unknown | SIFT: Polyphen: | ||