No paralogue variants have been mapped to residue 207 for KCNQ1.
KCNQ1 | SAGCRSKYVGLWGRLRFARKPISIIDLIVV>V<ASMVVLCVG----------------SKGQV | 221 |
KCNQ2 | AAGCCCRYRGWRGRLKFARKPFCVIDIMVL>I<ASIAVLAAG----------------SQGNV | 191 |
KCNQ3 | AAGCCCRYKGWRGRLKFARKPLCMLDIFVL>I<ASVPVVAVG----------------NQGNV | 221 |
KCNQ4 | SAGCCCRYRGWQGRFRFARKPFCVIDFIVF>V<ASVAVIAAG----------------TQGNI | 197 |
KCNQ5 | SAGCCCRYRGWQGRLRFARKPFCVIDTIVL>I<ASIAVVSAK----------------TQGNI | 225 |
KCNA1 | -------FFACPSKTDFFKNIMNFIDIVAI>I<PYFITLGTEIAEQEG-------N-QKGEQA | 285 |
KCNA10 | -------FVVCPSKTDFFRNIMNIIDIISI>I<PYFATLITELVQETEP---------SAQQN | 334 |
KCNA2 | -------FFACPSKAGFFTNIMNIIDIVAI>I<PYFITLGTELAEKPE-------DAQQGQQA | 287 |
KCNA3 | -------FFACPSKATFSRNIMNLIDIVAI>I<PYFITLGTELAERQ----------GNGQQA | 357 |
KCNA4 | -------CFACPSQALFFKNIMNIIDIVSI>L<PYFITLGTDLAQQQGG------GNGQQQQA | 437 |
KCNA5 | -------FFACPSKAGFSRNIMNIIDVVAI>F<PYFITLGTELAEQQ---PGGGGGGQNGQQA | 393 |
KCNA6 | -------FSACPSKPAFFRNIMNIIDLVAI>F<PYFITLGTELVQQQEQQPASGGGGQNGQQA | 335 |
KCNA7 | -------LLVCPSKAIFFKNVMNLIDFVAI>L<PYFVALGTELARQR----------GVGQQA | 271 |
KCNB1 | -------FLSSPKKWKFFKGPLNAIDLLAI>L<PYYVTIFLTES---N--------KSVLQFQ | 290 |
KCNB2 | -------FLSSPNKWKFFKGPLNVIDLLAI>L<PYYVTIFLTES---N--------KSVLQFQ | 294 |
KCNC1 | -------VIFCPNKVEFIKNSLNIIDFVAI>L<PFYLEVGLSG-------------LSSKAAK | 304 |
KCNC2 | -------IVFSPNKLEFIKNLLNIIDFVAI>L<PFYLEVGLSG-------------LSSKAAK | 341 |
KCNC3 | -------ITFCPDKVEFLKSSLNIIDCVAI>L<PFYLEVGLSG-------------LSSKAAK | 407 |
KCNC4 | -------IVCCPDTLDFVKNLLNIIDFVAI>L<PFYLEVGLSG-------------LSSKAAR | 340 |
KCND1 | -------LFAAPSRCRFLRSVMSLIDVVAI>L<PYYIGLLVP------------------KND | 285 |
KCND2 | -------LAAAPSRYRFVRSVMSIIDVVAI>L<PYYIGLVMT------------------DNE | 283 |
KCND3 | -------LFAAPSRYRFIRSVMSIIDVVAI>M<PYYIGLVMT------------------NNE | 280 |
KCNF1 | -------LFSSPNKLHFALSFMNIVDVLAI>L<PFYVSLTLTHL-----------GARMMELT | 283 |
KCNG1 | -------LIQAPSKFAFLRSPLTLIDLVAI>L<PYYITLLVDGAAAGRR----KPGAGNSYLD | 336 |
KCNG2 | -------SLQAESKCAFLRAPLNIIDILAL>L<PFYVSLLLGL-----A----AGPGGTKLLE | 281 |
KCNG3 | -------FIVSKNKCEFVKRPLNIIDLLAI>T<PYYISVLMTV-----------FTGENSQLQ | 282 |
KCNG4 | -------FVQAQDKCQFFQGPLNIIDILAI>S<PYYVSLAVSEEPPEDG----ERPSGSSYLE | 330 |
KCNS1 | -------LLLAPSTRNFFCHPLNLIDIVSV>L<PFYLTLLAGVALG-D--------QGGKEFG | 335 |
KCNS2 | -------FAVAPDFLKFFKNALNLIDLMSI>V<PFYITLVVNLV---V--------ESTPTLA | 288 |
KCNS3 | -------LAAAPCQKKFWKNPLNIIDFVSI>I<PFYATLAVDTK---E--------EESEDIE | 283 |
KCNV1 | -------FLCVRDRCRFLRKVPNIIDLLAI>L<PFYITLLVESLSG-S--------QTTQELE | 305 |
KCNV2 | -------LASTPDLRRFARSALNLVDLVAI>L<PLYLQLLLECFTGEGH----QRGQTVGSVG | 370 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V207M | c.619G>A | Conflict | rs75813654 | SIFT: deleterious Polyphen: possibly damaging | |
Reports | Putative Benign | Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677 | |||
Inherited Arrhythmia | LQTS | Identification of an ethnic-specific variant (V207M) of the KCNQ1 cardiac potassium channel gene in sudden unexplained death and implications from a knock-in mouse model. Int J Legal Med. 2009 123(3):253-7. 19198868 | |||
Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||
Putative Benign | 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 | ||||
Unknown | Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs. J Gen Physiol. 2010 135(5):433-48. 20421371 | ||||
Other Disease Phenotype | Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series. Int J Legal Med. 2014 25119684 | ||||
p.V207L | c.619G>C | Putative Benign | SIFT: Polyphen: |