No paralogue variants have been mapped to residue 208 for KCNQ1.
KCNQ1 | AGCRSKYVGLWGRLRFARKPISIIDLIVVV>A<SMVVLCVG----------------SKGQVF | 222 |
KCNQ2 | AGCCCRYRGWRGRLKFARKPFCVIDIMVLI>A<SIAVLAAG----------------SQGNVF | 192 |
KCNQ3 | AGCCCRYKGWRGRLKFARKPLCMLDIFVLI>A<SVPVVAVG----------------NQGNVL | 222 |
KCNQ4 | AGCCCRYRGWQGRFRFARKPFCVIDFIVFV>A<SVAVIAAG----------------TQGNIF | 198 |
KCNQ5 | AGCCCRYRGWQGRLRFARKPFCVIDTIVLI>A<SIAVVSAK----------------TQGNIF | 226 |
KCNA1 | ------FFACPSKTDFFKNIMNFIDIVAII>P<YFITLGTEIAEQEG-------N-QKGEQAT | 286 |
KCNA10 | ------FVVCPSKTDFFRNIMNIIDIISII>P<YFATLITELVQETEP---------SAQQNM | 335 |
KCNA2 | ------FFACPSKAGFFTNIMNIIDIVAII>P<YFITLGTELAEKPE-------DAQQGQQAM | 288 |
KCNA3 | ------FFACPSKATFSRNIMNLIDIVAII>P<YFITLGTELAERQ----------GNGQQAM | 358 |
KCNA4 | ------CFACPSQALFFKNIMNIIDIVSIL>P<YFITLGTDLAQQQGG------GNGQQQQAM | 438 |
KCNA5 | ------FFACPSKAGFSRNIMNIIDVVAIF>P<YFITLGTELAEQQ---PGGGGGGQNGQQAM | 394 |
KCNA6 | ------FSACPSKPAFFRNIMNIIDLVAIF>P<YFITLGTELVQQQEQQPASGGGGQNGQQAM | 336 |
KCNA7 | ------LLVCPSKAIFFKNVMNLIDFVAIL>P<YFVALGTELARQR----------GVGQQAM | 272 |
KCNB1 | ------FLSSPKKWKFFKGPLNAIDLLAIL>P<YYVTIFLTES---N--------KSVLQFQN | 291 |
KCNB2 | ------FLSSPNKWKFFKGPLNVIDLLAIL>P<YYVTIFLTES---N--------KSVLQFQN | 295 |
KCNC1 | ------VIFCPNKVEFIKNSLNIIDFVAIL>P<FYLEVGLSG-------------LSSKAAKD | 305 |
KCNC2 | ------IVFSPNKLEFIKNLLNIIDFVAIL>P<FYLEVGLSG-------------LSSKAAKD | 342 |
KCNC3 | ------ITFCPDKVEFLKSSLNIIDCVAIL>P<FYLEVGLSG-------------LSSKAAKD | 408 |
KCNC4 | ------IVCCPDTLDFVKNLLNIIDFVAIL>P<FYLEVGLSG-------------LSSKAARD | 341 |
KCND1 | ------LFAAPSRCRFLRSVMSLIDVVAIL>P<YYIGLLVP------------------KNDD | 286 |
KCND2 | ------LAAAPSRYRFVRSVMSIIDVVAIL>P<YYIGLVMT------------------DNED | 284 |
KCND3 | ------LFAAPSRYRFIRSVMSIIDVVAIM>P<YYIGLVMT------------------NNED | 281 |
KCNF1 | ------LFSSPNKLHFALSFMNIVDVLAIL>P<FYVSLTLTHL-----------GARMMELTN | 284 |
KCNG1 | ------LIQAPSKFAFLRSPLTLIDLVAIL>P<YYITLLVDGAAAGRR----KPGAGNSYLDK | 337 |
KCNG2 | ------SLQAESKCAFLRAPLNIIDILALL>P<FYVSLLLGL-----A----AGPGGTKLLER | 282 |
KCNG3 | ------FIVSKNKCEFVKRPLNIIDLLAIT>P<YYISVLMTV-----------FTGENSQLQR | 283 |
KCNG4 | ------FVQAQDKCQFFQGPLNIIDILAIS>P<YYVSLAVSEEPPEDG----ERPSGSSYLEK | 331 |
KCNS1 | ------LLLAPSTRNFFCHPLNLIDIVSVL>P<FYLTLLAGVALG-D--------QGGKEFGH | 336 |
KCNS2 | ------FAVAPDFLKFFKNALNLIDLMSIV>P<FYITLVVNLV---V--------ESTPTLAN | 289 |
KCNS3 | ------LAAAPCQKKFWKNPLNIIDFVSII>P<FYATLAVDTK---E--------EESEDIEN | 284 |
KCNV1 | ------FLCVRDRCRFLRKVPNIIDLLAIL>P<FYITLLVESLSG-S--------QTTQELEN | 306 |
KCNV2 | ------LASTPDLRRFARSALNLVDLVAIL>P<LYLQLLLECFTGEGH----QRGQTVGSVGK | 371 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A208V | c.623C>T | Putative Benign | SIFT: Polyphen: |