No paralogue variants have been mapped to residue 214 for KCNQ1.
KCNQ1 | YVGLWGRLRFARKPISIIDLIVVVASMVVL>C<VG----------------SKGQVFATSAIR | 228 |
KCNQ2 | YRGWRGRLKFARKPFCVIDIMVLIASIAVL>A<AG----------------SQGNVFATSALR | 198 |
KCNQ3 | YKGWRGRLKFARKPLCMLDIFVLIASVPVV>A<VG----------------NQGNVLA-TSLR | 227 |
KCNQ4 | YRGWQGRFRFARKPFCVIDFIVFVASVAVI>A<AG----------------TQGNIFATSALR | 204 |
KCNQ5 | YRGWQGRLRFARKPFCVIDTIVLIASIAVV>S<AK----------------TQGNIFATSALR | 232 |
KCNA1 | FFACPSKTDFFKNIMNFIDIVAIIPYFITL>G<TEIAEQEG-------N-QKGEQATSLAILR | 292 |
KCNA10 | FVVCPSKTDFFRNIMNIIDIISIIPYFATL>I<TELVQETEP---------SAQQNMSLAILR | 341 |
KCNA2 | FFACPSKAGFFTNIMNIIDIVAIIPYFITL>G<TELAEKPE-------DAQQGQQAMSLAILR | 294 |
KCNA3 | FFACPSKATFSRNIMNLIDIVAIIPYFITL>G<TELAERQ----------GNGQQAMSLAILR | 364 |
KCNA4 | CFACPSQALFFKNIMNIIDIVSILPYFITL>G<TDLAQQQGG------GNGQQQQAMSFAILR | 444 |
KCNA5 | FFACPSKAGFSRNIMNIIDVVAIFPYFITL>G<TELAEQQ---PGGGGGGQNGQQAMSLAILR | 400 |
KCNA6 | FSACPSKPAFFRNIMNIIDLVAIFPYFITL>G<TELVQQQEQQPASGGGGQNGQQAMSLAILR | 342 |
KCNA7 | LLVCPSKAIFFKNVMNLIDFVAILPYFVAL>G<TELARQR----------GVGQQAMSLAILR | 278 |
KCNB1 | FLSSPKKWKFFKGPLNAIDLLAILPYYVTI>F<LTES---N--------KSVLQFQNVRRVVQ | 297 |
KCNB2 | FLSSPNKWKFFKGPLNVIDLLAILPYYVTI>F<LTES---N--------KSVLQFQNVRRVVQ | 301 |
KCNC1 | VIFCPNKVEFIKNSLNIIDFVAILPFYLEV>G<LSG-------------LSSKAAKDVLGFLR | 311 |
KCNC2 | IVFSPNKLEFIKNLLNIIDFVAILPFYLEV>G<LSG-------------LSSKAAKDVLGFLR | 348 |
KCNC3 | ITFCPDKVEFLKSSLNIIDCVAILPFYLEV>G<LSG-------------LSSKAAKDVLGFLR | 414 |
KCNC4 | IVCCPDTLDFVKNLLNIIDFVAILPFYLEV>G<LSG-------------LSSKAARDVLGFLR | 347 |
KCND1 | LFAAPSRCRFLRSVMSLIDVVAILPYYIGL>L<VP------------------KNDDVSGAFV | 292 |
KCND2 | LAAAPSRYRFVRSVMSIIDVVAILPYYIGL>V<MT------------------DNEDVSGAFV | 290 |
KCND3 | LFAAPSRYRFIRSVMSIIDVVAIMPYYIGL>V<MT------------------NNEDVSGAFV | 287 |
KCNF1 | LFSSPNKLHFALSFMNIVDVLAILPFYVSL>T<LTHL-----------GARMMELTNVQQAVQ | 290 |
KCNG1 | LIQAPSKFAFLRSPLTLIDLVAILPYYITL>L<VDGAAAGRR----KPGAGNSYLDKVGLVLR | 343 |
KCNG2 | SLQAESKCAFLRAPLNIIDILALLPFYVSL>L<LGL-----A----AGPGGTKLLERAGLVLR | 288 |
KCNG3 | FIVSKNKCEFVKRPLNIIDLLAITPYYISV>L<MTV-----------FTGENSQLQRAGVTLR | 289 |
KCNG4 | FVQAQDKCQFFQGPLNIIDILAISPYYVSL>A<VSEEPPEDG----ERPSGSSYLEKVGLVLR | 337 |
KCNS1 | LLLAPSTRNFFCHPLNLIDIVSVLPFYLTL>L<AGVALG-D--------QGGKEFGHLGKVVQ | 342 |
KCNS2 | FAVAPDFLKFFKNALNLIDLMSIVPFYITL>V<VNLV---V--------ESTPTLANLGRVAQ | 295 |
KCNS3 | LAAAPCQKKFWKNPLNIIDFVSIIPFYATL>A<VDTK---E--------EESEDIENMGKVVQ | 290 |
KCNV1 | FLCVRDRCRFLRKVPNIIDLLAILPFYITL>L<VESLSG-S--------QTTQELENVGRIVQ | 312 |
KCNV2 | LASTPDLRRFARSALNLVDLVAILPLYLQL>L<LECFTGEGH----QRGQTVGSVGKVGQVLR | 377 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.C214Y | c.641G>A | Putative Benign | rs142496309 | SIFT: tolerated Polyphen: benign |