No paralogue variants have been mapped to residue 210 for KCNQ1.
KCNQ1 | CRSKYVGLWGRLRFARKPISIIDLIVVVAS>M<VVLCVG----------------SKGQVFAT | 224 |
KCNQ2 | CCCRYRGWRGRLKFARKPFCVIDIMVLIAS>I<AVLAAG----------------SQGNVFAT | 194 |
KCNQ3 | CCCRYKGWRGRLKFARKPLCMLDIFVLIAS>V<PVVAVG----------------NQGNVLA- | 223 |
KCNQ4 | CCCRYRGWQGRFRFARKPFCVIDFIVFVAS>V<AVIAAG----------------TQGNIFAT | 200 |
KCNQ5 | CCCRYRGWQGRLRFARKPFCVIDTIVLIAS>I<AVVSAK----------------TQGNIFAT | 228 |
KCNA1 | ----FFACPSKTDFFKNIMNFIDIVAIIPY>F<ITLGTEIAEQEG-------N-QKGEQATSL | 288 |
KCNA10 | ----FVVCPSKTDFFRNIMNIIDIISIIPY>F<ATLITELVQETEP---------SAQQNMSL | 337 |
KCNA2 | ----FFACPSKAGFFTNIMNIIDIVAIIPY>F<ITLGTELAEKPE-------DAQQGQQAMSL | 290 |
KCNA3 | ----FFACPSKATFSRNIMNLIDIVAIIPY>F<ITLGTELAERQ----------GNGQQAMSL | 360 |
KCNA4 | ----CFACPSQALFFKNIMNIIDIVSILPY>F<ITLGTDLAQQQGG------GNGQQQQAMSF | 440 |
KCNA5 | ----FFACPSKAGFSRNIMNIIDVVAIFPY>F<ITLGTELAEQQ---PGGGGGGQNGQQAMSL | 396 |
KCNA6 | ----FSACPSKPAFFRNIMNIIDLVAIFPY>F<ITLGTELVQQQEQQPASGGGGQNGQQAMSL | 338 |
KCNA7 | ----LLVCPSKAIFFKNVMNLIDFVAILPY>F<VALGTELARQR----------GVGQQAMSL | 274 |
KCNB1 | ----FLSSPKKWKFFKGPLNAIDLLAILPY>Y<VTIFLTES---N--------KSVLQFQNVR | 293 |
KCNB2 | ----FLSSPNKWKFFKGPLNVIDLLAILPY>Y<VTIFLTES---N--------KSVLQFQNVR | 297 |
KCNC1 | ----VIFCPNKVEFIKNSLNIIDFVAILPF>Y<LEVGLSG-------------LSSKAAKDVL | 307 |
KCNC2 | ----IVFSPNKLEFIKNLLNIIDFVAILPF>Y<LEVGLSG-------------LSSKAAKDVL | 344 |
KCNC3 | ----ITFCPDKVEFLKSSLNIIDCVAILPF>Y<LEVGLSG-------------LSSKAAKDVL | 410 |
KCNC4 | ----IVCCPDTLDFVKNLLNIIDFVAILPF>Y<LEVGLSG-------------LSSKAARDVL | 343 |
KCND1 | ----LFAAPSRCRFLRSVMSLIDVVAILPY>Y<IGLLVP------------------KNDDVS | 288 |
KCND2 | ----LAAAPSRYRFVRSVMSIIDVVAILPY>Y<IGLVMT------------------DNEDVS | 286 |
KCND3 | ----LFAAPSRYRFIRSVMSIIDVVAIMPY>Y<IGLVMT------------------NNEDVS | 283 |
KCNF1 | ----LFSSPNKLHFALSFMNIVDVLAILPF>Y<VSLTLTHL-----------GARMMELTNVQ | 286 |
KCNG1 | ----LIQAPSKFAFLRSPLTLIDLVAILPY>Y<ITLLVDGAAAGRR----KPGAGNSYLDKVG | 339 |
KCNG2 | ----SLQAESKCAFLRAPLNIIDILALLPF>Y<VSLLLGL-----A----AGPGGTKLLERAG | 284 |
KCNG3 | ----FIVSKNKCEFVKRPLNIIDLLAITPY>Y<ISVLMTV-----------FTGENSQLQRAG | 285 |
KCNG4 | ----FVQAQDKCQFFQGPLNIIDILAISPY>Y<VSLAVSEEPPEDG----ERPSGSSYLEKVG | 333 |
KCNS1 | ----LLLAPSTRNFFCHPLNLIDIVSVLPF>Y<LTLLAGVALG-D--------QGGKEFGHLG | 338 |
KCNS2 | ----FAVAPDFLKFFKNALNLIDLMSIVPF>Y<ITLVVNLV---V--------ESTPTLANLG | 291 |
KCNS3 | ----LAAAPCQKKFWKNPLNIIDFVSIIPF>Y<ATLAVDTK---E--------EESEDIENMG | 286 |
KCNV1 | ----FLCVRDRCRFLRKVPNIIDLLAILPF>Y<ITLLVESLSG-S--------QTTQELENVG | 308 |
KCNV2 | ----LASTPDLRRFARSALNLVDLVAILPL>Y<LQLLLECFTGEGH----QRGQTVGSVGKVG | 373 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M210I | c.630G>A | Putative Benign | SIFT: Polyphen: | ||
p.Met210Thr | c.629T>C | Unknown | SIFT: Polyphen: |