No paralogue variants have been mapped to residue 220 for KCNQ1.
KCNQ1 | VVASMVVLCVG----------------SKG>Q<VFATSAIRGIRFLQILRMLHVDRQGGTWRL | 250 |
KCNQ2 | LIASIAVLAAG----------------SQG>N<VFATSALRSLRFLQILRMIRMDRRGGTWKL | 220 |
KCNQ3 | LIASVPVVAVG----------------NQG>N<VLA-TSLRSLRFLQILRMLRMDRRGGTWKL | 249 |
KCNQ4 | FVASVAVIAAG----------------TQG>N<IFATSALRSMRFLQILRMVRMDRRGGTWKL | 226 |
KCNQ5 | LIASIAVVSAK----------------TQG>N<IFATSALRSLRFLQILRMVRMDRRGGTWKL | 254 |
KCNA1 | IIPYFITLGTEIAEQEG-------N-QKGE>Q<ATSLAILRVIRLVRVFRIFKLSRHSKGLQI | 314 |
KCNA10 | IIPYFATLITELVQETEP---------SAQ>Q<NMSLAILRIIRLVRVFRIFKLSRHSKGLQI | 363 |
KCNA2 | IIPYFITLGTELAEKPE-------DAQQGQ>Q<AMSLAILRVIRLVRVFRIFKLSRHSKGLQI | 316 |
KCNA3 | IIPYFITLGTELAERQ----------GNGQ>Q<AMSLAILRVIRLVRVFRIFKLSRHSKGLQI | 386 |
KCNA4 | ILPYFITLGTDLAQQQGG------GNGQQQ>Q<AMSFAILRIIRLVRVFRIFKLSRHSKGLQI | 466 |
KCNA5 | IFPYFITLGTELAEQQ---PGGGGGGQNGQ>Q<AMSLAILRVIRLVRVFRIFKLSRHSKGLQI | 422 |
KCNA6 | IFPYFITLGTELVQQQEQQPASGGGGQNGQ>Q<AMSLAILRVIRLVRVFRIFKLSRHSKGLQI | 364 |
KCNA7 | ILPYFVALGTELARQR----------GVGQ>Q<AMSLAILRVIRLVRVFRIFKLSRHSKGLQI | 300 |
KCNB1 | ILPYYVTIFLTES---N--------KSVLQ>F<QNVRRVVQIFRIMRILRILKLARHSTGLQS | 319 |
KCNB2 | ILPYYVTIFLTES---N--------KSVLQ>F<QNVRRVVQIFRIMRILRILKLARHSTGLQS | 323 |
KCNC1 | ILPFYLEVGLSG-------------LSSKA>A<KDVLGFLRVVRFVRILRIFKLTRHFVGLRV | 333 |
KCNC2 | ILPFYLEVGLSG-------------LSSKA>A<KDVLGFLRVVRFVRILRIFKLTRHFVGLRV | 370 |
KCNC3 | ILPFYLEVGLSG-------------LSSKA>A<KDVLGFLRVVRFVRILRIFKLTRHFVGLRV | 436 |
KCNC4 | ILPFYLEVGLSG-------------LSSKA>A<RDVLGFLRVVRFVRILRIFKLTRHFVGLRV | 369 |
KCND1 | ILPYYIGLLVP------------------K>N<DDVSGAFVTLRVFRVFRIFKFSRHSQGLRI | 314 |
KCND2 | ILPYYIGLVMT------------------D>N<EDVSGAFVTLRVFRVFRIFKFSRHSQGLRI | 312 |
KCND3 | IMPYYIGLVMT------------------N>N<EDVSGAFVTLRVFRVFRIFKFSRHSQGLRI | 309 |
KCNF1 | ILPFYVSLTLTHL-----------GARMME>L<TNVQQAVQALRIMRIARIFKLARHSSGLQT | 312 |
KCNG1 | ILPYYITLLVDGAAAGRR----KPGAGNSY>L<DKVGLVLRVLRALRILYVMRLARHSLGLQT | 365 |
KCNG2 | LLPFYVSLLLGL-----A----AGPGGTKL>L<ERAGLVLRLLRALRVLYVMRLARHSLGLRS | 310 |
KCNG3 | ITPYYISVLMTV-----------FTGENSQ>L<QRAGVTLRVLRMMRIFWVIKLARHFIGLQT | 311 |
KCNG4 | ISPYYVSLAVSEEPPEDG----ERPSGSSY>L<EKVGLVLRVLRALRILYVMRLARHSLGLQT | 359 |
KCNS1 | VLPFYLTLLAGVALG-D--------QGGKE>F<GHLGKVVQVFRLMRIFRVLKLARHSTGLRS | 364 |
KCNS2 | IVPFYITLVVNLV---V--------ESTPT>L<ANLGRVAQVLRLMRIFRILKLARHSTGLRS | 317 |
KCNS3 | IIPFYATLAVDTK---E--------EESED>I<ENMGKVVQILRLMRIFRILKLARHSVGLRS | 312 |
KCNV1 | ILPFYITLLVESLSG-S--------QTTQE>L<ENVGRIVQVLRLLRALRMLKLGRHSTGLRS | 334 |
KCNV2 | ILPLYLQLLLECFTGEGH----QRGQTVGS>V<GKVGQVLRVMRLMRIFRILKLARHSTGLRA | 399 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q220K | c.658C>A | Putative Benign | SIFT: Polyphen: |