No paralogue variants have been mapped to residue 217 for KCNQ1.
KCNQ1 | LIVVVASMVVLCVG---------------->S<KGQVFATSAIRGIRFLQILRMLHVDRQGGT | 247 |
KCNQ2 | IMVLIASIAVLAAG---------------->S<QGNVFATSALRSLRFLQILRMIRMDRRGGT | 217 |
KCNQ3 | IFVLIASVPVVAVG---------------->N<QGNVLA-TSLRSLRFLQILRMLRMDRRGGT | 246 |
KCNQ4 | FIVFVASVAVIAAG---------------->T<QGNIFATSALRSMRFLQILRMVRMDRRGGT | 223 |
KCNQ5 | TIVLIASIAVVSAK---------------->T<QGNIFATSALRSLRFLQILRMVRMDRRGGT | 251 |
KCNA1 | IVAIIPYFITLGTEIAEQEG-------N-Q>K<GEQATSLAILRVIRLVRVFRIFKLSRHSKG | 311 |
KCNA10 | IISIIPYFATLITELVQETEP--------->S<AQQNMSLAILRIIRLVRVFRIFKLSRHSKG | 360 |
KCNA2 | IVAIIPYFITLGTELAEKPE-------DAQ>Q<GQQAMSLAILRVIRLVRVFRIFKLSRHSKG | 313 |
KCNA3 | IVAIIPYFITLGTELAERQ----------G>N<GQQAMSLAILRVIRLVRVFRIFKLSRHSKG | 383 |
KCNA4 | IVSILPYFITLGTDLAQQQGG------GNG>Q<QQQAMSFAILRIIRLVRVFRIFKLSRHSKG | 463 |
KCNA5 | VVAIFPYFITLGTELAEQQ---PGGGGGGQ>N<GQQAMSLAILRVIRLVRVFRIFKLSRHSKG | 419 |
KCNA6 | LVAIFPYFITLGTELVQQQEQQPASGGGGQ>N<GQQAMSLAILRVIRLVRVFRIFKLSRHSKG | 361 |
KCNA7 | FVAILPYFVALGTELARQR----------G>V<GQQAMSLAILRVIRLVRVFRIFKLSRHSKG | 297 |
KCNB1 | LLAILPYYVTIFLTES---N--------KS>V<LQFQNVRRVVQIFRIMRILRILKLARHSTG | 316 |
KCNB2 | LLAILPYYVTIFLTES---N--------KS>V<LQFQNVRRVVQIFRIMRILRILKLARHSTG | 320 |
KCNC1 | FVAILPFYLEVGLSG-------------LS>S<KAAKDVLGFLRVVRFVRILRIFKLTRHFVG | 330 |
KCNC2 | FVAILPFYLEVGLSG-------------LS>S<KAAKDVLGFLRVVRFVRILRIFKLTRHFVG | 367 |
KCNC3 | CVAILPFYLEVGLSG-------------LS>S<KAAKDVLGFLRVVRFVRILRIFKLTRHFVG | 433 |
KCNC4 | FVAILPFYLEVGLSG-------------LS>S<KAARDVLGFLRVVRFVRILRIFKLTRHFVG | 366 |
KCND1 | VVAILPYYIGLLVP---------------->-<-KNDDVSGAFVTLRVFRVFRIFKFSRHSQG | 311 |
KCND2 | VVAILPYYIGLVMT---------------->-<-DNEDVSGAFVTLRVFRVFRIFKFSRHSQG | 309 |
KCND3 | VVAIMPYYIGLVMT---------------->-<-NNEDVSGAFVTLRVFRVFRIFKFSRHSQG | 306 |
KCNF1 | VLAILPFYVSLTLTHL-----------GAR>M<MELTNVQQAVQALRIMRIARIFKLARHSSG | 309 |
KCNG1 | LVAILPYYITLLVDGAAAGRR----KPGAG>N<SYLDKVGLVLRVLRALRILYVMRLARHSLG | 362 |
KCNG2 | ILALLPFYVSLLLGL-----A----AGPGG>T<KLLERAGLVLRLLRALRVLYVMRLARHSLG | 307 |
KCNG3 | LLAITPYYISVLMTV-----------FTGE>N<SQLQRAGVTLRVLRMMRIFWVIKLARHFIG | 308 |
KCNG4 | ILAISPYYVSLAVSEEPPEDG----ERPSG>S<SYLEKVGLVLRVLRALRILYVMRLARHSLG | 356 |
KCNS1 | IVSVLPFYLTLLAGVALG-D--------QG>G<KEFGHLGKVVQVFRLMRIFRVLKLARHSTG | 361 |
KCNS2 | LMSIVPFYITLVVNLV---V--------ES>T<PTLANLGRVAQVLRLMRIFRILKLARHSTG | 314 |
KCNS3 | FVSIIPFYATLAVDTK---E--------EE>S<EDIENMGKVVQILRLMRIFRILKLARHSVG | 309 |
KCNV1 | LLAILPFYITLLVESLSG-S--------QT>T<QELENVGRIVQVLRLLRALRMLKLGRHSTG | 331 |
KCNV2 | LVAILPLYLQLLLECFTGEGH----QRGQT>V<GSVGKVGQVLRVMRLMRIFRILKLARHSTG | 396 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Ser217Phe | c.650C>T | Unknown | SIFT: Polyphen: |