No paralogue variants have been mapped to residue 227 for KCNQ1.
KCNQ1 | LCVG----------------SKGQVFATSA>I<RGIRFLQILRMLHVDRQGGTWRLLGSVVFI | 257 |
KCNQ2 | LAAG----------------SQGNVFATSA>L<RSLRFLQILRMIRMDRRGGTWKLLGSVVYA | 227 |
KCNQ3 | VAVG----------------NQGNVLA-TS>L<RSLRFLQILRMLRMDRRGGTWKLLGSAICA | 256 |
KCNQ4 | IAAG----------------TQGNIFATSA>L<RSMRFLQILRMVRMDRRGGTWKLLGSVVYA | 233 |
KCNQ5 | VSAK----------------TQGNIFATSA>L<RSLRFLQILRMVRMDRRGGTWKLLGSVVYA | 261 |
KCNA1 | LGTEIAEQEG-------N-QKGEQATSLAI>L<RVIRLVRVFRIFKLSRHSKGLQILGQTLKA | 321 |
KCNA10 | LITELVQETEP---------SAQQNMSLAI>L<RIIRLVRVFRIFKLSRHSKGLQILGQTLKA | 370 |
KCNA2 | LGTELAEKPE-------DAQQGQQAMSLAI>L<RVIRLVRVFRIFKLSRHSKGLQILGQTLKA | 323 |
KCNA3 | LGTELAERQ----------GNGQQAMSLAI>L<RVIRLVRVFRIFKLSRHSKGLQILGQTLKA | 393 |
KCNA4 | LGTDLAQQQGG------GNGQQQQAMSFAI>L<RIIRLVRVFRIFKLSRHSKGLQILGHTLRA | 473 |
KCNA5 | LGTELAEQQ---PGGGGGGQNGQQAMSLAI>L<RVIRLVRVFRIFKLSRHSKGLQILGKTLQA | 429 |
KCNA6 | LGTELVQQQEQQPASGGGGQNGQQAMSLAI>L<RVIRLVRVFRIFKLSRHSKGLQILGKTLQA | 371 |
KCNA7 | LGTELARQR----------GVGQQAMSLAI>L<RVIRLVRVFRIFKLSRHSKGLQILGQTLRA | 307 |
KCNB1 | IFLTES---N--------KSVLQFQNVRRV>V<QIFRIMRILRILKLARHSTGLQSLGFTLRR | 326 |
KCNB2 | IFLTES---N--------KSVLQFQNVRRV>V<QIFRIMRILRILKLARHSTGLQSLGFTLRR | 330 |
KCNC1 | VGLSG-------------LSSKAAKDVLGF>L<RVVRFVRILRIFKLTRHFVGLRVLGHTLRA | 340 |
KCNC2 | VGLSG-------------LSSKAAKDVLGF>L<RVVRFVRILRIFKLTRHFVGLRVLGHTLRA | 377 |
KCNC3 | VGLSG-------------LSSKAAKDVLGF>L<RVVRFVRILRIFKLTRHFVGLRVLGHTLRA | 443 |
KCNC4 | VGLSG-------------LSSKAARDVLGF>L<RVVRFVRILRIFKLTRHFVGLRVLGHTLRA | 376 |
KCND1 | LLVP------------------KNDDVSGA>F<VTLRVFRVFRIFKFSRHSQGLRILGYTLKS | 321 |
KCND2 | LVMT------------------DNEDVSGA>F<VTLRVFRVFRIFKFSRHSQGLRILGYTLKS | 319 |
KCND3 | LVMT------------------NNEDVSGA>F<VTLRVFRVFRIFKFSRHSQGLRILGYTLKS | 316 |
KCNF1 | LTLTHL-----------GARMMELTNVQQA>V<QALRIMRIARIFKLARHSSGLQTLTYALKR | 319 |
KCNG1 | LLVDGAAAGRR----KPGAGNSYLDKVGLV>L<RVLRALRILYVMRLARHSLGLQTLGLTARR | 372 |
KCNG2 | LLLGL-----A----AGPGGTKLLERAGLV>L<RLLRALRVLYVMRLARHSLGLRSLGLTMRR | 317 |
KCNG3 | VLMTV-----------FTGENSQLQRAGVT>L<RVLRMMRIFWVIKLARHFIGLQTLGLTLKR | 318 |
KCNG4 | LAVSEEPPEDG----ERPSGSSYLEKVGLV>L<RVLRALRILYVMRLARHSLGLQTLGLTVRR | 366 |
KCNS1 | LLAGVALG-D--------QGGKEFGHLGKV>V<QVFRLMRIFRVLKLARHSTGLRSLGATLKH | 371 |
KCNS2 | LVVNLV---V--------ESTPTLANLGRV>A<QVLRLMRIFRILKLARHSTGLRSLGATLKY | 324 |
KCNS3 | LAVDTK---E--------EESEDIENMGKV>V<QILRLMRIFRILKLARHSVGLRSLGATLRH | 319 |
KCNV1 | LLVESLSG-S--------QTTQELENVGRI>V<QVLRLLRALRMLKLGRHSTGLRSLGMTITQ | 341 |
KCNV2 | LLLECFTGEGH----QRGQTVGSVGKVGQV>L<RVMRLMRIFRILKLARHSTGLRAFGFTLRQ | 406 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Ile227Leu | c.679A>C | Unknown | SIFT: Polyphen: |