No paralogue variants have been mapped to residue 150 for KCNQ1.
KCNQ1 | ------------------------------>A<LATGT-LF-WMEIVLVVFFGTEYVVRLWSA | 178 |
KCNQ2 | ------------------------------>K<SSEGA-LY-ILEIVTIVVFGVEYFVRIWAA | 148 |
KCNQ3 | ------------------------------>T<VSGDW-LL-LLETFAIFIFGAEFALRIWAA | 178 |
KCNQ4 | ------------------------------>E<LANEC-LL-ILEFVMIVVFGLEYIVRVWSA | 154 |
KCNQ5 | ------------------------------>K<LASSC-LL-ILEFVMIVVFGLEFIIRIWSA | 182 |
KCNA1 | ----TV-H-RI----D------NTTVIYNS>N<IFTDP-FF-IVETLCIIWFSFELVVR---- | 239 |
KCNA10 | ----VR-DPN-----L-----NMSKTVLSQ>T<MFTDP-FF-MVESTCIVWFTFELVLR---- | 289 |
KCNA2 | ----TF-H-TY----S-----NSTIGYQQS>T<SFTDP-FF-IVETLCIIWFSFEFLVR---- | 240 |
KCNA3 | ----SF-E-AAG---N-----STSGSRAGA>S<SFSDP-FF-VVETLCIIWFSFELLVR---- | 313 |
KCNA4 | ----GH-G-GLLNDTS-----APHLENSGH>T<IFNDP-FF-IVETVCIVWFSFEFVVR---- | 389 |
KCNA5 | PGAN--GS-GVMAPPS-----GPTVAPLLP>R<TLADP-FF-IVETTCVIWFTFELLVR---- | 342 |
KCNA6 | EDDSYTFH-HGITPGEMGTGGSSSLSTLGG>S<FFTDP-FF-LVETLCIVWFTFELLVR---- | 281 |
KCNA7 | ----PF-P-APL-NGS-----SQMPGNPPR>L<PFNDP-FF-VVETLCICWFSFELLVR---- | 227 |
KCNB1 | ------------------------------>-<STDNPQLA-HVEAVCIAWFTMEYLLR---- | 247 |
KCNB2 | ------------------------------>-<LNDNRQLA-HVEAVCIAWFTMEYLLR---- | 251 |
KCNC1 | -------N-V-----R-----NGTQVRYYR>E<AETEA-FLTYIEGVCVVWFTFEFLMR---- | 263 |
KCNC2 | -------P-V-----I-----NGTSVVLQY>E<IETDP-ALTYVEGVCVVWFTFEFLVR---- | 300 |
KCNC3 | ----SP-I-P-----G-----APPENITNV>E<VETEP-FLTYVEGVCVVWFTFEFLMR---- | 366 |
KCNC4 | -------R-V-----G-----NITSVHFRR>E<VETEP-ILTYIEGVCVLWFTLEFLVR---- | 299 |
KCND1 | -------------------------EQPCG>E<RFPQA-FF-CMDTACVLIFTGEYLLR---- | 249 |
KCND2 | -------------------------ELPCG>E<RYAVA-FF-CLDTACVMIFTVEYLLR---- | 247 |
KCND3 | -------------------------ELPCG>E<RYSVA-FF-CLDTACVMIFTVEYLLR---- | 244 |
KCNF1 | ------------------------------>-<RVEHPTLE-NVETACIGWFTLEYLLR---- | 240 |
KCNG1 | ---------C-------------------->S<QMCHN-VF-IVESVCVGWFSLEFLLR---- | 286 |
KCNG2 | ---------C-------------------->S<PKCRS-LF-VLETVCVAWFSFEFLLR---- | 236 |
KCNG3 | ---------S-L----------DDRSRYSA>G<PGREP-SG-IIEAICIGWFTAECIVR---- | 239 |
KCNG4 | ---------C-------------------->S<RKCYY-IF-IVETICVAWFSLEFCLR---- | 280 |
KCNS1 | ---------VA----------AVAAGRSPE>G<VRDDPVLR-RLEYFCIAWFSFEVSSR---- | 290 |
KCNS2 | ------------------------------>-<PGEDPRFE-IVEHFGIAWFTFELVAR---- | 245 |
KCNS3 | ------------------------------>-<-VDDPVLE-GVEIACIAWFTGELAVR---- | 240 |
KCNV1 | ------------------------------>-<WLDLQLLE-ILEYVCISWFTGEFVLR---- | 260 |
KCNV2 | ---------G-------------------->G<PDLRPILE-HVEMLCMGFFTLEYLLR---- | 320 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A150G | c.449C>G | Inherited Arrhythmia | LQTS | rs199473452 | SIFT: tolerated Polyphen: benign |
Reports | Inherited Arrhythmia | LQTS | The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833 |