No paralogue variants have been mapped to residue 157 for KCNQ1.
| KCNQ1 | ----------------------ALATGT-L>F<-WMEIVLVVFFGTEYVVRLWSAGCRSKYVG | 186 |
| KCNQ2 | ----------------------KSSEGA-L>Y<-ILEIVTIVVFGVEYFVRIWAAGCCCRYRG | 156 |
| KCNQ3 | ----------------------TVSGDW-L>L<-LLETFAIFIFGAEFALRIWAAGCCCRYKG | 186 |
| KCNQ4 | ----------------------ELANEC-L>L<-ILEFVMIVVFGLEYIVRVWSAGCCCRYRG | 162 |
| KCNQ5 | ----------------------KLASSC-L>L<-ILEFVMIVVFGLEFIIRIWSAGCCCRYRG | 190 |
| KCNA1 | -RI----D------NTTVIYNSNIFTDP-F>F<-IVETLCIIWFSFELVVR---------FFA | 242 |
| KCNA10 | PN-----L-----NMSKTVLSQTMFTDP-F>F<-MVESTCIVWFTFELVLR---------FVV | 292 |
| KCNA2 | -TY----S-----NSTIGYQQSTSFTDP-F>F<-IVETLCIIWFSFEFLVR---------FFA | 243 |
| KCNA3 | -AAG---N-----STSGSRAGASSFSDP-F>F<-VVETLCIIWFSFELLVR---------FFA | 316 |
| KCNA4 | -GLLNDTS-----APHLENSGHTIFNDP-F>F<-IVETVCIVWFSFEFVVR---------CFA | 392 |
| KCNA5 | -GVMAPPS-----GPTVAPLLPRTLADP-F>F<-IVETTCVIWFTFELLVR---------FFA | 345 |
| KCNA6 | -HGITPGEMGTGGSSSLSTLGGSFFTDP-F>F<-LVETLCIVWFTFELLVR---------FSA | 284 |
| KCNA7 | -APL-NGS-----SQMPGNPPRLPFNDP-F>F<-VVETLCICWFSFELLVR---------LLV | 230 |
| KCNB1 | -----------------------STDNPQL>A<-HVEAVCIAWFTMEYLLR---------FLS | 250 |
| KCNB2 | -----------------------LNDNRQL>A<-HVEAVCIAWFTMEYLLR---------FLS | 254 |
| KCNC1 | -V-----R-----NGTQVRYYREAETEA-F>L<TYIEGVCVVWFTFEFLMR---------VIF | 266 |
| KCNC2 | -V-----I-----NGTSVVLQYEIETDP-A>L<TYVEGVCVVWFTFEFLVR---------IVF | 303 |
| KCNC3 | -P-----G-----APPENITNVEVETEP-F>L<TYVEGVCVVWFTFEFLMR---------ITF | 369 |
| KCNC4 | -V-----G-----NITSVHFRREVETEP-I>L<TYIEGVCVLWFTLEFLVR---------IVC | 302 |
| KCND1 | -----------------EQPCGERFPQA-F>F<-CMDTACVLIFTGEYLLR---------LFA | 252 |
| KCND2 | -----------------ELPCGERYAVA-F>F<-CLDTACVMIFTVEYLLR---------LAA | 250 |
| KCND3 | -----------------ELPCGERYSVA-F>F<-CLDTACVMIFTVEYLLR---------LFA | 247 |
| KCNF1 | -----------------------RVEHPTL>E<-NVETACIGWFTLEYLLR---------LFS | 243 |
| KCNG1 | -C--------------------SQMCHN-V>F<-IVESVCVGWFSLEFLLR---------LIQ | 289 |
| KCNG2 | -C--------------------SPKCRS-L>F<-VLETVCVAWFSFEFLLR---------SLQ | 239 |
| KCNG3 | -S-L----------DDRSRYSAGPGREP-S>G<-IIEAICIGWFTAECIVR---------FIV | 242 |
| KCNG4 | -C--------------------SRKCYY-I>F<-IVETICVAWFSLEFCLR---------FVQ | 283 |
| KCNS1 | -VA----------AVAAGRSPEGVRDDPVL>R<-RLEYFCIAWFSFEVSSR---------LLL | 293 |
| KCNS2 | -----------------------PGEDPRF>E<-IVEHFGIAWFTFELVAR---------FAV | 248 |
| KCNS3 | ------------------------VDDPVL>E<-GVEIACIAWFTGELAVR---------LAA | 243 |
| KCNV1 | -----------------------WLDLQLL>E<-ILEYVCISWFTGEFVLR---------FLC | 263 |
| KCNV2 | -G--------------------GPDLRPIL>E<-HVEMLCMGFFTLEYLLR---------LAS | 323 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.F157C | c.470T>G | Inherited Arrhythmia | LQTS | rs199472690 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants. Hum Mutat. 1999 13(4):318-27. 10220146 | ||
| Inherited Arrhythmia | LQTS | Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. Eur J Hum Genet. 1999 7(6):724-8. 10482963 | |||