No paralogue variants have been mapped to residue 398 for KCNQ1.
| KCNQ1 | ---------------------STWKI-YIR>K<-A--PRSH---------------------- | 403 |
| KCNQ2 | ---------------------STWQY-YER>T<-VTVPMYSS--QT-QTY------------G | 380 |
| KCNQ3 | ---------------------ATWRF-YES>V<-VSFPFFR---------------------- | 412 |
| KCNQ4 | ---------------------ATWYY-YDS>I<-L--PSFRELALL-FEH------------V | 386 |
| KCNQ5 | ---------------------ATWK----->-<----PHLK---------------------- | 398 |
| KCNA1 | --------------------------DL-S>R<--RS-----SS-T-MS-------------K | 451 |
| KCNA10 | ---------------------------L-->N<--SV-----GS-R-MG-------------S | 493 |
| KCNA2 | -------------------------DLK-K>S<--RS-----AS-T-IS-------------K | 455 |
| KCNA3 | -------------------------ELR-K>A<--RS-----NS-T-LS-------------K | 526 |
| KCNA4 | -------------------------KFR-S>S<--TS-----SS-L-GD-------------K | 608 |
| KCNA5 | -KVSG-SRGSFCKAGG------T--LEN-->A<--DS----ARR-G-SC-------------- | 581 |
| KCNA6 | --------------QP------A--PDL-->R<--AT-----DN-G-LG-------------- | 497 |
| KCNA7 | ----------------------G--PLE-->G<--KA-----NG-G-LV-------------- | 433 |
| KCNB1 | ---------------------------M-K>-<-DAF-----AR-S-IE-----MMD---IVV | 465 |
| KCNB2 | ---------------------------L-K>-<-DAF-----AR-S-ME-----LID---VAV | 469 |
| KCNC1 | ---------------------VNSPHHS-T>Q<--SD-----TC-P-LA-------------Q | 492 |
| KCNC2 | ---------------------LNMACNS-T>Q<--SD-----TC-L-GK-------------D | 529 |
| KCNC3 | YPAGPHTHPGLLRGGAGGLGIMGLPPLP-A>P<--GE-----PC-P-LA-------------Q | 650 |
| KCNC4 | ---------------------ETSPRDS-T>C<--SD-----TS-PPAR-------------E | 529 |
| KCND1 | ---------------------------F-L>Q<YKQN-----GG-L-ED-----SG--S-GEE | 463 |
| KCND2 | ---------------------------Y-M>Q<SKRN-----GL-L-SN-----QLQ-SSEDE | 463 |
| KCND3 | ---------------------------Y-L>H<SKRN-----GL-L-NE-----ALELTGTPE | 461 |
| KCNF1 | ---------------------------G-K>T<-GGS-----RS-D-LD-----NLP---PEP | 456 |
| KCNG1 | ---------------------------S-Q>-<---D-----SD-I-LFGSAS--SD---TRD | 511 |
| KCNG2 | ---------------------------T-E>-<---D-----SS-Q-GPDSAGLADD---SAD | 458 |
| KCNG3 | ---------------------------F-L>-<------------------------------ | 435 |
| KCNG4 | ---------------------------H-V>-<---A-----SE-H-EL-----MND---VND | 506 |
| KCNS1 | --------------------------GV-S>-<-EAS-----LE-T-SR-----ETS---QEG | 507 |
| KCNS2 | ---------------------------L-R>-<-DYY-----AH-K-VK-----SLM---ASL | 459 |
| KCNS3 | ---------------------------I-R>-<-DIY-----AQ-R-MH-----TFI---TSL | 455 |
| KCNV1 | ---------------------------L-R>-<-DVY-----AR-S-IM-----EML-----R | 481 |
| KCNV2 | --------------------------KI-A>-<-ECL-----LG-S-NP-----QLT---PRQ | 543 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.K398R | c.1193A>G | Inherited Arrhythmia | LQTS | rs199472777 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||