No paralogue variants have been mapped to residue 385 for KCNQ1.
| KCNQ1 | HFNRQIPA--AASLI-QTAWRCY---A-A->E<NPD------S-------------------- | 389 |
| KCNQ2 | HFEKRRNP--AAGLI-QSAWRFY---A-T->N<LSRTD---LH-------------------- | 357 |
| KCNQ3 | HFEKRRKP--AAELI-QAAWRYY---A-T->N<PNRID---LV-------------------- | 396 |
| KCNQ4 | HFEKRRMP--AANLI-QAAWRLY---S-T->D<MSRAY---LT-------------------- | 363 |
| KCNQ5 | HFEKRRNP--AANLI-QCVWRSY---A-A->D<E-KSV---SI-------------------- | 390 |
| KCNA1 | EQAQLLH-----VS--SP-NLAS---D-S->-<------------------------------ | 439 |
| KCNA10 | EKQNIPGEIERI------------------>-<------------------------------ | 483 |
| KCNA2 | EQAQYLQ-----VT--SCPKIPS---S-P->-<------------------------------ | 442 |
| KCNA3 | EQSQYMH-----VG--SCQHLSS-S-A-E->-<------------------------------ | 513 |
| KCNA4 | EQTQLTQ-----NAV-SCPYLPS-N-LLK->-<------------------------------ | 595 |
| KCNA5 | EPAVLKEE--QGTQS-QGPGLDR-G-V-Q->R<------------------------------ | 554 |
| KCNA6 | EQGQYTHV-------------TC-G----->-<------------------------------ | 483 |
| KCNA7 | EAGMFSHV-------------DM-Q-P-C->-<------------------------------ | 421 |
| KCNB1 | KAIKRREA--LERA--KRNG---SIVS-M->N<------------------------------ | 449 |
| KCNB2 | KAIKRREA--LERA--KRNG---SIVS-M->N<------------------------------ | 453 |
| KCNC1 | KLPKKKKK--HIPR--PPQLGSP---N-YC>K<---S-----V-------------------- | 475 |
| KCNC2 | KLPRKRKK--HIPP--APQASSP---T-FC>K<---T-----E-------------------- | 512 |
| KCNC3 | KLPKKKNK--HIPR--PPQPGSP---N-YC>K<---PDPPPPPPPHPHHGSGGISPPPPITPP | 603 |
| KCNC4 | KLPKKRKK--HVPR--PAQLESP---M-YC>K<---S-----E-------------------- | 511 |
| KCND1 | KRRAQQKV--RLARIRLAKSGTT---N--->A<------------------------------ | 445 |
| KCND2 | KRRAQKKA--RLARIRAAKSGSA---N--->A<------------------------------ | 443 |
| KCND3 | KRRAQKKA--RLARIRVAKTGSS---N--->A<------------------------------ | 440 |
| KCNF1 | TAAKHELE--LMEL--N------SSSG-G->E<------------------------------ | 439 |
| KCNG1 | ERVMFRRA--QFLI----K-TKSQLSV--->-<------------------------------ | 494 |
| KCNG2 | QRAASPEP--ALQE----D-STHSATA--->-<------------------------------ | 439 |
| KCNG3 | ARYSR-----------------SLSTE--->-<------------------------------ | 433 |
| KCNG4 | EQLQARLR--HLQN----T-GPASECE-LL>D<---P-------------------------- | 492 |
| KCNS1 | AAVRNSNH--QEFE--D------LLSS-I->D<------------------------------ | 490 |
| KCNS2 | SAMRSCDF--GDGM--K------EVPS-V->N<------------------------------ | 443 |
| KCNS3 | VDQCSEDA--PEKC--H------ELPY-F->N<------------------------------ | 439 |
| KCNV1 | AAVRQREA--LKKL--TKNIATDSYIS-V->N<------------------------------ | 467 |
| KCNV2 | YTTIRRER--GEVN--F------MQRA-R->K<------------------------------ | 526 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.E385K | c.1153G>A | Inherited Arrhythmia | LQTS | rs199473473 | SIFT: deleterious Polyphen: possibly damaging |
| 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 | ||
| Inherited Arrhythmia | LQTS | End-recovery QTc: a useful metric for assessing genetic variants of unknown significance in long-QT syndrome. J Cardiovasc Electrophysiol. 2012 23(6):637-42. doi: 10.1111/j.1540-8167.2011.02265. 22429796 | |||