No paralogue variants have been mapped to residue 14 for KCNQ1.
| KCNQ1 | ---------------------P-PRAER-K>R<WGWGRL----PG------------------ | 22 |
| KCNQ2 | ---------------------M-------->-<VQKSR----NGG------------------ | 9 |
| KCNQ3 | ---------------------M-GLKAR-R>A<AGAAG----GGG------------------ | 16 |
| KCNQ4 | ---------------------M-------->-<----AEA-PPRR------------------ | 8 |
| KCNQ5 | ---------------------A-AGLWV-K>S<GAAAAAA-GGGR------------------ | 31 |
| KCNA1 | ---------------------MTVMSGE-->-<------N--V-D------------------ | 10 |
| KCNA10 | --------------FSNGKILISE-STN-->-<------H--E-T------------------ | 61 |
| KCNA2 | ---------------------MTVATGD-->-<------P--A-D------------------ | 10 |
| KCNA3 | --------------GRELPPDMTVVPGD-->-<------H--L-L------------------ | 62 |
| KCNA4 | SSFPHCSDLMPSGSEEKILRELSEEEED-->-<------E--E-EEEEEEEEGRFYYSEDDHG | 148 |
| KCNA5 | --------------ADSGVRPLPPLPDP-->-<------G--V-R------------------ | 76 |
| KCNA6 | ------------------------------>-<------------------------------ | |
| KCNA7 | ----------------------EP------>-<------R--C-P------------------ | 6 |
| KCNB1 | --------------------------PA-->-<------G----------------------- | 4 |
| KCNB2 | -------------------------APP-->-<------G----------------------- | 8 |
| KCNC1 | ------------------------------>-<------------------------------ | |
| KCNC2 | ------------------------------>-<------------------------------ | |
| KCNC3 | --------------GASKQQPAPPPQPPES>P<PPPPLPP--Q-Q------------------ | 40 |
| KCNC4 | --------------SGNKPPS--------->-<------------------------------ | 21 |
| KCND1 | -------------------------RAA-->-<------A--V-G------------------ | 18 |
| KCND2 | -------------------------RAA-->-<------A--I-G------------------ | 18 |
| KCND3 | -------------------------RAA-->-<------A--I-G------------------ | 18 |
| KCNF1 | --------------------------ER-->-<------S----------------------- | 8 |
| KCNG1 | --------------------------GD-->-<------NSDY-D------------------ | 12 |
| KCNG2 | ------------------------------>-<------------------------------ | |
| KCNG3 | ------------------------------>-<------------------------------ | |
| KCNG4 | --------------------------RD-->-<------GGLHPR------------------ | 13 |
| KCNS1 | --------------------------VR-->-<------G----------------------- | 8 |
| KCNS2 | --------------------------LW-->-<------D----------------------- | 8 |
| KCNS3 | --------------------------FF-->-<------------------------------ | 7 |
| KCNV1 | -------------------------GRA-->-<------L----------------------- | 8 |
| KCNV2 | ---------------------QASIHGW-->-<------T--E-G------------------ | 49 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R14C | c.40C>T | Inherited Arrhythmia | AF | rs199473444 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | AF | Stretch-sensitive KCNQ1 mutation A link between genetic and environmental factors in the pathogenesis of atrial fibrillation? J Am Coll Cardiol. 2007 49(5):578-86. 17276182 | ||