No paralogue variants have been mapped to residue 525 for KCNQ1.
| KCNQ1 | ------------IRRMQ----------YFV>A<KKKFQQARKPYDVRDVIEQYSQGHLNLMVR | 555 |
| KCNQ2 | ------------VCVMR----------FLV>S<KRKFKESLRPYDVMDVIEQYSAGHLDMLSR | 581 |
| KCNQ3 | ------------VRILQ----------FRL>Y<KKKFKETLRPYDVKDVIEQYSAGHLDMLSR | 560 |
| KCNQ4 | ------------IRILK----------FLV>A<KRKFKETLRPYDVKDVIEQYSAGHLDMLGR | 575 |
| KCNQ5 | ------------IRIMK----------FHV>A<KRKFKETLRPYDVKDVIEQYSAGHLDMLCR | 563 |
| KCNA1 | ------------KSKLL----------TD->-<------------------------------ | 494 |
| KCNA10 | ------------CSTEK----------SR->-<------------------------------ | 510 |
| KCNA2 | ------------ITKML----------TD->-<------------------------------ | 498 |
| KCNA3 | ------------IKKIF----------TD->-<------------------------------ | 574 |
| KCNA4 | ------------AKAVE----------TD->-<------------------------------ | 652 |
| KCNA5 | ------------LRRSLYALCLDTSRETD->-<------------------------------ | 612 |
| KCNA6 | ------------EKRML----------TE->-<------------------------------ | 528 |
| KCNA7 | ------------GKHLV----------TE->-<------------------------------ | 455 |
| KCNB1 | ------------KVNFM----------EG->-<-----DPSPLLPVLGMYHDPLRNRGSAAAA | 704 |
| KCNB2 | ------------KVNFK----------ENR>G<SAPQTPPSTARPLPVTTADFSLTTPQHIST | 754 |
| KCNC1 | ------------P-CFL----------LST>G<EYACPPGGGMRK----------DLCKESP- | 571 |
| KCNC2 | ------------ETCFL----------LTT>G<DYTCASDGGIRKG----YEKSRSLNNIAGL | 607 |
| KCNC3 | ------------RACFL----------LT->-<DYAPSPDGSIRKATGAPPLPPQDWRKPGPP | 741 |
| KCNC4 | ------------AACFL----------LST>G<DYACA-DGSVRKG----TFVLRDLPLQHSP | 620 |
| KCND1 | RLANSTASVS-RGSMQE----------LDM>L<A--GLRRSHAPQSRSSLNAKPHDSLDLNCD | 590 |
| KCND2 | RIPNANVSGSHQGSIQE----------LST>I<QIRCVERTPLSNSRSSLNAKMEECVKLNCE | 589 |
| KCND3 | HLPNSNLPATRLRSMQE----------LST>I<HIQGSEQPSLTTSRSSLNLKADDGLRPNCK | 606 |
| KCNF1 | ------------------------------>-<------------------------------ | |
| KCNG1 | ------------------------------>-<------------------------------ | |
| KCNG2 | ------------------------------>-<------------------------------ | |
| KCNG3 | ------------------------------>-<------------------------------ | |
| KCNG4 | ------------------------------>-<------------------------------ | |
| KCNS1 | ------------------------------>-<------------------------------ | |
| KCNS2 | ------------------------------>-<------------------------------ | |
| KCNS3 | ------------------------------>-<------------------------------ | |
| KCNV1 | ------------------------------>-<------------------------------ | |
| KCNV2 | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A525T | c.1573G>A | Inherited Arrhythmia | LQTS | rs120074188 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | ||
| 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 | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Inherited Arrhythmia | LQTS | Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429 | |||
| Inherited Arrhythmia | LQTS | Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1. Biochem J. 2014 462(1):133-42. doi: 10.1042/BJ20140425. 24912595 | |||
| p.A525V | c.1574C>T | Inherited Arrhythmia | LQTS | rs199472791 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan. J Am Coll Cardiol. 2004 44(1):117-25. 15234419 | ||
| 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 | |||