No paralogue variants have been mapped to residue 380 for KCNQ1.
| KCNQ1 | LKVQQKQRQKHFNRQIPA--AASLI-QTAW>R<CY---A-A-ENPD------S---------- | 389 |
| KCNQ2 | LKVQEQHRQKHFEKRRNP--AAGLI-QSAW>R<FY---A-T-NLSRTD---LH---------- | 357 |
| KCNQ3 | LKVQEQHRQKHFEKRRKP--AAELI-QAAW>R<YY---A-T-NPNRID---LV---------- | 396 |
| KCNQ4 | LKVQEQHRQKHFEKRRMP--AANLI-QAAW>R<LY---S-T-DMSRAY---LT---------- | 363 |
| KCNQ5 | LKVQEQHRQKHFEKRRNP--AANLI-QCVW>R<SY---A-A-DE-KSV---SI---------- | 390 |
| KCNA1 | YFYHRETEGEEQAQLLH-----VS--SP-N>L<AS---D-S---------------------- | 439 |
| KCNA10 | YFYHRETENEEKQNIPGEIERI-------->-<------------------------------ | 483 |
| KCNA2 | YFYHRETEGEEQAQYLQ-----VT--SCPK>I<PS---S-P---------------------- | 442 |
| KCNA3 | YFYHRETEGEEQSQYMH-----VG--SCQH>L<SS-S-A-E---------------------- | 513 |
| KCNA4 | YFYHRETENEEQTQLTQ-----NAV-SCPY>L<PS-N-LLK---------------------- | 595 |
| KCNA5 | YFYHRETDHEEPAVLKEE--QGTQS-QGPG>L<DR-G-V-Q-R-------------------- | 554 |
| KCNA6 | YFYHRETEQEEQGQYTHV------------>-<TC-G-------------------------- | 483 |
| KCNA7 | YFYHRETEGEEAGMFSHV------------>-<DM-Q-P-C---------------------- | 421 |
| KCNB1 | EFYKEQKRQEKAIKRREA--LERA--KRNG>-<--SIVS-M-N-------------------- | 449 |
| KCNB2 | EFYKEQKRQEKAIKRREA--LERA--KRNG>-<--SIVS-M-N-------------------- | 453 |
| KCNC1 | MYYSLAMAKQKLPKKKKK--HIPR--PPQL>G<SP---N-YCK---S-----V---------- | 475 |
| KCNC2 | MYYSLAMAKQKLPRKRKK--HIPP--APQA>S<SP---T-FCK---T-----E---------- | 512 |
| KCNC3 | MYYSLAMAKQKLPKKKNK--HIPR--PPQP>G<SP---N-YCK---PDPPPPPPPHPHHGSGG | 593 |
| KCNC4 | MYYSLAMAKQKLPKKRKK--HVPR--PAQL>E<SP---M-YCK---S-----E---------- | 511 |
| KCND1 | RIYHQNQRADKRRAQQKV--RLARIRLAKS>G<TT---N---A-------------------- | 445 |
| KCND2 | RIYHQNQRADKRRAQKKA--RLARIRAAKS>G<SA---N---A-------------------- | 443 |
| KCND3 | RIYHQNQRADKRRAQKKA--RLARIRVAKT>G<SS---N---A-------------------- | 440 |
| KCNF1 | RYYNKQRVLETAAKHELE--LMEL--N--->-<--SSSG-G-E-------------------- | 439 |
| KCNG1 | RSYLELKQEQERVMFRRA--QFLI----K->T<KSQLSV------------------------ | 494 |
| KCNG2 | RSYSELKEQQQRAASPEP--ALQE----D->S<THSATA------------------------ | 439 |
| KCNG3 | QCYHELKFRSARYSR--------------->-<-SLSTE------------------------ | 433 |
| KCNG4 | HSYLELKKEQEQLQARLR--HLQN----T->G<PASECE-LLD---P---------------- | 492 |
| KCNS1 | HFYRRQKALEAAVRNSNH--QEFE--D--->-<--LLSS-I-D-------------------- | 490 |
| KCNS2 | HFYRRQKQLESAMRSCDF--GDGM--K--->-<--EVPS-V-N-------------------- | 443 |
| KCNS3 | KYYQKQKDIDVDQCSEDA--PEKC--H--->-<--ELPY-F-N-------------------- | 439 |
| KCNV1 | ACYFTLKLKEAAVRQREA--LKKL--TKNI>A<TDSYIS-V-N-------------------- | 467 |
| KCNV2 | DYYSKLKAYEYTTIRRER--GEVN--F--->-<--MQRA-R-K-------------------- | 526 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R380G | c.1138A>G | Inherited Arrhythmia | LQTS | rs199472770 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Prevalence of the congenital long-QT syndrome. Circulation. 2009 120(18):1761-7. 19841298 | ||
| p.R380S | c.1140G>T | Inherited Arrhythmia | LQTS | rs199472771 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | ||
| 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 | Intracellular ATP binding is required to activate the slowly activating K+ channel I(Ks). Proc Natl Acad Sci U S A. 2013 110(47):18922-7. doi: 10.1073/pnas.1315649110. 24190995 | |||
| Inherited Arrhythmia | LQTS | Genotype-based clinical manifestation and treatment of Chinese long QT syndrome patients with KCNQ1 mutations - R380S and W305L. Cardiol Young. 2016 26(4):754-63. doi: 10.1017/S1047951115001304. 26344792 | |||