No paralogue variants have been mapped to residue 381 for KCNQ1.
KCNQ1 | KVQQKQRQKHFNRQIPA--AASLI-QTAWR>C<Y---A-A-ENPD------S----------- | 389 |
KCNQ2 | KVQEQHRQKHFEKRRNP--AAGLI-QSAWR>F<Y---A-T-NLSRTD---LH----------- | 357 |
KCNQ3 | KVQEQHRQKHFEKRRKP--AAELI-QAAWR>Y<Y---A-T-NPNRID---LV----------- | 396 |
KCNQ4 | KVQEQHRQKHFEKRRMP--AANLI-QAAWR>L<Y---S-T-DMSRAY---LT----------- | 363 |
KCNQ5 | KVQEQHRQKHFEKRRNP--AANLI-QCVWR>S<Y---A-A-DE-KSV---SI----------- | 390 |
KCNA1 | FYHRETEGEEQAQLLH-----VS--SP-NL>A<S---D-S----------------------- | 439 |
KCNA10 | FYHRETENEEKQNIPGEIERI--------->-<------------------------------ | 483 |
KCNA2 | FYHRETEGEEQAQYLQ-----VT--SCPKI>P<S---S-P----------------------- | 442 |
KCNA3 | FYHRETEGEEQSQYMH-----VG--SCQHL>S<S-S-A-E----------------------- | 513 |
KCNA4 | FYHRETENEEQTQLTQ-----NAV-SCPYL>P<S-N-LLK----------------------- | 595 |
KCNA5 | FYHRETDHEEPAVLKEE--QGTQS-QGPGL>D<R-G-V-Q-R--------------------- | 554 |
KCNA6 | FYHRETEQEEQGQYTHV------------->T<C-G--------------------------- | 483 |
KCNA7 | FYHRETEGEEAGMFSHV------------->D<M-Q-P-C----------------------- | 421 |
KCNB1 | FYKEQKRQEKAIKRREA--LERA--KRNG->-<-SIVS-M-N--------------------- | 449 |
KCNB2 | FYKEQKRQEKAIKRREA--LERA--KRNG->-<-SIVS-M-N--------------------- | 453 |
KCNC1 | YYSLAMAKQKLPKKKKK--HIPR--PPQLG>S<P---N-YCK---S-----V----------- | 475 |
KCNC2 | YYSLAMAKQKLPRKRKK--HIPP--APQAS>S<P---T-FCK---T-----E----------- | 512 |
KCNC3 | YYSLAMAKQKLPKKKNK--HIPR--PPQPG>S<P---N-YCK---PDPPPPPPPHPHHGSGGI | 594 |
KCNC4 | YYSLAMAKQKLPKKRKK--HVPR--PAQLE>S<P---M-YCK---S-----E----------- | 511 |
KCND1 | IYHQNQRADKRRAQQKV--RLARIRLAKSG>T<T---N---A--------------------- | 445 |
KCND2 | IYHQNQRADKRRAQKKA--RLARIRAAKSG>S<A---N---A--------------------- | 443 |
KCND3 | IYHQNQRADKRRAQKKA--RLARIRVAKTG>S<S---N---A--------------------- | 440 |
KCNF1 | YYNKQRVLETAAKHELE--LMEL--N---->-<-SSSG-G-E--------------------- | 439 |
KCNG1 | SYLELKQEQERVMFRRA--QFLI----K-T>K<SQLSV------------------------- | 494 |
KCNG2 | SYSELKEQQQRAASPEP--ALQE----D-S>T<HSATA------------------------- | 439 |
KCNG3 | CYHELKFRSARYSR---------------->-<SLSTE------------------------- | 433 |
KCNG4 | SYLELKKEQEQLQARLR--HLQN----T-G>P<ASECE-LLD---P----------------- | 492 |
KCNS1 | FYRRQKALEAAVRNSNH--QEFE--D---->-<-LLSS-I-D--------------------- | 490 |
KCNS2 | FYRRQKQLESAMRSCDF--GDGM--K---->-<-EVPS-V-N--------------------- | 443 |
KCNS3 | YYQKQKDIDVDQCSEDA--PEKC--H---->-<-ELPY-F-N--------------------- | 439 |
KCNV1 | CYFTLKLKEAAVRQREA--LKKL--TKNIA>T<DSYIS-V-N--------------------- | 467 |
KCNV2 | YYSKLKAYEYTTIRRER--GEVN--F---->-<-MQRA-R-K--------------------- | 526 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.C381Y | c.1142G>A | Putative Benign | rs368507376 | SIFT: tolerated Polyphen: probably damaging |