No paralogue variants have been mapped to residue 505 for KCNQ1.
KCNQ1 | -EGET----------------LLTPITHIS>Q<LREHHRATIKV----------------IRR | 519 |
KCNQ2 | -VDDK----------------SCPCEFVTE>D<LTPGLKVSIRA----------------VCV | 545 |
KCNQ3 | -AEDR----------------GYGNDFPIE>D<MIPTLKAAIRA----------------VRI | 524 |
KCNQ4 | -AEEK----------------SYQCELTVD>D<IMPAVKTVIRS----------------IRI | 539 |
KCNQ5 | -YDEK----------------GCQCDVSVE>D<LTPPLKTVIRA----------------IRI | 527 |
KCNA1 | -----------------------TAN---->C<TTAN--QNCVN----------------KSK | 490 |
KCNA10 | ------------------------------>-<----------G----------------CST | 506 |
KCNA2 | -----------------------TAN---->C<TLAN--TNYVN----------------ITK | 494 |
KCNA3 | -----------------------TAT---->C<TTNNNPNSCVN----------------IKK | 570 |
KCNA4 | -----------------------GDD---->S<ETDK--NNCSN----------------AKA | 648 |
KCNA5 | ------------------------------>-<---------------------------LRR | 598 |
KCNA6 | ------------------------------>-<P-----HRAYA----------------EKR | 524 |
KCNA7 | ------------------------------>-<------LWAPP----------------GKH | 451 |
KCNB1 | VEAN-------PSPDASQHSSFFIESPKSS>M<KTNNPLKLRAL----------------KVN | 675 |
KCNB2 | ITVNLDASGSQCGLHSPLQSDNATDSPKSS>L<KGSNPLKSRSL----------------KVN | 718 |
KCNC1 | ---------------------LTPDEGLPF>T<RSGTRERY--G----------------P-C | 546 |
KCNC2 | ---------------------LSPPERLPI>R<RSSTRDKNRRG----------------ETC | 575 |
KCNC3 | -A-------------------MSPEDKSPI>T<-PGSRGRYSRD----------------RAC | 707 |
KCNC4 | -LASS----------------PTPEERRAL>R<RSTTRDRNKKA----------------AAC | 589 |
KCND1 | -RSTS----------------VSSQPVGPG>S<LLSSCCPRRAKRRAIRLANSTASVS-RGSM | 556 |
KCND2 | -HSPS----------------LSSQQ---->G<VTSTCCSRRHKK-TFRIPNANVSGSHQGSI | 553 |
KCND3 | -RSPS----------------LSSHP---->G<LTTTCCSRRSKK-TTHLPNSNLPATRLRSM | 570 |
KCNF1 | ------------------------------>-<------------------------------ | |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | ------------------------------>-<------------------------------ | |
KCNS2 | ------------------------------>-<------------------------------ | |
KCNS3 | ------------------------------>-<------------------------------ | |
KCNV1 | ------------------------------>-<------------------------------ | |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q505R | c.1514A>G | Putative Benign | SIFT: Polyphen: |