Paralogue Annotation for KCNQ1 residue 484

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 484
Reference Amino Acid: S - Serine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 484

No paralogue variants have been mapped to residue 484 for KCNQ1.



KCNQ1-------PHFMRTN---------------->S<FAEDLDL-----------------------491
KCNQ2-----AASRQNSEE---------------->A<SLPGEDI-----------------------517
KCNQ3------YAFWQSSE---------------->D<AGTGDPM-----------------------496
KCNQ4--------PRTSAE---------------->D<A-PSEEV-----------------------511
KCNQ5-----QPKPVIDAD---------------->T<ALGTDDV-----------------------499
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1P-TRTEGVIDMRSMSSIDSFISCATDFPEA>T<RFSHSP---LTSLP------------SKTG617
KCNB2AVAQTEVIVDMKSTSSIDSFTSCATDFTET>E<RSPLPPPSASHLQMKFPTDLPGTEEHQRAR647
KCNC1------------------------------>-<CPHIDQA-----------------------525
KCNC2------------------------------>-<STGSEPP-----------------------551
KCNC3------------------------------>-<CPAIDQP-----------------------683
KCNC4------------------------------>-<GAGLTQP-----------------------561
KCND1-----TFSEALGAV---------------->S<PGGRT-S-----------------------513
KCND2-----VFEESCMEV---------------->A<TVNRPSS-----------------------514
KCND3-----MFEQNCMES---------------->S<MQNYPST-----------------------531
KCNF1------------------------------>-<------------------------------
KCNG1------------------------------>-<------------------------------
KCNG2------------------------------>-<------------------------------
KCNG3------------------------------>-<------------------------------
KCNG4------------------------------>-<------------------------------
KCNS1------------------------------>-<------------------------------
KCNS2------------------------------>-<------------------------------
KCNS3------------------------------>-<------------------------------
KCNV1------------------------------>-<------------------------------
KCNV2------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S484Tc.1451G>C Putative BenignSIFT: tolerated
Polyphen: probably damaging
ReportsPutative Benign Single nucleotide polymorphism map of five long-QT genes. J Mol Med (Berl). 2005 83(2):159-65. 15599693