Paralogue Annotation for KCNQ1 residue 548

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 548
Reference Amino Acid: G - Glycine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 548

No paralogue variants have been mapped to residue 548 for KCNQ1.



KCNQ1----YFVAKKKFQQARKPYDVRDVIEQYSQ>G<HLNLMVRIKELQRRLDQSIGKPSLFIS---575
KCNQ2----FLVSKRKFKESLRPYDVMDVIEQYSA>G<HLDMLSRIKSLQSRVDQIVGRGPAITD--K602
KCNQ3----FRLYKKKFKETLRPYDVKDVIEQYSA>G<HLDMLSRIKYLQTRIDMIFTPGPPSTP--K581
KCNQ4----FLVAKRKFKETLRPYDVKDVIEQYSA>G<HLDMLGRIKSLQTRVDQIVGRGPGDRKARE598
KCNQ5----FHVAKRKFKETLRPYDVKDVIEQYSA>G<HLDMLCRIKSLQTRVDQILGKGQITSD-KK585
KCNA1----TD------------------------>-<------------------------------494
KCNA10----SR------------------------>-<------------------------------510
KCNA2----TD------------------------>-<------------------------------498
KCNA3----TD------------------------>-<------------------------------574
KCNA4----TD------------------------>-<------------------------------652
KCNA5TSRETD------------------------>-<------------------------------612
KCNA6----TE------------------------>-<------------------------------528
KCNA7----TE------------------------>-<------------------------------455
KCNB1----EG-------DPSPLLPVLGMYHDPLR>N<RGSAAAAVAGLECA----------------711
KCNB2----ENRGSAPQTPPSTARPLPVTTADFSL>T<TPQHISTILLEETP----------------761
KCNC1----LSTGEYACPPGGGMRK---------->D<LCKESP---VIAKY----------------576
KCNC2----LTTGDYTCASDGGIRKG----YEKSR>S<LNNIAGLAGNALRL----------------614
KCNC3----LT--DYAPSPDGSIRKATGAPPLPPQ>D<WRKPGPPS-FLPDL----------------747
KCNC4----LSTGDYACA-DGSVRKG----TFVLR>D<LPLQHSP---EAAC----------------624
KCND1----LDMLA--GLRRSHAPQSRSSLNAKPH>D<SLDLNCDSRDFVAA----------------597
KCND2----LSTIQIRCVERTPLSNSRSSLNAKME>E<CVKLNCEQPYVTTA----------------596
KCND3----LSTIHIQGSEQPSLTTSRSSLNLKAD>D<GLRPNCKTSQITTA----------------613
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.G548Dc.1643G>A Inherited ArrhythmiaLQTSrs199472799SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944
Inherited ArrhythmiaLQTS RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159
p.G548Sc.1642G>A Putative BenignSIFT:
Polyphen: