Paralogue Annotation for KCNQ1 residue 670

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 670
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 670

No paralogue variants have been mapped to residue 670 for KCNQ1.



KCNQ1------PELFLPS----NTLPTYEQLTVPR>R<GP-DEGS-----------------------676
KCNQ2SIPSVDHEELERSFSGFSISQSKENLDALN>S<CY-AAVAPCAK---------VRPYIAEGES839
KCNQ3SLMSVNHEELERSPSGFSISQDRDDYVFGP>N<GG-SS---WMR---------EKRYLAEGET838
KCNQ4------------------------------>-<------------------------------
KCNQ5SVCPMVPKDLGKSLSVQNLIRSTEELNIQL>S<GS-ESSGSRGSQDFYPKWRESKLFITDEEV876
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1PKFSTG--TRSEKNHFESSPLPTSPKFLRQ>N<CIYSTEAL-TGKGPSGQEKC-----KL---833
KCNB2DKPSDGRDPLREEGSVGSSSPQDTGHNCRQ>D<I-YHAVSE-VKKD-SSQEGC-----KM---885
KCNC1-----------------------------P>T<EA-VRV------------------------584
KCNC2-----------------------------P>V<TS-PYNSP----------------------624
KCNC3-----------------------------A>N<AA-AWIS-----------------------756
KCNC4-----------------------------P>T<AG-TLFLP----------------------634
KCND1PDESQPSSPGGGGRAGSTLRNSSLGTPCLF>P<ET-VKISS----------------------646
KCND2PE--------GDDRPE--SP------EYSG>G<NI-VRVSA----------------------629
KCND3PE--------GESRPPPASPGPNTNIPSIA>S<NV-VKVSA----------------------654
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.R670Kc.2009G>A Inherited ArrhythmiaAFSIFT:
Polyphen:
ReportsInherited ArrhythmiaAF Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation. Heart Rhythm. 2014 11(2):246-51. doi: 10.1016/j.hrthm.2013.10.034. 24144883
Inherited ArrhythmiaAF IKs Gain- and Loss-of-Function in Early-Onset Lone Atrial Fibrillation. J Cardiovasc Electrophysiol. 2015 26(7):715-23. doi: 10.1111/jce.12666. 25786344