Paralogue Annotation for KCNQ1 residue 586

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 586
Reference Amino Acid: N - Asparagine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 586

No paralogue variants have been mapped to residue 586 for KCNQ1.



KCNQ1---V-----------------SEKSKDRGS>N<TIGARLNRVEDKVTQLDQRLALITDMLHQL616
KCNQ2--KG-----------------PAEAELPED>P<SMMGRLGKVEKQVLSMEKKLDFLVNIYMQR647
KCNQ3KGSAFTFPSQQSPRNEPYVARPSTSEI-ED>Q<SMMGKFVKVERQVQDMGKKLDFLVDMHMQH646
KCNQ4--KG-----------------PSDAEVVDE>I<SMMGRVVKVEKQVQSIEHKLDLLLGFYSRC643
KCNQ5--KI-----------------TAEHETTDD>L<SMLGRVVKVEKQVQSIESKLDCLLDIYQQV630
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1------------------------------>-<------------------------------
KCNB2------------------------------>-<------------------------------
KCNC1------------------------------>-<------------------------------
KCNC2------------------------------>-<------------------------------
KCNC3------------------------------>-<------------------------------
KCNC4------------------------------>-<------------------------------
KCND1------------------------------>-<------------------------------
KCND2------------------------------>-<------------------------------
KCND3------------------------------>-<------------------------------
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.N586Dc.1756A>G Inherited ArrhythmiaLQTSSIFT: tolerated
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
p.N586Sc.1757A>G Inherited ArrhythmiaLQTSSIFT:
Polyphen: