Paralogue Annotation for KCNQ1 residue 593

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 593
Reference Amino Acid: N - Asparagine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 593

No paralogue variants have been mapped to residue 593 for KCNQ1.



KCNQ1--------------SEKSKDRGSNTIGARL>N<RVEDKVTQLDQRLALITDMLHQLLSLHGGS623
KCNQ2--------------PAEAELPEDPSMMGRL>G<KVEKQVLSMEKKLDFLVNIYMQRMGIPPTE654
KCNQ3PSQQSPRNEPYVARPSTSEI-EDQSMMGKF>V<KVERQVQDMGKKLDFLVDMHMQHMERLQVQ653
KCNQ4--------------PSDAEVVDEISMMGRV>V<KVEKQVQSIEHKLDLLLGFYSRCLRSGTSA650
KCNQ5--------------TAEHETTDDLSMLGRV>V<KVEKQVQSIESKLDCLLDIYQQVLRKGSAS637
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.N593Kc.1779C>G Other Cardiac PhenotypeSIFT:
Polyphen:
ReportsOther Cardiac Phenotype Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014 237:90-9. doi: 10.1016/j.forsciint.2014.01.014. 24631775