Paralogue Annotation for KCNQ1 residue 598

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 598
Reference Amino Acid: K - Lysine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 598

No paralogue variants have been mapped to residue 598 for KCNQ1.



KCNQ1---------SEKSKDRGSNTIGARLNRVED>K<VTQLDQRLALITDMLHQLLSLHGGS-----623
KCNQ2---------PAEAELPEDPSMMGRLGKVEK>Q<VLSMEKKLDFLVNIYMQRMGIPPTE--TEA657
KCNQ3PRNEPYVARPSTSEI-EDQSMMGKFVKVER>Q<VQDMGKKLDFLVDMHMQHMERLQVQ--VTE656
KCNQ4---------PSDAEVVDEISMMGRVVKVEK>Q<VQSIEHKLDLLLGFYSRCLRSGTSA--SLG653
KCNQ5---------TAEHETTDDLSMLGRVVKVEK>Q<VQSIESKLDCLLDIYQQVLRKGSASALALA642
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.K598Rc.1793A>G Other Cardiac Phenotypers199472817SIFT: deleterious
Polyphen: probably damaging
ReportsOther Cardiac Phenotype Cardiac ion channel gene mutations in sudden infant death syndrome. Pediatr Res. 2008 64(5):482-7. 18596570
Other Cardiac Phenotype 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