Paralogue Annotation for KCNJ2 residue 33

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 33
Reference Amino Acid: G - Glycine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNJ2 residue 33

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNJ10	R18Q	Autism, seizures & intellectual disability	Low	2	21458570, 24794859

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNJ2.

KCNJ2	RYSIV--SSEEDGM--KLATMAVANGF-GN>G<KSKVHTRQQCRSRFVKKDGHCNVQFINVGE	63
KCNJ1	FDTLIRVLTESMFK--HLRK------W-VV>T<-R-FFGHSRQRARLVSKDGRCNIEFGNVEA	58
KCNJ3	QVVTT--SSSGS----GLQPQG--PGQ-D->P<QQQLV-PKKKRQRFVDKNGRCNVQHGNLGS	62
KCNJ4	-----------------------------N>G<QAHVP-RRKRRNRFVKKNGQCNVYFANLSN	37
KCNJ5	EIGVT--PWDPKKIPKQARDYV--PIATD->R<TRLLAEGKKPRQRYMEKSGKCNVHHGNVQ-	68
KCNJ6	ESPVA--IHQP-KLPKQARDDL--PRHIS->R<DR----TKRKIQRYVRKDGKCNVHHGNVR-	71
KCNJ8	EYVLA--RIAA---------------E-NL>R<KP-RIRDRLPKARFIAKSGACNLAHKNIR-	51
KCNJ9	AQENA--AFSP------------------->G<QE-EPPRRRGRQRYVEKDGRCNVQQGNVR-	39
KCNJ10	YYSQT--TQTES------------------>R<-P-LMGPGIRRRRVLTKDGRSNVRMEHIAD	46
KCNJ11	EYVLT--RLA----------------E-DP>A<KP-RYRARQRRARFVSKKGNCNVAHKNIR-	50
KCNJ12	PYSIV--SSEEDGL--HLVTMSGANGF-GN>G<K--VHTRRRCRNRFVKKNGQCNIEFANMDE	62
KCNJ13	-------MDSSNCK--VIAP------L-L->-<-------SQRYRRMVTKDGHSTLQMDGAQR	36
KCNJ14	DSRAG--DEEEAGP--GLCRNGWAPAP-VQ>S<----P-VGRRRGRFVKKDGHCNVRFVNLGG	68
KCNJ15	GMSST--PLVKH------------------>T<-A-GAGLKANRPRVMSKSGHSNVRIDKVDG	45
KCNJ16	SYHII--NADAKYP-----------GY-PP>E<H-IIAEKRRARRRLLHKDGSCNVYFKHIFG	52
cons	> <

See full Alignment of Paralogues

Known Variants in KCNJ2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G33R	c.97G>C	Putative Benign		rs375727662	SIFT: tolerated Polyphen: benign