Paralogue Annotation for KCNJ2 residue 72

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 72
Reference Amino Acid: I - Isoleucine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNJ2 residue 72

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNJ11	V59M	Diabetes, permanent neonatal	Medium	9	15115830, 16731837, 19065048, 19686306, 20595581, 22252471, 23462667, 23626843, 24855163, 21682153, 22145471, 24582665, 26839896
KCNJ11	V59A	Diabetes, neonatal	Medium	9	19139106, 23382304
KCNJ11	V59G	Diabetes, permanent neonatal	Medium	9	15115830, 16731837

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	RSRFVKKDGHCNVQFINVGEKGQ--RYLAD>I<FTTCVDIRWRWMLVIFCLAFVLSWLFFGCV	102
KCNJ1	RARLVSKDGRCNIEFGNVEA-QSRFIFFVD>I<WTTVLDLKWRYKMTIFITAFLGSWFFFGLL	98
KCNJ3	RQRFVDKNGRCNVQHGNLGSETS--RYLSD>L<FTTLVDLKWRWNLFIFILTYTVAWLFMASM	101
KCNJ4	RNRFVKKNGQCNVYFANLSNKSQ--RYMAD>I<FTTCVDTRWRYMLMIFSAAFLVSWLFFGLL	76
KCNJ5	RQRYMEKSGKCNVHHGNVQ-ETY--RYLSD>L<FTTLVDLKWRFNLLVFTMVYTVTWLFFGFI	107
KCNJ6	IQRYVRKDGKCNVHHGNVR-ETY--RYLTD>I<FTTLVDLKWRFNLLIFVMVYTVTWLFFGMI	110
KCNJ8	KARFIAKSGACNLAHKNIR-EQG--RFLQD>I<FTTLVDLKWRHTLVIFTMSFLCSWLLFAIM	90
KCNJ9	RQRYVEKDGRCNVQQGNVR-ETY--RYLTD>L<FTTLVDLQWRLSLLFFVLAYALTWLFFGAI	78
KCNJ10	RRRVLTKDGRSNVRMEHIADKRF--LYLKD>L<WTTFIDMQWRYKLLLFSATFAGTWFLFGVV	85
KCNJ11	RARFVSKKGNCNVAHKNIR-EQG--RFLQD>V<FTTLVDLKWPHTLLIFTMSFLCSWLLFAMA	89
KCNJ12	RNRFVKKNGQCNIEFANMDEKSQ--RYLAD>M<FTTCVDIRWRYMLLIFSLAFLASWLLFGII	101
KCNJ13	YRRMVTKDGHSTLQMDGAQR-GL--AYLRD>A<WGILMDMRWRWMMLVFSASFVVHWLVFAVL	74
KCNJ14	RGRFVKKDGHCNVRFVNLGGQGA--RYLSD>L<FTTCVDVRWRWMCLLFSCSFLASWLLFGLA	107
KCNJ15	RPRVMSKSGHSNVRIDKVDGIYL--LYLQD>L<WTTVIDMKWRYKLTLFAATFVMTWFLFGVI	84
KCNJ16	RRRLLHKDGSCNVYFKHIFGEWG--SYVVD>I<FTTLVDTKWRHMFVIFSLSYILSWLIFGSV	91
cons	> <

See full Alignment of Paralogues

Known Variants in KCNJ2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I72M	c.216C>G	Putative Benign			SIFT: Polyphen: