Paralogue Annotation for KCNJ2 residue 76

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 76
Reference Amino Acid: C - Cysteine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNJ2 residue 76

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNJ1	V72E	Bartter syndrome	Medium	9	9002665

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	VKKDGHCNVQFINVGEKGQ--RYLADIFTT>C<VDIRWRWMLVIFCLAFVLSWLFFGCVFWLI	106
KCNJ1	VSKDGRCNIEFGNVEA-QSRFIFFVDIWTT>V<LDLKWRYKMTIFITAFLGSWFFFGLLWYAV	102
KCNJ3	VDKNGRCNVQHGNLGSETS--RYLSDLFTT>L<VDLKWRWNLFIFILTYTVAWLFMASMWWVI	105
KCNJ4	VKKNGQCNVYFANLSNKSQ--RYMADIFTT>C<VDTRWRYMLMIFSAAFLVSWLFFGLLFWCI	80
KCNJ5	MEKSGKCNVHHGNVQ-ETY--RYLSDLFTT>L<VDLKWRFNLLVFTMVYTVTWLFFGFIWWLI	111
KCNJ6	VRKDGKCNVHHGNVR-ETY--RYLTDIFTT>L<VDLKWRFNLLIFVMVYTVTWLFFGMIWWLI	114
KCNJ8	IAKSGACNLAHKNIR-EQG--RFLQDIFTT>L<VDLKWRHTLVIFTMSFLCSWLLFAIMWWLV	94
KCNJ9	VEKDGRCNVQQGNVR-ETY--RYLTDLFTT>L<VDLQWRLSLLFFVLAYALTWLFFGAIWWLI	82
KCNJ10	LTKDGRSNVRMEHIADKRF--LYLKDLWTT>F<IDMQWRYKLLLFSATFAGTWFLFGVVWYLV	89
KCNJ11	VSKKGNCNVAHKNIR-EQG--RFLQDVFTT>L<VDLKWPHTLLIFTMSFLCSWLLFAMAWWLI	93
KCNJ12	VKKNGQCNIEFANMDEKSQ--RYLADMFTT>C<VDIRWRYMLLIFSLAFLASWLLFGIIFWVI	105
KCNJ13	VTKDGHSTLQMDGAQR-GL--AYLRDAWGI>L<MDMRWRWMMLVFSASFVVHWLVFAVLWYVL	78
KCNJ14	VKKDGHCNVRFVNLGGQGA--RYLSDLFTT>C<VDVRWRWMCLLFSCSFLASWLLFGLAFWLI	111
KCNJ15	MSKSGHSNVRIDKVDGIYL--LYLQDLWTT>V<IDMKWRYKLTLFAATFVMTWFLFGVIYYAI	88
KCNJ16	LHKDGSCNVYFKHIFGEWG--SYVVDIFTT>L<VDTKWRHMFVIFSLSYILSWLIFGSVFWLI	95
cons	> <

See full Alignment of Paralogues

Known Variants in KCNJ2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Cys76Gly	c.226T>G	Unknown			SIFT: Polyphen: