Paralogue Annotation for KCNJ2 residue 78

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 78
Reference Amino Acid: D - Aspartate
Protein Domain: N-terminus

Paralogue Variants mapped to KCNJ2 residue 78

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNJ1	D74Y	Bartter syndrome	High	9	9002665, 10049979

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	KDGHCNVQFINVGEKGQ--RYLADIFTTCV>D<IRWRWMLVIFCLAFVLSWLFFGCVFWLIAL	108
KCNJ1	KDGRCNIEFGNVEA-QSRFIFFVDIWTTVL>D<LKWRYKMTIFITAFLGSWFFFGLLWYAVAY	104
KCNJ3	KNGRCNVQHGNLGSETS--RYLSDLFTTLV>D<LKWRWNLFIFILTYTVAWLFMASMWWVIAY	107
KCNJ4	KNGQCNVYFANLSNKSQ--RYMADIFTTCV>D<TRWRYMLMIFSAAFLVSWLFFGLLFWCIAF	82
KCNJ5	KSGKCNVHHGNVQ-ETY--RYLSDLFTTLV>D<LKWRFNLLVFTMVYTVTWLFFGFIWWLIAY	113
KCNJ6	KDGKCNVHHGNVR-ETY--RYLTDIFTTLV>D<LKWRFNLLIFVMVYTVTWLFFGMIWWLIAY	116
KCNJ8	KSGACNLAHKNIR-EQG--RFLQDIFTTLV>D<LKWRHTLVIFTMSFLCSWLLFAIMWWLVAF	96
KCNJ9	KDGRCNVQQGNVR-ETY--RYLTDLFTTLV>D<LQWRLSLLFFVLAYALTWLFFGAIWWLIAY	84
KCNJ10	KDGRSNVRMEHIADKRF--LYLKDLWTTFI>D<MQWRYKLLLFSATFAGTWFLFGVVWYLVAV	91
KCNJ11	KKGNCNVAHKNIR-EQG--RFLQDVFTTLV>D<LKWPHTLLIFTMSFLCSWLLFAMAWWLIAF	95
KCNJ12	KNGQCNIEFANMDEKSQ--RYLADMFTTCV>D<IRWRYMLLIFSLAFLASWLLFGIIFWVIAV	107
KCNJ13	KDGHSTLQMDGAQR-GL--AYLRDAWGILM>D<MRWRWMMLVFSASFVVHWLVFAVLWYVLAE	80
KCNJ14	KDGHCNVRFVNLGGQGA--RYLSDLFTTCV>D<VRWRWMCLLFSCSFLASWLLFGLAFWLIAS	113
KCNJ15	KSGHSNVRIDKVDGIYL--LYLQDLWTTVI>D<MKWRYKLTLFAATFVMTWFLFGVIYYAIAF	90
KCNJ16	KDGSCNVYFKHIFGEWG--SYVVDIFTTLV>D<TKWRHMFVIFSLSYILSWLIFGSVFWLIAF	97
cons	> <

See full Alignment of Paralogues

Known Variants in KCNJ2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D78G	c.233A>G	Inherited Arrhythmia	LQTS	rs199473371	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. Neurology. 2005 65(7):1083-9. 16217063
p.D78Y	c.232G>T	Inherited Arrhythmia	LQTS	rs199473372	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype. Am J Med Genet A. 2006 140(4):312-21. 16419128
Reports		Inherited Arrhythmia	LQTS	Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome. Cardiovasc Res. 2007 75(4):748-57. 17568571