Paralogue Annotation for KCNJ2 residue 74

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 74
Reference Amino Acid: T - Threonine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNJ2 residue 74

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNJ10	T57I	SeSAME syndrome	High	9	22907601

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	RFVKKDGHCNVQFINVGEKGQ--RYLADIF>T<TCVDIRWRWMLVIFCLAFVLSWLFFGCVFW	104
KCNJ1	RLVSKDGRCNIEFGNVEA-QSRFIFFVDIW>T<TVLDLKWRYKMTIFITAFLGSWFFFGLLWY	100
KCNJ3	RFVDKNGRCNVQHGNLGSETS--RYLSDLF>T<TLVDLKWRWNLFIFILTYTVAWLFMASMWW	103
KCNJ4	RFVKKNGQCNVYFANLSNKSQ--RYMADIF>T<TCVDTRWRYMLMIFSAAFLVSWLFFGLLFW	78
KCNJ5	RYMEKSGKCNVHHGNVQ-ETY--RYLSDLF>T<TLVDLKWRFNLLVFTMVYTVTWLFFGFIWW	109
KCNJ6	RYVRKDGKCNVHHGNVR-ETY--RYLTDIF>T<TLVDLKWRFNLLIFVMVYTVTWLFFGMIWW	112
KCNJ8	RFIAKSGACNLAHKNIR-EQG--RFLQDIF>T<TLVDLKWRHTLVIFTMSFLCSWLLFAIMWW	92
KCNJ9	RYVEKDGRCNVQQGNVR-ETY--RYLTDLF>T<TLVDLQWRLSLLFFVLAYALTWLFFGAIWW	80
KCNJ10	RVLTKDGRSNVRMEHIADKRF--LYLKDLW>T<TFIDMQWRYKLLLFSATFAGTWFLFGVVWY	87
KCNJ11	RFVSKKGNCNVAHKNIR-EQG--RFLQDVF>T<TLVDLKWPHTLLIFTMSFLCSWLLFAMAWW	91
KCNJ12	RFVKKNGQCNIEFANMDEKSQ--RYLADMF>T<TCVDIRWRYMLLIFSLAFLASWLLFGIIFW	103
KCNJ13	RMVTKDGHSTLQMDGAQR-GL--AYLRDAW>G<ILMDMRWRWMMLVFSASFVVHWLVFAVLWY	76
KCNJ14	RFVKKDGHCNVRFVNLGGQGA--RYLSDLF>T<TCVDVRWRWMCLLFSCSFLASWLLFGLAFW	109
KCNJ15	RVMSKSGHSNVRIDKVDGIYL--LYLQDLW>T<TVIDMKWRYKLTLFAATFVMTWFLFGVIYY	86
KCNJ16	RLLHKDGSCNVYFKHIFGEWG--SYVVDIF>T<TLVDTKWRHMFVIFSLSYILSWLIFGSVFW	93
cons	> <

See full Alignment of Paralogues

Known Variants in KCNJ2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T74A	c.220A>G	Inherited Arrhythmia	LQTS	rs199473652	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. Circulation. 2005 111(21):2720-6. 15911703
		Inherited Arrhythmia	LQTS	Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome. Hum Mutat. 2006 27(4):388. 16541386
		Inherited Arrhythmia	LQTS	Exaggerated Mg2+ inhibition of Kir2.1 as a consequence of reduced PIP2 sensitivity in Andersen syndrome. Channels (Austin). 2007 1(3):209-17. 18690034