Paralogue Annotation for KCNJ2 residue 130

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 130
Reference Amino Acid: T - Threonine
Protein Domain: Transmembrane region

Paralogue Variants mapped to KCNJ2 residue 130

No paralogue variants have been mapped to residue 130 for KCNJ2.

KCNJ2	-----------------KEGKACVSEVNSF>T<AAFLFSIETQTTIGYGFRCVTDECPIAVFM	160
KCNJ1	P---------------SANHTPCVENINGL>T<SAFLFSLETQVTIGYGFRCVTEQCATAIFL	159
KCNJ3	V----------------GNYTPCVANVYNF>P<SAFLFFIETEATIGYGYRYITDKCPEGIIL	161
KCNJ4	GVPAAGGPAAGGGGAAPVAPKPCIMHVNGF>L<GAFLFSVETQTTIGYGFRCVTEECPLAVIA	152
KCNJ5	D----------------QEWIPCVENLSGF>V<SAFLFSIETETTIGYGFRVITEKCPEGIIL	167
KCNJ6	D----------------PSWTPCVTNLNGF>V<SAFLFSIETETTIGYGYRVITDKCPEGIIL	170
KCNJ8	EKS--G------MEKSGLESTVCVTNVRSF>T<SAFLFSIEVQVTIGFGGRMMTEECPLAITV	158
KCNJ9	D----------------TAWTPCVNNLNGF>V<AAFLFSIETETTIGYGHRVITDQCPEGIVL	138
KCNJ10	P---------------PANHTPCVVQVHTL>T<GAFLFSLESQTTIGYGFRYISEECPLAIVL	146
KCNJ11	S-E------------GTA--EPCVTSIHSF>S<SAFLFSIEVQVTIGFGGRMVTEECPLAILI	148
KCNJ12	G----------------RGRTPCVMQVHGF>M<AAFLFSIETQTTIGYGLRCVTEECPVAVFM	161
KCNJ13	P---------------PENHTICVKYITSF>T<AAFSFSLETQLTIGYGTMFPSGDCPSAIAL	137
KCNJ14	------------------PPAPCFSHVASF>L<AAFLFALETQTSIGYGVRSVTEECPAAVAA	165
KCNJ15	P---------------ISNHTPCIMKVDSL>T<GAFLFSLESQTTIGYGVRSITEECPHAIFL	145
KCNJ16	------------------DITPCVDNVHSF>T<GAFLFSLETQTTIGYGYRCVTEECSVAVLM	149
cons	> <

See full Alignment of Paralogues

Known Variants in KCNJ2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T130M	c.389C>T	Putative Benign		rs151168735	SIFT: tolerated Polyphen: benign