Paralogue Annotation for KCNJ2 residue 123

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 123
Reference Amino Acid: V - Valine
Protein Domain: Transmembrane region

Paralogue Variants mapped to KCNJ2 residue 123

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNJ1	V122E	Bartter syndrome	High	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	LDAS--------------------KEGKAC>V<SEVNSFTAAFLFSIETQTTIGYGFRCVTDE	153
KCNJ1	LPEF--HP---------------SANHTPC>V<ENINGLTSAFLFSLETQVTIGYGFRCVTEQ	152
KCNJ3	LNKA--HV----------------GNYTPC>V<ANVYNFPSAFLFFIETEATIGYGYRYITDK	154
KCNJ4	LEAS--PGVPAAGGPAAGGGGAAPVAPKPC>I<MHVNGFLGAFLFSVETQTTIGYGFRCVTEE	145
KCNJ5	LDHV--GD----------------QEWIPC>V<ENLSGFVSAFLFSIETETTIGYGFRVITEK	160
KCNJ6	MDHI--ED----------------PSWTPC>V<TNLNGFVSAFLFSIETETTIGYGYRVITDK	163
KCNJ8	IYAY--MEKS--G------MEKSGLESTVC>V<TNVRSFTSAFLFSIEVQVTIGFGGRMMTEE	151
KCNJ9	LEHL--ED----------------TAWTPC>V<NNLNGFVAAFLFSIETETTIGYGHRVITDQ	131
KCNJ10	LLEL--DP---------------PANHTPC>V<VQVHTLTGAFLFSLESQTTIGYGFRYISEE	139
KCNJ11	LAP----S-E------------GTA--EPC>V<TSIHSFSSAFLFSIEVQVTIGFGGRMVTEE	141
KCNJ12	LEPA--EG----------------RGRTPC>V<MQVHGFMAAFLFSIETQTTIGYGLRCVTEE	154
KCNJ13	LELDHDAP---------------PENHTIC>V<KYITSFTAAFSFSLETQLTIGYGTMFPSGD	130
KCNJ14	LAAP--P------------------PPAPC>F<SHVASFLAAFLFALETQTSIGYGVRSVTEE	158
KCNJ15	LEPG--EP---------------ISNHTPC>I<MKVDSLTGAFLFSLESQTTIGYGVRSITEE	138
KCNJ16	LLND--P------------------DITPC>V<DNVHSFTGAFLFSLETQTTIGYGYRCVTEE	142
cons	> <

See full Alignment of Paralogues

Known Variants in KCNJ2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V123G	c.368T>G	Inherited Arrhythmia	LQTS	rs199473375	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