Paralogue Annotation for KCNJ2 residue 187

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 187
Reference Amino Acid: K - Lysine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNJ2 residue 187

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNJ1	K186E	Bartter syndrome, antenatal	High	9	22245519

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	AVFMVVFQSIVGCIIDAFIIGAVMAKMAKP>K<KRNETLVFSHNAVIAMRDGKLCLMWRVGNL	217
KCNJ1	AIFLLIFQSILGVIINSFMCGAILAKISRP>K<KRAKTITFSKNAVISKRGGKLCLLIRVANL	216
KCNJ3	GIILFLFQSILGSIVDAFLIGCMFIKMSQP>K<KRAETLMFSEHAVISMRDGKLTLMFRVGNL	218
KCNJ4	AVIAVVVQSIVGCVIDSFMIGTIMAKMARP>K<KRAQTLLFSHHAVISVRDGKLCLMWRVGNL	209
KCNJ5	GIILLLVQAILGSIVNAFMVGCMFVKISQP>K<KRAETLMFSNNAVISMRDEKLCLMFRVGDL	224
KCNJ6	GIILLLIQSVLGSIVNAFMVGCMFVKISQP>K<KRAETLVFSTHAVISMRDGKLCLMFRVGDL	227
KCNJ8	AITVLILQNIVGLIINAVMLGCIFMKTAQA>H<RRAETLIFSRHAVIAVRNGKLCFMFRVGDL	215
KCNJ9	GIVLLLLQAILGSMVNAFMVGCMFVKISQP>N<KRAATLVFSSHAVVSLRDGRLCLMFRVGDL	195
KCNJ10	AIVLLIAQLVLTTILEIFITGTFLAKIARP>K<KRAETIRFSQHAVVASHNGKPCLMIRVANM	203
KCNJ11	AILILIVQNIVGLMINAIMLGCIFMKTAQA>H<RRAETLIFSKHAVIALRHGRLCFMLRVGDL	205
KCNJ12	AVFMVVAQSIVGCIIDSFMIGAIMAKMARP>K<KRAQTLLFSHNAVVALRDGKLCLMWRVGNL	218
KCNJ13	AIALLAIQMLLGLMLEAFITGAFVAKIARP>K<NRAFSIRFTDTAVVAHMDGKPNLIFQVANT	194
KCNJ14	AVAAVVLQCIAGCVLDAFVVGAVMAKMAKP>K<KRNETLVFSENAVVALRDHRLCLMWRVGNL	222
KCNJ15	AIFLLVAQLVITTLIEIFITGTFLAKIARP>K<KRAETIKFSHCAVITKQNGKLCLVIQVANM	202
KCNJ16	AVLMVILQSILSCIINTFIIGAALAKMATA>R<KRAQTIRFSYFALIGMRDGKLCLMWRIGDF	206
cons	> <

See full Alignment of Paralogues

Known Variants in KCNJ2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K187R	c.560A>G	Inherited Arrhythmia	LQTS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation. Europace. 2013 23867365