Paralogue Annotation for KCNJ2 residue 179

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 179
Reference Amino Acid: V - Valine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 179

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11I167LDEND syndromeMedium9 17652641
KCNJ11I167FDiabetes, permanent neonatalMedium9 24468099

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.



KCNJ2CVTDECPIAVFMVVFQSIVGCIIDAFIIGA>V<MAKMAKPKKRNETLVFSHNAVIAMRDGKLC209
KCNJ1CVTEQCATAIFLLIFQSILGVIINSFMCGA>I<LAKISRPKKRAKTITFSKNAVISKRGGKLC208
KCNJ3YITDKCPEGIILFLFQSILGSIVDAFLIGC>M<FIKMSQPKKRAETLMFSEHAVISMRDGKLT210
KCNJ4CVTEECPLAVIAVVVQSIVGCVIDSFMIGT>I<MAKMARPKKRAQTLLFSHHAVISVRDGKLC201
KCNJ5VITEKCPEGIILLLVQAILGSIVNAFMVGC>M<FVKISQPKKRAETLMFSNNAVISMRDEKLC216
KCNJ6VITDKCPEGIILLLIQSVLGSIVNAFMVGC>M<FVKISQPKKRAETLVFSTHAVISMRDGKLC219
KCNJ8MMTEECPLAITVLILQNIVGLIINAVMLGC>I<FMKTAQAHRRAETLIFSRHAVIAVRNGKLC207
KCNJ9VITDQCPEGIVLLLLQAILGSMVNAFMVGC>M<FVKISQPNKRAATLVFSSHAVVSLRDGRLC187
KCNJ10YISEECPLAIVLLIAQLVLTTILEIFITGT>F<LAKIARPKKRAETIRFSQHAVVASHNGKPC195
KCNJ11MVTEECPLAILILIVQNIVGLMINAIMLGC>I<FMKTAQAHRRAETLIFSKHAVIALRHGRLC197
KCNJ12CVTEECPVAVFMVVAQSIVGCIIDSFMIGA>I<MAKMARPKKRAQTLLFSHNAVVALRDGKLC210
KCNJ13FPSGDCPSAIALLAIQMLLGLMLEAFITGA>F<VAKIARPKNRAFSIRFTDTAVVAHMDGKPN186
KCNJ14SVTEECPAAVAAVVLQCIAGCVLDAFVVGA>V<MAKMAKPKKRNETLVFSENAVVALRDHRLC214
KCNJ15SITEECPHAIFLLVAQLVITTLIEIFITGT>F<LAKIARPKKRAETIKFSHCAVITKQNGKLC194
KCNJ16CVTEECSVAVLMVILQSILSCIINTFIIGA>A<LAKMATARKRAQTIRFSYFALIGMRDGKLC198
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V179Ic.535G>A Putative BenignSIFT:
Polyphen: