Paralogue Annotation for KCNJ2 residue 173

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 173
Reference Amino Acid: A - Alanine
Protein Domain: Transmembrane region


Paralogue Variants mapped to KCNJ2 residue 173

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11A161VHyperinsulinismHigh9 23345197

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.



KCNJ2IGYGFRCVTDECPIAVFMVVFQSIVGCIID>A<FIIGAVMAKMAKPKKRNETLVFSHNAVIAM203
KCNJ1IGYGFRCVTEQCATAIFLLIFQSILGVIIN>S<FMCGAILAKISRPKKRAKTITFSKNAVISK202
KCNJ3IGYGYRYITDKCPEGIILFLFQSILGSIVD>A<FLIGCMFIKMSQPKKRAETLMFSEHAVISM204
KCNJ4IGYGFRCVTEECPLAVIAVVVQSIVGCVID>S<FMIGTIMAKMARPKKRAQTLLFSHHAVISV195
KCNJ5IGYGFRVITEKCPEGIILLLVQAILGSIVN>A<FMVGCMFVKISQPKKRAETLMFSNNAVISM210
KCNJ6IGYGYRVITDKCPEGIILLLIQSVLGSIVN>A<FMVGCMFVKISQPKKRAETLVFSTHAVISM213
KCNJ8IGFGGRMMTEECPLAITVLILQNIVGLIIN>A<VMLGCIFMKTAQAHRRAETLIFSRHAVIAV201
KCNJ9IGYGHRVITDQCPEGIVLLLLQAILGSMVN>A<FMVGCMFVKISQPNKRAATLVFSSHAVVSL181
KCNJ10IGYGFRYISEECPLAIVLLIAQLVLTTILE>I<FITGTFLAKIARPKKRAETIRFSQHAVVAS189
KCNJ11IGFGGRMVTEECPLAILILIVQNIVGLMIN>A<IMLGCIFMKTAQAHRRAETLIFSKHAVIAL191
KCNJ12IGYGLRCVTEECPVAVFMVVAQSIVGCIID>S<FMIGAIMAKMARPKKRAQTLLFSHNAVVAL204
KCNJ13IGYGTMFPSGDCPSAIALLAIQMLLGLMLE>A<FITGAFVAKIARPKNRAFSIRFTDTAVVAH180
KCNJ14IGYGVRSVTEECPAAVAAVVLQCIAGCVLD>A<FVVGAVMAKMAKPKKRNETLVFSENAVVAL208
KCNJ15IGYGVRSITEECPHAIFLLVAQLVITTLIE>I<FITGTFLAKIARPKKRAETIKFSHCAVITK188
KCNJ16IGYGYRCVTEECSVAVLMVILQSILSCIIN>T<FIIGAALAKMATARKRAQTIRFSYFALIGM192
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A173Tc.517G>A Putative BenignSIFT:
Polyphen: