Paralogue Annotation for KCNJ2 residue 54

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 54
Reference Amino Acid: C - Cysteine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNJ2 residue 54

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ1C49YBartter syndromeHigh9 10611379
KCNJ11C42RDiabetes mellitusHigh9 15784703

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.



KCNJ2AVANGF-GNGKSKVHTRQQCRSRFVKKDGH>C<NVQFINVGEKGQ--RYLADIFTTCVDIRWR82
KCNJ1-----W-VVT-R-FFGHSRQRARLVSKDGR>C<NIEFGNVEA-QSRFIFFVDIWTTVLDLKWR78
KCNJ3G--PGQ-D-PQQQLV-PKKKRQRFVDKNGR>C<NVQHGNLGSETS--RYLSDLFTTLVDLKWR81
KCNJ4--------NGQAHVP-RRKRRNRFVKKNGQ>C<NVYFANLSNKSQ--RYMADIFTTCVDTRWR56
KCNJ5V--PIATD-RTRLLAEGKKPRQRYMEKSGK>C<NVHHGNVQ-ETY--RYLSDLFTTLVDLKWR87
KCNJ6L--PRHIS-RDR----TKRKIQRYVRKDGK>C<NVHHGNVR-ETY--RYLTDIFTTLVDLKWR90
KCNJ8-----E-NLRKP-RIRDRLPKARFIAKSGA>C<NLAHKNIR-EQG--RFLQDIFTTLVDLKWR70
KCNJ9---------GQE-EPPRRRGRQRYVEKDGR>C<NVQQGNVR-ETY--RYLTDLFTTLVDLQWR58
KCNJ10---------R-P-LMGPGIRRRRVLTKDGR>S<NVRMEHIADKRF--LYLKDLWTTFIDMQWR65
KCNJ11-----E-DPAKP-RYRARQRRARFVSKKGN>C<NVAHKNIR-EQG--RFLQDVFTTLVDLKWP69
KCNJ12SGANGF-GNGK--VHTRRRCRNRFVKKNGQ>C<NIEFANMDEKSQ--RYLADMFTTCVDIRWR81
KCNJ13-----L-L---------SQRYRRMVTKDGH>S<TLQMDGAQR-GL--AYLRDAWGILMDMRWR54
KCNJ14GWAPAP-VQS----P-VGRRRGRFVKKDGH>C<NVRFVNLGGQGA--RYLSDLFTTCVDVRWR87
KCNJ15---------T-A-GAGLKANRPRVMSKSGH>S<NVRIDKVDGIYL--LYLQDLWTTVIDMKWR64
KCNJ16----GY-PPEH-IIAEKRRARRRLLHKDGS>C<NVYFKHIFGEWG--SYVVDIFTTLVDTKWR71
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.C54Fc.161G>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred. Hum Mol Genet. 2007 16(8):900-6. 17324964
Other Disease Phenotype Glucocorticoids may trigger attacks in several types of periodic paralysis. Neuromuscul Disord. 2009 19(3):217-9. 19201608
Inherited ArrhythmiaLQTS Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation. Europace. 2013 23867365