PDB ID 1BG5 CHAIN A
Protein name FUSION PROTEIN OF ALPHA-NA,K-ATPASE WITH GLUTATHIONE S-TRANSFERASE
Uniprot Accession P08515
The number of similar proteins 26
The number of binding states 3
The number of binding partners 2
Coloring
Unicolor (beige)
The number of binding partners
Group

Binding
state
Binding partners
1BG5 (CHAIN: A)
1 P08515  
2 Monomeric state
3 P08515   Q9SKE2  
Downdload
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Molecule viewer
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partners
  2
  1
  0
Sequence information
1   MSPILGYWKI   KGLVQPTRLL   LEYLEEKYEE   HLYERDEGDK   WRNKKFELGL   50
51   EFPNLPYYID   GDVKLTQSMA   IIRYIADKHN   MLGGCPKERA   EISMLEGAVL   100
101   DIRYGVSRIA   YSKDFETLKV   DFLSKLPEML   KMFEDRLCHK   TYLNGDHVTH   150
151   PDFMLYDALD   VVLYMDPMCL   DAFPKLVCFK   KRIEAIPQID   KYLKSSKYIA   200
201   WPLQGWQATF   GGGDHPPKSD   LVPRGSSYYQ   EAKSSKIMES   FKNMVPQQAL   250
251   VNSS           300
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
227_SER PHE ClinVar
chr19:42490329
rs542652468 Pathogenic Abnormality of earlobe [Human Phenotype Ontology:HP:0000363,MedGen:C4021808]; Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]; Depressed nasal bridge [Human Phenotype Ontology:HP:0005280,MedGen:C1836542]; Epicanthus [Human Phenotype Ontology:HP:0000286,MedGen:C0678230,OMIM:131500]; Seizures [Human Phenotype Ontology:HP:0001250,MedGen:C0036572]; Ventriculomegaly [Human Phenotype Ontology:HP:0002119,MedGen:C3278923]
227_SER TYR ClinVar
chr19:42490329
rs542652468 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
230_GLN LEU ClinVar
chr19:42490320
rs606231427 Pathogenic Alternating hemiplegia of childhood 2 [MedGen:C3553788,OMIM:614820]
244_MET VAL ClinVar
chr19:42490279
rs1135401821 Likely pathogenic Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss [MedGen:C1832466,OMIM:601338,Orphanet:ORPHA1171]