PDB ID 2JKR CHAIN S
Protein name AP-2 COMPLEX SUBUNIT SIGMA-1
Uniprot Accession P62743
The number of similar proteins 6
The number of binding states 4
The number of binding partners 4
Coloring
Unicolor (beige)
The number of binding partners
Group

Binding
state
Binding partners
Downdload
 Format:  
Molecule viewer
#binding
partners
  2
  1
  0
Sequence information
1   MIRFILIQNR   AGKTRLAKWY   MQFDDDEKQK   LIEEVHAVVT   VRDAKHTNFV   50
51   EFRNFKIIYR   RYAGLYFCIC   VDVNDNNLAY   LEAIHNFVEV   LNEYFHNVCE   100
101   LDLVFNFYKV   YTVVDEMFLA   GEIRETSQTK   VLKQLLMLQS   LE   150
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
15_ARG CYS ClinVar
chr19:47349360
rs397514498 Pathogenic Hypocalciuric hypercalcemia, familial, type III [MedGen:C1833372,OMIM:600740,Orphanet:ORPHA101050]
15_ARG LEU ClinVar
chr19:47349359
rs397514499 Pathogenic Hypocalciuric hypercalcemia, familial, type III [MedGen:C1833372,OMIM:600740,Orphanet:ORPHA101050]
15_ARG HIS ClinVar
chr19:47349359
rs397514499 Pathogenic Hypocalciuric hypercalcemia, familial, type III [MedGen:C1833372,OMIM:600740,Orphanet:ORPHA101050]; not provided [MedGen:CN517202]