PDB ID 1FGG CHAIN A
Protein name GLUCURONYLTRANSFERASE I
Uniprot Accession O94766
The number of similar proteins 6
The number of binding states 1
The number of binding partners 1
Coloring
Unicolor (beige)
The number of binding partners
Group

Binding
state
Binding partners
1FGG (CHAIN: A)
1 O94766  
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partners
  1
  0
Sequence information
1   MTIYVVTPTY   ARLVQKAELV   RLSQTLSLVP   RLHWLLVEDA   EGPTPLVSGL   50
51   LAASGLLFTH   LVVLTPKAQR   LREGEPGWVH   PRGVEQRNKA   LDWLRGRGGA   100
101   VGGEKDPPPP   GTQGVVYFAD   DDNTYSRELF   EEMRWTRGVS   VWPVGLVGGL   150
151   RFEGPQVQDG   RVVGFHTAWE   PSRPFPVDMA   GFAVALPLLL   DKPNAQFDST   200
201   APRGHLESSL   LSHLVDPKDL   EPRAANCTRV   LVWHTRTEKP   KMKQEEQLQR   250
251   QGRGSDPAIE   V         300
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
111_VAL MET ClinVar
chr11:62384746
rs1085307917 Likely pathogenic not provided [MedGen:CN517202]
140_PRO LEU ClinVar
chr11:62384658
rs879255269 Pathogenic MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS [na]
198_THR ILE ClinVar
chr11:62384484
rs753781915 Likely pathogenic not provided [MedGen:CN517202]
223_GLY SER ClinVar
chr11:62384220
rs372487178 Pathogenic MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS [na]
277_ARG GLN ClinVar
chr11:62384057
rs387906937 Pathogenic/Likely pathogenic MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS [na]; Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [MedGen:C3278404,OMIM:245600,Orphanet:ORPHA284139]; not provided [MedGen:CN517202]