PDB ID 3B7B CHAIN A
Protein name Euchromatic histone-lysine N-methyltransferase 1
Uniprot Accession Q9H9B1
The number of similar proteins 2
The number of binding states 1
The number of binding partners 0
Coloring
Unicolor (beige)
The number of binding partners
Group

Binding
state
Binding partners
3B7B (CHAIN: A)
1 Monomeric state
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partners
  0
Sequence information
1   HMNFKMEHQN   KRSPLHAAAE   AGHVDICHML   VQAGANIDTC   SEDQRTPLME   50
51   AAENNHLEAV   KYLIKAGALV   DPKDAEGSTC   LHLAAKKGHY   EVVQYLLSNG   100
101   QMDVNCQDDG   GWTPMIWATE   YKHVDLVKLL   LSKGSDINIR   DNEENICLHW   150
151   AAFSGCVDIA   EILLAAKCDL   HAVNIHGDSP   LHIAARENRY   DCVVLFLSRD   200
201   SDVTLKNKEG   ETPLQCASLN   SQVWSALQMS   KALQDSA     250
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
772_SER TER ClinVar
chr9:140685325
rs886042018 Pathogenic not provided [MedGen:CN517202]
808_GLY VAL ClinVar
chr9:140693275
rs1554888939 Likely pathogenic Chromosome 9q deletion syndrome [MedGen:C0795833,OMIM:610253,Orphanet:ORPHA261494]
843_TRP TER ClinVar
chr9:140695346
rs1057524142 Pathogenic not provided [MedGen:CN517202]
871_ARG TER ClinVar
chr9:140695428
rs886041844 Pathogenic not provided [MedGen:CN517202]
953_GLN TER ClinVar
chr9:140707540
rs1085307843 Pathogenic not provided [MedGen:CN517202]
955_TRP TER ClinVar
chr9:140707548
rs1554896104 Pathogenic not provided [MedGen:CN517202]