PDB ID 3B95     CHAIN A
Protein name Euchromatic histone-lysine N-methyltransferase 1
Uniprot Accession Q5VT56
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
3B95 (CHAIN: A)
1 Monomeric state

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
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
Allele
Frequency
(> 0.0001)
Disease name
772_SER TER ClinVar
chr9:140685325
rs886042018
Pathogenic - not provided [MedGen:CN517202]
778_PRO ARG ClinVar
chr9:140685343
-
Likely pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
808_GLY VAL ClinVar
chr9:140693275
rs1554888939
Likely pathogenic - Kleefstra syndrome 1 [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494]
811_CYS TYR ClinVar
chr9:140693284
-
Likely pathogenic - Kleefstra syndrome 1 [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494]
813_HIS TYR ClinVar
chr9:140693289
rs1953188177
Likely pathogenic - Kleefstra syndrome 1 [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494]
825_GLN TER ClinVar
chr9:140693325
rs1588770875
Pathogenic - Kleefstra syndrome 1 [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494]
842_GLY VAL ClinVar
chr9:140695342
-
Likely pathogenic - Kleefstra syndrome 1 [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494]
843_TRP TER ClinVar
chr9:140695346
rs1057524142
Pathogenic - not provided [MedGen:CN517202]
852_TYR TER ClinVar
chr9:140695373
rs1953425077
Pathogenic - Intellectual disability [Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756]
856_ASP ALA 8.3kJPN
chr9:140695384
-
- 0.0002 -
858_VAL MET 8.3kJPN
chr9:140695389
rs775400731
- 0.0001 -
868_ILE VAL gnomAD
chr9:140695419
rs144085805
- 0.000393901 -
871_ARG TER ClinVar
chr9:140695428
rs886041844
Pathogenic - not provided|Kleefstra syndrome 1 [MedGen:C3661900|MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494]
888_VAL MET 8.3kJPN
chr9:140705955
rs749976725
- 0.0001 -
890_ILE LEU 8.3kJPN
chr9:140705961
rs780048403
- 0.0001 -
892_GLU LYS gnomAD
chr9:140705967
rs367643028
- 0.000108265 -
920_ARG CYS 8.3kJPN
chr9:140706051
rs146451775
- 0.0001 -
925_VAL ILE 8.3kJPN
chr9:140706066
rs181347484
- 0.0001 -
946_GLN TER ClinVar
chr9:140707519
rs2137711618
Pathogenic - not provided [MedGen:C3661900]
953_GLN TER ClinVar
chr9:140707540
rs1085307843
Pathogenic - not provided [MedGen:CN517202]
955_TRP TER ClinVar
chr9:140707548
rs1554896104
Pathogenic - not provided [MedGen:CN517202]
959_GLN HIS gnomAD
chr9:140707560
rs143669310
- 0.000805699 -
959_GLN HIS 8.3kJPN
chr9:140707560
rs143669310
- 0.0167 -
(Powered by wupsivus)

Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.