PDB ID 2IGQ     CHAIN A
Protein name euchromatic histone methyltransferase 1
Uniprot Accession Q9H9B1
The number of similar proteins 30
The number of binding states 2
The number of binding partners 1

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
2IGQ (CHAIN: A)
1 Q9H9B1  
2 Monomeric state

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Format:

Molecule viewer


Only interaction residues
#binding
partners
  1
  0

Sequence information

1   NSQVWSALQM   SKALQDSAPD   RPSPVERIVS   RDIARGYERI   PIPCVNAVDS   50
51   EPCPSNYKYV   SQNCVTSPMN   IDRNITHLQY   CVCIDDCSSS   NCMCGQLSMR   100
101   CWYDKDGRLL   PEFNMAEPPL   IFECNHACSC   WRNCRNRVVQ   NGLRARLQLY   150
151   RTRDMGWGVR   SLQDIPPGTF   VCEYVGELIS   DSEADVREED   SYLFDLDNKD   200
201   GEVYCIDARF   YGNVSRFINH   HCEPNLVPVR   VFMAHQDLRF   PRIAFFSTRL   250
251   IEAGEQLGFD   YGERFWDIKG   KLFSCRCGSP   KCRHS     300

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
979_VAL MET gnomAD
chr9:140707618 		rs200237137
- 0.000933692 -
985_ARG TER ClinVar
chr9:140707848 		rs1429360126
Pathogenic - Kleefstra syndrome 1|not provided|Inborn genetic diseases [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494|MedGen:C3661900|MeSH:D030342,MedGen:C0950123]
989_ARG HIS gnomAD
chr9:140707861 		rs376628665
- 0.000108881 -
1003_CYS ARG 8.3kJPN
chr9:140707902 		-
- 0.0001 -
1011_SER CYS 8.3kJPN
chr9:140707927 		rs1356860858
- 0.0001 -
1012_GLN TER ClinVar
chr9:140707929 		rs1064796996
Pathogenic - not provided [MedGen:CN517202]
1015_VAL MET 8.3kJPN
chr9:140707938 		-
- 0.0001 -
1042_CYS TYR ClinVar
chr9:140708920 		rs137852726
Pathogenic - Kleefstra syndrome 1 [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494]
1044_CYS TYR VAR_069183 -
LP/P - Kleefstra syndrome 1 (KLEFS1) [MIM:610253]
1046_GLN TER ClinVar
chr9:140708931 		rs137852725
Pathogenic - Kleefstra syndrome 1 [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494]
1049_MET THR ClinVar
chr9:140708941 		-
Likely pathogenic - Kleefstra syndrome 1 [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494]
1053_TYR TER ClinVar
chr9:140708954 		rs368087892
Likely pathogenic - Kleefstra syndrome 1 [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494]
1073_GLU LYS ClinVar
chr9:140710450 		rs886041093
Likely pathogenic - Kleefstra syndrome 1 [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494]
1073_GLU TER ClinVar
chr9:140710450 		rs886041093
Pathogenic - Kleefstra syndrome 1 [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494]
1074_CYS ARG ClinVar
chr9:140710453 		-
Likely pathogenic - Kleefstra syndrome 1 [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494]
1080_CYS SER ClinVar
chr9:140710472 		-
Pathogenic - Kleefstra syndrome 1 [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494]
1080_CYS SER ClinVar
chr9:140710471 		-
Pathogenic - Kleefstra syndrome 1 [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494]
1084_CYS GLY ClinVar
chr9:140710483 		rs1954891050
Likely pathogenic - Kleefstra syndrome 1 [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494]
1085_ARG TER ClinVar
chr9:140710486 		rs749848324
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
1088_VAL ILE 8.3kJPN
chr9:140710495 		rs139394414
- 0.0002 -
1100_TYR TER ClinVar
chr9:140711909 		rs2132792568
Pathogenic - Kleefstra syndrome 1 [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494]
1107_TRP TER ClinVar
chr9:140711929 		rs886037776
Pathogenic - Autism spectrum disorder [MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586,Orphanet:106]; Kleefstra syndrome 1 [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494]
1111_SER PHE 8.3kJPN
chr9:140711941 		-
- 0.0001 -
1118_GLY GLY ClinVar
chr9:140711963 		-
Likely pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
1130_SER TER ClinVar
chr9:140712532 		rs2132809199
Pathogenic - Kleefstra syndrome 1 [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494]
1132_SER TER ClinVar
chr9:140712538 		-
Likely pathogenic - EHMT1-related condition [-]
1137_ARG TER ClinVar
chr9:140712552 		rs121918301
Likely pathogenic - Kleefstra syndrome 1|not provided [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494|MedGen:CN517202]
1142_TYR PHE VAR_036346 -
US - A breast cancer sample
1162_GLY GLU ClinVar
chr9:140728838 		rs1956451830
Likely pathogenic - Kleefstra syndrome 1 [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494]
1166_ARG TRP ClinVar
chr9:140728849 		rs137852727
Likely pathogenic - Kleefstra syndrome 1 [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494]
1184_ALA VAL 8.3kJPN
chr9:140728904 		rs750256340
- 0.0001 -
1186_GLN TER ClinVar
chr9:140728909 		rs1554908411
Pathogenic - not provided [MedGen:CN517202]
1206_GLN TER ClinVar
chr9:140728969 		rs1325669112
Pathogenic - Kleefstra syndrome 1 [MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494]
1213_GLU ASP 8.3kJPN
chr9:140729240 		rs776780490
- 0.0006 -
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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.