PDB ID | 2XAF
|
CHAIN | A |
---|---|---|---|
Protein name | LYSINE-SPECIFIC HISTONE DEMETHYLASE 1 | ||
Uniprot Accession | O60341 | ||
The number of similar proteins | 41 | ||
The number of binding states | 4 | ||
The number of binding partners | 4 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
2XAF (CHAIN: A) | |
1 |
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2 |
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3 |
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4 |
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Only interaction residues |
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|
Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
---|---|---|---|---|---|---|---|
177_ALA | SER |
8.3kJPN chr1:23376891 rs765222197 |
- | 0.0001 | 0.5064 | - | |
254_SER | GLY |
8.3kJPN chr1:23381591 rs532200849 |
- | 0.0003 | 0.085 | - | |
315_GLY | TER |
ClinVar chr1:23383989 rs1553129293 |
Likely pathogenic | - | - | not provided [MedGen:CN517202] | |
332_MET | VAL |
8.3kJPN chr1:23384040 - |
- | 0.0001 | 0.9724 | - | |
344_VAL | LEU |
8.3kJPN chr1:23385583 - |
- | 0.0001 | 0.9096 | - | |
375_ASP | GLY |
ClinVar chr1:23395048 rs1553130904 |
Likely pathogenic | - | 0.9998 | not provided|Intellectual disability [MedGen:CN517202|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] | |
377_MET | LEU |
8.3kJPN chr1:23395053 - |
- | 0.0001 | 0.9005 | - | |
379_GLU | LYS |
VAR_076366
rs864309715 |
LP/P | - | 0.9998 | Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728] | |
379_GLU | LYS |
ClinVar chr1:23395059 rs864309715 |
Pathogenic | - | 0.9998 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome [MONDO:MONDO:0014751,MedGen:C4225229,OMIM:616728,Orphanet:477993] | |
379_GLU | ALA |
ClinVar chr1:23395060 rs2124508402 |
Likely pathogenic | - | 0.9985 | not provided [MedGen:C3661900] | |
451_LEU | TRP |
8.3kJPN chr1:23397728 rs769906942 |
- | 0.0002 | 0.631 | - | |
471_PRO | SER |
8.3kJPN chr1:23397787 - |
- | 0.0001 | 0.9285 | - | |
489_ALA | THR |
8.3kJPN chr1:23397841 rs758354898 |
- | 0.0001 | 0.1175 | - | |
520_TYR | CYS |
8.3kJPN chr1:23399793 - |
- | 0.0001 | 0.9997 | - | |
554_GLN | ARG |
ClinVar chr1:23399895 rs2124523419 |
Likely pathogenic | - | 0.9988 | Neurodevelopmental delay [Human Phenotype Ontology:HP:0012758,MedGen:C4022738] | |
555_ASP | GLY |
ClinVar chr1:23403722 rs2124538211 |
Likely pathogenic | - | 0.9998 | not provided [MedGen:C3661900] | |
555_ASP | VAL |
ClinVar chr1:23403722 rs2124538211 |
Likely pathogenic | - | 0.9999 | not provided [MedGen:C3661900] | |
556_ASP | GLY |
VAR_076367
rs864309716 |
LP/P | - | 0.9994 | Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728] | |
556_ASP | GLY |
ClinVar chr1:23403725 rs864309716 |
Pathogenic | - | 0.9994 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome [MONDO:MONDO:0014751,MedGen:C4225229,OMIM:616728,Orphanet:477993] | |
591_ARG | TER |
8.3kJPN chr1:23403829 - |
- | 0.0001 | - | - | |
610_THR | ARG |
8.3kJPN chr1:23405516 - |
- | 0.0001 | 0.8599 | - | |
761_TYR | HIS |
VAR_076368
rs864309714 |
LP/P | - | 1.0 | Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728] | |
761_TYR | HIS |
ClinVar chr1:23408767 rs864309714 |
Pathogenic | - | 1.0 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome [MONDO:MONDO:0014751,MedGen:C4225229,OMIM:616728,Orphanet:477993] | |
778_GLN | TER |
8.3kJPN chr1:23408818 - |
- | 0.0001 | - | - | |
781_THR | ASN |
8.3kJPN chr1:23408828 - |
- | 0.0002 | 0.3349 | - | |
785_SER | LEU |
8.3kJPN chr1:23408840 rs771287901 |
- | 0.0001 | 0.1319 | - |