PDB ID | 2EKO | CHAIN | A |
---|---|---|---|
Protein name | Histone acetyltransferase HTATIP | ||
Uniprot Accession | Q92993 | ||
The number of similar proteins | 2 | ||
The number of binding states | 1 | ||
The number of binding partners | 0 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
2EKO (CHAIN: A) | |
1 | Monomeric state |
Only interaction residues |
|
||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
56_ARG | HIS | VAR_085192 |
rs1857071943
|
LP/P | - | Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB) [MIM:619103] | |
56_ARG | HIS |
ClinVar chr11:65480402 |
rs1857071943
|
Pathogenic | - | Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities [MONDO:MONDO:0030852,MedGen:C5436821,OMIM:619103] | |
81_PRO | THR | VAR_059456 |
rs11541271
|
LB/B | - | - |