| PDB ID | 4Z2M
|
CHAIN | B |
|---|---|---|---|
| Protein name | FACT complex subunit SPT16 | ||
| Uniprot Accession | Q9Y5B9 | ||
| The number of similar proteins | 5 | ||
| The number of binding states | 4 | ||
| The number of binding partners | 6 | ||
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 4Z2M (CHAIN: B) | |
| 1 |
P62805
P62805
P68431
P68431
|
| 2 | Monomeric state |
| 3 |
P0C1H3
P62805
P62805
P68431
P68431
P49736
|
| 4 |
P62805
P62805
P68431
P68431
P49736
P20671
Q16778
|
|
Only interaction residues |
|
||||||||||
|
|
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 654_ASN | SER |
8.3kJPN chr14:21829100 rs762249289 |
- | 0.0001 | 0.1165 | - | |
| 676_MET | VAL |
8.3kJPN chr14:21829035 - |
- | 0.0001 | 0.6125 | - | |
| 693_ARG | GLN |
ClinVar chr14:21828671 rs1886529007 |
Pathogenic | - | 0.9885 | not provided [MedGen:C3661900] | |
| 693_ARG | TER |
ClinVar chr14:21828672 rs2503025907 |
Likely pathogenic | - | - | Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum [MONDO:MONDO:0859179,MedGen:C5551361,OMIM:619480] | |
| 704_ILE | VAL |
8.3kJPN chr14:21828639 - |
- | 0.0001 | 0.1094 | - | |
| 734_ARG | TRP |
VAR_086188
rs2139399670 |
US | - | 0.9721 | Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum (NEDDFAC) [MIM:619480] | |
| 734_ARG | TRP |
ClinVar chr14:21827744 rs2139399670 |
Likely pathogenic | - | 0.9721 | Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum [MONDO:MONDO:0859179,MedGen:C5551361,OMIM:619480] | |
| 847_ARG | TRP |
ClinVar chr14:21825477 rs2139397506 |
Pathogenic | - | 0.9991 | Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum [MONDO:MONDO:0859179,MedGen:C5551361,OMIM:619480] | |
| 859_ILE | VAL |
8.3kJPN chr14:21825441 - |
- | 0.0002 | 0.1004 | - |