PDB ID | 1EGW
|
CHAIN | A |
---|---|---|---|
Protein name | MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE A | ||
Uniprot Accession | Q02078 | ||
The number of similar proteins | 24 | ||
The number of binding states | 4 | ||
The number of binding partners | 4 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1EGW (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) |
Disease name | |
---|---|---|---|---|---|---|---|
3_ARG | SER |
ClinVar chr5:88119597 |
rs876661308
|
Pathogenic | - | Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [MedGen:C3150700,OMIM:613443,Orphanet:ORPHA228384] | |
10_ARG | PRO |
8.3kJPN chr19:19261516 |
rs767519545
|
- | 0.0001 | - | |
15_ARG | CYS |
ClinVar chr5:88119563 |
rs796052728
|
Pathogenic | - | not provided [MedGen:CN517202] | |
17_ARG | GLN |
8.3kJPN chr1:156453035 |
-
|
- | 0.0001 | - | |
20_THR | SER |
ClinVar chr5:88100615 |
rs1554139870
|
Likely pathogenic | - | Inborn genetic diseases [MeSH:D030342,MedGen:C0950123] | |
23_LYS | ARG |
ClinVar chr5:88100605 |
rs797045053
|
Likely pathogenic | - | Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [MedGen:C3150700,OMIM:613443,Orphanet:ORPHA228384] | |
24_ARG | LYS |
ClinVar chr5:88100602 |
rs869312698
|
Pathogenic | - | Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [MedGen:C3150700,OMIM:613443,Orphanet:ORPHA228384] | |
27_GLY | ALA |
ClinVar chr5:88100593 |
rs397514656
|
Pathogenic | - | Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [MedGen:C3150700,OMIM:613443,Orphanet:ORPHA228384] | |
29_MET | ILE |
8.3kJPN chr15:100185798 |
-
|
- | 0.0001 | - | |
33_TYR | CYS |
8.3kJPN chr19:19260195 |
rs766585953
|
- | 0.0001 | - | |
34_GLU | TER |
ClinVar chr5:88100573 |
rs1057520584
|
Pathogenic | - | not provided [MedGen:CN517202] | |
38_LEU | GLN |
ClinVar chr5:88100560 |
rs397514655
|
Pathogenic | - | Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [MedGen:C3150700,OMIM:613443,Orphanet:ORPHA228384] | |
38_LEU | PRO |
ClinVar chr5:88100560 |
rs397514655
|
Pathogenic | - | Inborn genetic diseases [MeSH:D030342,MedGen:C0950123] | |
60_THR | MET |
8.3kJPN chr19:19260114 |
rs757104393
|
- | 0.0001 | - | |
72_TYR | HIS |
8.3kJPN chr19:19260079 |
rs1319025703
|
- | 0.0001 | - |