| PDB ID | 1EGW
|
CHAIN | A |
|---|---|---|---|
| Protein name | MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE A | ||
| Uniprot Accession | Q02078 | ||
| The number of similar proteins | 42 | ||
| The number of binding states | 5 | ||
| The number of binding partners | 5 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 1EGW (CHAIN: A) | |
| 1 |
Q02078
|
| 2 |
Q02078
Q09472
|
| 3 |
Q8CFN5
P34152
|
| 4 |
Q02078
P52952
|
| 5 |
Q02080
Q9Y6J0
|
Downdload
Molecule viewer
|
Only interaction residues |
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Sequence information
|
Variants
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 3_ARG | SER |
ClinVar chr5:88119597 rs876661308 |
Pathogenic | - | 1.0 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410] | |
| 5_LYS | TER |
ClinVar chr5:88119593 - |
Likely pathogenic | - | - | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410] | |
| 6_ILE | ASN |
ClinVar chr5:88119589 rs2153222922 |
Likely pathogenic | - | 1.0 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410] | |
| 7_GLN | TER |
ClinVar chr5:88119587 rs2532814429 |
Pathogenic | - | - | MEF2C Haploinsufficiency Syndrome [-] | |
| 8_ILE | LEU |
ClinVar chr5:88119584 rs2532813819 |
Likely pathogenic | - | 0.9973 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410] | |
| 10_ARG | PRO |
8.3kJPN chr19:19261516 rs767519545 |
- | 0.0001 | 0.9964 | - | |
| 15_ARG | CYS |
ClinVar chr5:88119563 rs796052728 |
Pathogenic/Likely pathogenic | - | 0.9996 | not provided|Autism spectrum disorder|Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language [MedGen:C3661900|MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586|MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410] | |
| 15_ARG | HIS |
ClinVar chr5:88119562 rs1202957297 |
Pathogenic/Likely pathogenic | - | - | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language|not provided|Inborn genetic diseases|Seizure [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology:HP:0002279,Human Phenotype Ontology:HP:0002306,Human Phenotype Ontology:HP:0002348,Human Phenotype Ontology:HP:0002391,Human Phenotype Ontology:HP:0002417,Human Phenotype Ontology:HP:0002430,Human Phenotype Ontology:HP:0002431,Human Phenotype Ontology:HP:0002432,Human Phenotype Ontology:HP:0002434,Human Phenotype Ontology:HP:0002437,Human Phenotype Ontology:HP:0002466,Human Phenotype Ontology:HP:0002479,Human Phenotype Ontology:HP:0002794,Human Phenotype Ontology:HP:0006997,Human Phenotype Ontology:HP:0010520,MedGen:C0036572] | |
| 15_ARG | PRO |
ClinVar chr5:88119562 rs1202957297 |
Pathogenic | - | 0.9995 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language|not provided [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410|MedGen:C3661900] | |
| 16_ASN | LYS |
ClinVar chr5:88119558 - |
Pathogenic | - | - | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410] | |
| 17_ARG | GLN |
8.3kJPN chr1:156453035 - |
- | 0.0001 | 0.9904 | - | |
| 20_THR | SER |
ClinVar chr5:88100615 rs1554139870 |
Likely pathogenic | - | 0.9985 | Inborn genetic diseases [MeSH:D030342,MedGen:C0950123] | |
| 20_THR | LYS |
ClinVar chr5:88100614 - |
Likely pathogenic | - | - | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410] | |
| 22_THR | ARG |
ClinVar chr5:88100608 rs1580990072 |
Likely pathogenic | - | 0.9913 | Epileptic encephalopathy [Human Phenotype Ontology:HP:0200134,MedGen:C0543888] | |
| 23_LYS | ARG |
ClinVar chr5:88100605 rs797045053 |
Likely pathogenic | - | 0.9837 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410] | |
| 24_ARG | LYS |
ClinVar chr5:88100602 rs869312698 |
Pathogenic/Likely pathogenic | - | 0.9982 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410] | |
| 27_GLY | ALA |
ClinVar chr5:88100593 rs397514656 |
Pathogenic | - | 0.9994 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410] | |
| 27_GLY | ARG |
ClinVar chr5:88100594 rs2531289348 |
Pathogenic | - | 1.0 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language|not provided [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410|MedGen:C3661900] | |
| 27_GLY | GLU |
ClinVar chr5:88100593 - |
Likely pathogenic | - | - | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410] | |
| 29_MET | ILE |
ClinVar chr5:88100586 - |
Likely pathogenic | - | 0.9998 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410] | |
| 29_MET | ILE |
8.3kJPN chr15:100185798 - |
- | 0.0001 | 0.9998 | - | |
| 30_LYS | THR |
ClinVar chr5:88100584 rs2531288616 |
Likely pathogenic | - | 0.9998 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410] | |
| 33_TYR | CYS |
8.3kJPN chr19:19260195 rs766585953 |
- | 0.0001 | 0.9991 | - | |
| 34_GLU | TER |
ClinVar chr5:88100573 rs1057520584 |
Pathogenic | - | - | not provided [MedGen:CN517202] | |
| 35_LEU | ARG |
ClinVar chr5:88100569 rs2153074771 |
Likely pathogenic | - | 0.9999 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410] | |
| 35_LEU | PRO |
ClinVar chr5:88100569 rs2153074771 |
Pathogenic/Likely pathogenic | - | 1.0 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410] | |
| 36_SER | GLY |
ClinVar chr5:88100567 rs2153074738 |
Likely pathogenic | - | 0.9767 | not provided [MedGen:C3661900] | |
| 36_SER | ARG |
ClinVar chr5:88100567 rs2153074738 |
Likely pathogenic | - | 0.9999 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410] | |
| 38_LEU | GLN |
ClinVar chr5:88100560 rs397514655 |
Pathogenic | - | 1.0 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410] | |
| 38_LEU | PRO |
ClinVar chr5:88100560 rs397514655 |
Pathogenic | - | 1.0 | Inborn genetic diseases|Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410] | |
| 45_LEU | PRO |
ClinVar chr5:88100539 rs2531283403 |
Likely pathogenic | - | 1.0 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410] | |
| 57_TYR | CYS |
ClinVar chr5:88100503 rs2153074319 |
Likely pathogenic | - | 1.0 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410] | |
| 59_SER | ARG |
ClinVar chr5:88100496 rs1554139743 |
Likely pathogenic | - | 1.0 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410] | |
| 60_THR | MET |
8.3kJPN chr19:19260114 rs757104393 |
- | 0.0001 | 0.9878 | - | |
| 65_VAL | GLY |
ClinVar chr5:88100479 rs1580988074 |
Likely pathogenic | - | 0.9973 | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410] | |
| 72_TYR | TER |
ClinVar chr5:88100457 rs2531278356 |
Likely pathogenic | - | - | Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language [MONDO:MONDO:0013266,MedGen:C3150700,OMIM:613443,Orphanet:228384,Orphanet:664410] | |
| 72_TYR | HIS |
8.3kJPN chr19:19260079 rs1319025703 |
- | 0.0001 | 0.9997 | - |