| PDB ID | 3RO2
|
CHAIN | A |
|---|---|---|---|
| Protein name | G-protein-signaling modulator 2 | ||
| Uniprot Accession | Q8VDU0 | ||
| The number of similar proteins | 12 | ||
| The number of binding states | 6 | ||
| The number of binding partners | 6 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 3RO2 (CHAIN: A) | |
| 1 | Monomeric state |
| 2 |
Q9P202
|
| 3 |
Q5SYB0
|
| 4 |
Q14CM0
|
| 5 |
Q1MX18
|
| 6 |
P81274
P81274
Q14980
Q14980
|
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 | |
|---|---|---|---|---|---|---|---|
| 19_GLU | VAL |
8.3kJPN chr1:109439506 - |
- | 0.0001 | - | - | |
| 39_PHE | LEU |
ClinVar chr1:109439567 rs755804651 |
Pathogenic/Likely pathogenic | - | - | Deafness|Hearing loss, autosomal recessive [MedGen:C0011053|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636] | |
| 74_ALA | PRO |
8.3kJPN chr1:109439670 - |
- | 0.0001 | - | - | |
| 94_GLU | ASP |
8.3kJPN chr1:109440138 - |
- | 0.0002 | - | - | |
| 120_ARG | TER |
ClinVar chr1:109440214 rs267606854 |
Pathogenic | - | - | Chudley-McCullough syndrome|Hearing loss, autosomal recessive [MONDO:MONDO:0011411,MedGen:C1858695,OMIM:604213,Orphanet:314597|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636] | |
| 120_ARG | GLN |
gnomAD chr1:109440215 rs41279678 |
- | 0.0832305 | - | - | |
| 196_ARG | CYS |
8.3kJPN chr1:109441313 rs1380637881 |
- | 0.0001 | - | - | |
| 196_ARG | HIS |
8.3kJPN chr1:109441314 rs146446929 |
- | 0.0001 | - | - | |
| 226_LYS | GLU |
gnomAD chr1:109441516 rs142923222 |
- | 0.000183543 | - | - | |
| 244_ALA | THR |
8.3kJPN chr1:109441570 - |
- | 0.0002 | - | - | |
| 266_ARG | GLN |
8.3kJPN chr1:109444432 rs77121685 |
- | 0.0023 | - | - | |
| 271_ARG | TER |
ClinVar chr1:109444446 rs762285081 |
Pathogenic | - | - | Chudley-McCullough syndrome [MONDO:MONDO:0011411,MedGen:C1858695,OMIM:604213,Orphanet:314597] | |
| 271_ARG | GLN |
gnomAD chr1:109444447 rs190381417 |
- | 0.00170276 | - | - | |
| 275_ALA | SER |
8.3kJPN chr1:109444458 rs753366137 |
- | 0.0007 | - | - | |
| 311_ARG | TER |
ClinVar chr1:109444566 - |
Likely pathogenic | - | - | not provided [MedGen:CN517202] | |
| 319_TRP | TER |
ClinVar chr1:109445771 rs1060499797 |
Pathogenic | - | - | Hearing loss, autosomal recessive|Chudley-McCullough syndrome [MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636|MONDO:MONDO:0011411,MedGen:C1858695,OMIM:604213,Orphanet:314597] | |
| 333_GLN | GLU |
8.3kJPN chr1:109445812 rs1456625996 |
- | 0.0005 | - | - | |
| 334_ALA | THR |
gnomAD chr1:109445815 rs727505313 |
- | 0.000111469 | - | - |