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 |
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 |
Only interaction residues |
|
||||||||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
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 | - |