| PDB ID | 1AGR
|
CHAIN | A |
|---|---|---|---|
| Protein name | GUANINE NUCLEOTIDE-BINDING PROTEIN G(I) | ||
| Uniprot Accession | P10824 | ||
| The number of similar proteins | 57 | ||
| The number of binding states | 8 | ||
| The number of binding partners | 8 | ||
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 1AGR (CHAIN: A) | |
| 1 |
P49799
|
| 2 | Monomeric state |
| 3 |
B1H241
|
| 4 |
P62871
|
| 5 |
P10824
|
| 6 |
O43566
|
| 7 |
Q3V6T2
|
| 8 |
P62873
6CRK
P59768
|
|
Only interaction residues |
|
||||||||||||||||
|
|
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 21_ARG | HIS |
gnomAD chr1:110091404 rs758232853 |
- | 0.000390908 | - | - | |
| 40_GLY | ARG |
ClinVar chr1:110091460 rs387907178 |
Pathogenic | - | - | Auriculocondylar syndrome 1 [MONDO:MONDO:0011234,MedGen:C4551996,OMIM:602483,Orphanet:137888] | |
| 40_GLY | CYS |
ClinVar chr7:79764594 rs2116052322 |
Likely pathogenic | - | - | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities [MONDO:MONDO:0859243,MedGen:C5676975,OMIM:619854] | |
| 40_GLY | VAL |
ClinVar chr1:110116359 - |
Likely pathogenic | - | - | not provided [MedGen:C3661900] | |
| 40_GLY | ARG |
ClinVar chr7:79764594 - |
Pathogenic | - | - | not provided [MedGen:CN517202] | |
| 45_GLY | ASP |
ClinVar chr7:79818282 - |
Likely pathogenic | - | - | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities [MONDO:MONDO:0859243,MedGen:C5676975,OMIM:619854] | |
| 47_SER | ARG |
ClinVar chr1:110116381 rs397514768 |
Pathogenic | - | - | Auriculocondylar syndrome 1 [MONDO:MONDO:0011234,MedGen:C4551996,OMIM:602483,Orphanet:137888] | |
| 48_THR | LYS |
ClinVar chr7:79818291 rs1788434338 |
Likely pathogenic | - | - | Neurodevelopmental disorder|Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities [MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926|MONDO:MONDO:0859243,MedGen:C5676975,OMIM:619854] | |
| 48_THR | ASN |
ClinVar chr1:110116383 rs1648666311 |
Likely pathogenic | - | - | not provided [MedGen:C3661900] | |
| 48_THR | PRO |
ClinVar chr7:79818290 rs1788434297 |
Likely pathogenic | - | - | Seizure [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] | |
| 52_GLN | PRO |
ClinVar chr7:79818303 rs1788434582 |
Likely pathogenic | - | - | not provided [MedGen:CN517202] | |
| 67_ARG | TRP |
8.3kJPN chr3:50289866 rs782461705 |
- | 0.0001 | - | - | |
| 70_ARG | GLN |
8.3kJPN chr3:50289876 rs782573516 |
- | 0.0001 | - | - | |
| 90_ARG | TRP |
gnomAD chr1:110116624 rs145097404 |
- | 0.000216171 | - | - | |
| 90_ARG | GLN |
gnomAD chr1:110116625 rs138850957 |
- | 0.000228925 | - | - | |
| 90_ARG | TRP |
8.3kJPN chr1:110116624 rs145097404 |
- | 0.004 | - | - | |
| 94_ASP | ASN |
gnomAD chr3:50289947 rs183955200 |
- | 0.000271485 | - | - | |
| 94_ASP | GLU |
8.3kJPN chr1:110116638 - |
- | 0.0001 | - | - | |
| 96_ALA | SER |
8.3kJPN chr3:50289953 - |
- | 0.0001 | - | - | |
| 96_GLY | ASP |
8.3kJPN chr7:79818531 rs1283536547 |
- | 0.0003 | - | - | |
| 102_ASP | GLY |
8.3kJPN chr7:79828542 - |
- | 0.0001 | - | - | |
| 120_PRO | LEU |
8.3kJPN chr3:50290514 - |
- | 0.0001 | - | - | |
| 125_GLY | SER |
8.3kJPN chr3:50290528 rs782437262 |
- | 0.0001 | - | - | |
| 126_VAL | ILE |
gnomAD chr3:50290531 rs200441316 |
- | 0.000294539 | - | - | |
| 126_VAL | ILE |
8.3kJPN chr3:50290531 rs200441316 |
- | 0.0024 | - | - | |
| 127_ILE | THR |
gnomAD chr7:79828617 rs35545354 |
- | 0.00238226 | - | - | |
| 128_ARG | TRP |
8.3kJPN chr3:50290537 rs180852414 |
- | 0.0008 | - | - | |
| 155_TYR | ASN |
8.3kJPN chr3:50293625 - |
- | 0.0001 | - | - | |
| 156_LEU | GLN |
8.3kJPN chr3:50293629 - |
- | 0.0002 | - | - | |
| 165_PRO | ALA |
8.3kJPN chr7:79833051 rs745806214 |
- | 0.0001 | - | - | |
| 170_THR | ILE |
gnomAD chr1:110125106 rs61754626 |
- | 0.000262509 | - | - | |
| 170_THR | PRO |
8.3kJPN chr1:110125105 rs1205497380 |
- | 0.0001 | - | - | |
| 173_ASP | VAL |
ClinVar chr7:79833076 rs2115683966 |
Pathogenic | - | - | not provided [MedGen:C3661900] | |
| 178_ARG | HIS |
ClinVar chr3:50293695 rs137853227 |
Pathogenic | - | - | Adrenocortical tumor, somatic|Thecoma, somatic|Ovarian granulosa cell tumor [MedGen:C4016392|MedGen:C2750844|MONDO:MONDO:0023283,MedGen:C1370419] | |
| 178_ARG | GLY |
ClinVar chr3:50293694 rs137853226 |
Pathogenic | - | - | Pituitary dependent hypercortisolism [MONDO:MONDO:0009050,MedGen:C0221406,OMIM:219090,Orphanet:96253] | |
| 181_THR | PRO |
ClinVar chr3:50293703 - |
Likely pathogenic | - | - | 6 conditions [6 conditions] | |
| 199_PHE | LEU |
ClinVar chr3:50294161 rs137853228 |
Pathogenic | - | - | Ventricular tachycardia, somatic [MedGen:C4016143] | |
| 204_GLN | ARG |
ClinVar chr7:79840305 - |
Likely pathogenic | - | - | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities [MONDO:MONDO:0859243,MedGen:C5676975,OMIM:619854] | |
| 224_CYS | TYR |
ClinVar chr7:79840365 rs1788864590 |
Pathogenic | - | - | not provided|Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities [MedGen:C3661900|MONDO:MONDO:0859243,MedGen:C5676975,OMIM:619854] | |
| 264_ILE | VAL |
gnomAD chr1:110129420 rs61758986 |
- | 0.000111651 | - | - | |
| 270_LYS | ARG |
ClinVar chr7:79842120 rs2115712676 |
Pathogenic | - | - | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities [MONDO:MONDO:0859243,MedGen:C5676975,OMIM:619854] | |
| 272_ASP | ASN |
ClinVar chr7:79842125 rs2115712706 |
Likely pathogenic | - | - | not provided [MedGen:C3661900] | |
| 272_ASP | GLY |
ClinVar chr7:79842126 rs2115712712 |
Pathogenic | - | - | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities [MONDO:MONDO:0859243,MedGen:C5676975,OMIM:619854] | |
| 280_LYS | ARG |
8.3kJPN chr7:79842150 - |
- | 0.0001 | - | - | |
| 282_PRO | LEU |
8.3kJPN chr1:110129475 rs755438174 |
- | 0.0001 | - | - | |
| 294_ASN | LYS |
8.3kJPN chr3:50294939 rs587647183 |
- | 0.0001 | - | - | |
| 310_LEU | MET |
8.3kJPN chr3:50294985 rs1327376805 |
- | 0.0001 | - | - | |
| 312_LYS | THR |
8.3kJPN chr3:50294992 rs1553703449 |
- | 0.0002 | - | - | |
| 316_THR | SER |
gnomAD chr3:50295004 rs372568318 |
- | 0.000145346 | - | - | |
| 332_VAL | GLU |
ClinVar chr7:79846739 rs2115727431 |
Pathogenic | - | - | Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities [MONDO:MONDO:0859243,MedGen:C5676975,OMIM:619854] | |
| 346_ASN | LYS |
8.3kJPN chr7:79846782 - |
- | 0.0001 | - | - |