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) |
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 | - |