PDB ID | 1GG2
|
CHAIN | B |
---|---|---|---|
Protein name | G PROTEIN GI BETA 1 | ||
Uniprot Accession | P62871 | ||
The number of similar proteins | 42 | ||
The number of binding states | 9 | ||
The number of binding partners | 9 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1GG2 (CHAIN: B) | |
1 |
![]() ![]() |
2 |
![]() |
3 |
![]() ![]() |
4 |
![]() ![]() |
5 |
![]() ![]() |
6 |
![]() ![]() ![]() |
7 |
![]() ![]() ![]() |
8 |
![]() ![]() ![]() |
9 |
![]() ![]() ![]() ![]() |
Only interaction residues |
|
||||||||||||||||
![]() ![]() ![]() |
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
3_GLU | LYS |
8.3kJPN chr3:179143982 |
rs955229785
|
- | 0.0001 | - | |
8_ARG | HIS |
8.3kJPN chr12:6950474 |
rs199531660
|
- | 0.0004 | - | |
11_ALA | VAL |
8.3kJPN chr12:6950483 |
rs782550076
|
- | 0.0001 | - | |
19_ARG | GLN |
8.3kJPN chr7:100273944 |
-
|
- | 0.0001 | - | |
21_ALA | VAL |
8.3kJPN chr7:100274162 |
-
|
- | 0.0001 | - | |
22_ARG | GLN |
8.3kJPN chr3:179138708 |
rs1318528118
|
- | 0.0001 | - | |
24_ALA | VAL |
8.3kJPN chr12:6950763 |
-
|
- | 0.0001 | - | |
29_THR | ALA |
8.3kJPN chr1:1749287 |
rs758197716
|
- | 0.0001 | - | |
29_THR | MET |
8.3kJPN chr3:179138687 |
rs762114369
|
- | 0.0002 | - | |
30_LEU | VAL |
8.3kJPN chr12:6950780 |
rs1429928202
|
- | 0.0001 | - | |
31_THR | SER |
8.3kJPN chr7:100274192 |
-
|
- | 0.0002 | - | |
37_ILE | MET |
gnomAD chr1:1747287 |
rs754777749
|
- | 0.000151198 | - | |
43_ILE | MET |
8.3kJPN chr3:179137261 |
rs1187523844
|
- | 0.0002 | - | |
47_THR | MET |
gnomAD chr12:6952177 |
rs116400596
|
- | 0.000141787 | - | |
47_THR | MET |
8.3kJPN chr12:6952177 |
rs116400596
|
- | 0.0001 | - | |
49_ARG | GLN |
8.3kJPN chr12:6952183 |
rs782393502
|
- | 0.0001 | - | |
53_GLY | ASP |
ClinVar chr3:179137232 |
rs387907340
|
Pathogenic | - | Charcot-Marie-Tooth disease, dominant intermediate F [MedGen:C3554654,OMIM:615185,Orphanet:ORPHA352670] | |
57_LYS | GLU |
8.3kJPN chr1:1747229 |
rs141326438
|
- | 0.0002 | - | |
59_TYR | ASP |
8.3kJPN chr12:6952212 |
-
|
- | 0.0001 | - | |
60_ALA | THR |
8.3kJPN chr12:6952215 |
rs782554195
|
- | 0.0001 | - | |
63_TRP | CYS |
8.3kJPN chr7:100274408 |
-
|
- | 0.0001 | - | |
66_ASP | HIS |
8.3kJPN chr7:100274415 |
-
|
- | 0.0001 | - | |
67_SER | PHE |
ClinVar chr12:6952237 |
rs140263599
|
Pathogenic | - | Night blindness, congenital stationary, type 1h [MedGen:C4310758,OMIM:617024] | |
76_ASP | GLU |
ClinVar chr1:1737953 |
rs869312822
|
Pathogenic | - | Failure to thrive [Human Phenotype Ontology:HP:0001508,MedGen:C2315100]; Focal seizures with impairment of consciousness or awareness [Human Phenotype Ontology:HP:0002384,MedGen:C0270834]; Global developmental delay [Human Phenotype Ontology:HP:0001263,MedGen:C0557874]; Limb hypertonia [Human Phenotype Ontology:HP:0002509,MedGen:C1838391]; Seizures [Human Phenotype Ontology:HP:0001250,MedGen:C0036572]; Strabismus [Human Phenotype Ontology:HP:0000486,MedGen:C0038379] | |
76_ASP | GLY |
ClinVar chr1:1737954 |
rs869312821
|
Pathogenic | - | Acute lymphoid leukemia [MedGen:C0023449,OMIM:613065,Orphanet:ORPHA513,SNOMED CT:91857003]; Global developmental delay [Human Phenotype Ontology:HP:0001263,MedGen:C0557874]; Infantile muscular hypotonia [Human Phenotype Ontology:HP:0008947,MedGen:C1860834]; Intellectual disability [Human Phenotype Ontology:HP:0001249,MedGen:C1843367]; Mental retardation, autosomal dominant 42 [MedGen:C4310774,OMIM:616973]; Muscular hypotonia [Human Phenotype Ontology:HP:0001252,MedGen:C0026827] | |
76_ASP | TYR |
8.3kJPN chr12:6952360 |
rs2234756
|
- | 0.0094 | - | |
77_GLY | SER |
ClinVar chr1:1737952 |
rs758432471
|
Likely pathogenic | - | Global developmental delay [Human Phenotype Ontology:HP:0001263,MedGen:C0557874]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; Muscular hypotonia [Human Phenotype Ontology:HP:0001252,MedGen:C0026827] | |
77_GLY | ALA |
ClinVar chr1:1737951 |
rs1135401746
|
Likely pathogenic | - | Mental retardation, autosomal dominant 42 [MedGen:C4310774,OMIM:616973] | |
78_LYS | ARG |
ClinVar chr1:1737948 |
rs869312823
|
Pathogenic | - | EEG with generalized epileptiform discharges [Human Phenotype Ontology:HP:0011198,MedGen:C4023476]; Feeding difficulties [Human Phenotype Ontology:HP:0011968,MedGen:C0232466]; Global developmental delay [Human Phenotype Ontology:HP:0001263,MedGen:C0557874]; Growth delay [Human Phenotype Ontology:HP:0001510,MedGen:C0456070]; Infantile muscular hypotonia [Human Phenotype Ontology:HP:0008947,MedGen:C1860834]; Mental retardation, autosomal dominant 42 [MedGen:C4310774,OMIM:616973]; Muscular hypotonia [Human Phenotype Ontology:HP:0001252,MedGen:C0026827]; Seizures [Human Phenotype Ontology:HP:0001250,MedGen:C0036572]; Strabismus [Human Phenotype Ontology:HP:0000486,MedGen:C0038379]; not provided [MedGen:CN517202] | |
80_ILE | THR |
ClinVar chr1:1737942 |
rs752746786
|
Pathogenic | - | Cleft palate [Human Phenotype Ontology:HP:0000175,MedGen:C0008925,Orphanet:ORPHA2014]; Developmental regression [Human Phenotype Ontology:HP:0002376,MedGen:C1836830]; Dystonia [Human Phenotype Ontology:HP:0001332,MedGen:C0013421]; EEG with generalized epileptiform discharges [Human Phenotype Ontology:HP:0011198,MedGen:C4023476]; Expressive language delay [Human Phenotype Ontology:HP:0002474,MedGen:C0454641]; Failure to thrive [Human Phenotype Ontology:HP:0001508,MedGen:C2315100]; Global developmental delay [Human Phenotype Ontology:HP:0001263,MedGen:C0557874]; Growth delay [Human Phenotype Ontology:HP:0001510,MedGen:C0456070]; Growth delay [Human Phenotype Ontology:HP:0001510,MedGen:C0456070]; Hypothyroidism [Human Phenotype Ontology:HP:0000821,MedGen:C0020676,Orphanet:ORPHA181396]; Inability to walk [Human Phenotype Ontology:HP:0002540,MedGen:C0560046]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; Infantile axial hypotonia [Human Phenotype Ontology:HP:0009062,MedGen:C3806604]; Intellectual disability [Human Phenotype Ontology:HP:0001249,MedGen:C1843367]; Limb hypertonia [Human Phenotype Ontology:HP:0002509,MedGen:C1838391]; Mental retardation, autosomal dominant 42 [MedGen:C4310774,OMIM:616973]; Multifocal epileptiform discharges [Human Phenotype Ontology:HP:0010841,MedGen:C4021219]; Muscular hypotonia [Human Phenotype Ontology:HP:0001252,MedGen:C0026827]; Myelodysplastic syndrome [MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688]; Nystagmus [Human Phenotype Ontology:HP:0000639,MedGen:C0028738]; Seizures [Human Phenotype Ontology:HP:0001250,MedGen:C0036572]; Strabismus [Human Phenotype Ontology:HP:0000486,MedGen:C0038379]; Upper limb hypertonia [Human Phenotype Ontology:HP:0200049,MedGen:C4021898]; not provided [MedGen:CN517202] | |
80_ILE | ASN |
ClinVar chr1:1737942 |
rs752746786
|
Pathogenic | - | Acute lymphoid leukemia [MedGen:C0023449,OMIM:613065,Orphanet:ORPHA513,SNOMED CT:91857003]; Cortical visual impairment [Human Phenotype Ontology:HP:0100704,MedGen:C4048268]; Failure to thrive [Human Phenotype Ontology:HP:0001508,MedGen:C2315100]; Feeding difficulties [Human Phenotype Ontology:HP:0011968,MedGen:C0232466]; Focal seizures with impairment of consciousness or awareness [Human Phenotype Ontology:HP:0002384,MedGen:C0270834]; Global developmental delay [Human Phenotype Ontology:HP:0001263,MedGen:C0557874]; Growth delay [Human Phenotype Ontology:HP:0001510,MedGen:C0456070]; Infantile muscular hypotonia [Human Phenotype Ontology:HP:0008947,MedGen:C1860834]; Limb hypertonia [Human Phenotype Ontology:HP:0002509,MedGen:C1838391]; Mental retardation, autosomal dominant 42 [MedGen:C4310774,OMIM:616973]; Multifocal epileptiform discharges [Human Phenotype Ontology:HP:0010841,MedGen:C4021219]; Muscular hypotonia [Human Phenotype Ontology:HP:0001252,MedGen:C0026827]; Seizures [Human Phenotype Ontology:HP:0001250,MedGen:C0036572] | |
80_ILE | SER |
ClinVar chr1:1737942 |
rs752746786
|
Pathogenic | - | not provided [MedGen:CN517202] | |
81_VAL | MET |
8.3kJPN chr12:6952375 |
rs45616032
|
- | 0.0001 | - | |
87_THR | ALA |
gnomAD chr3:179134289 |
rs780046027
|
- | 0.000244076 | - | |
89_LYS | GLU |
ClinVar chr3:179134283 |
rs387907341
|
Pathogenic | - | Charcot-Marie-Tooth disease, dominant intermediate F [MedGen:C3554654,OMIM:615185,Orphanet:ORPHA352670] | |
89_LYS | ARG |
ClinVar chr1:1737915 |
rs1064795844
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
94_PRO | LEU |
8.3kJPN chr12:6952540 |
rs999189577
|
- | 0.0001 | - | |
95_LEU | PRO |
ClinVar chr1:1736004 |
rs869312824
|
Pathogenic | - | Cortical visual impairment [Human Phenotype Ontology:HP:0100704,MedGen:C4048268]; Expressive language delay [Human Phenotype Ontology:HP:0002474,MedGen:C0454641]; Failure to thrive [Human Phenotype Ontology:HP:0001508,MedGen:C2315100]; Feeding difficulties [Human Phenotype Ontology:HP:0011968,MedGen:C0232466]; Global developmental delay [Human Phenotype Ontology:HP:0001263,MedGen:C0557874]; Growth delay [Human Phenotype Ontology:HP:0001510,MedGen:C0456070]; Inability to walk [Human Phenotype Ontology:HP:0002540,MedGen:C0560046]; Intellectual disability [Human Phenotype Ontology:HP:0001249,MedGen:C1843367]; Limb hypertonia [Human Phenotype Ontology:HP:0002509,MedGen:C1838391]; Multifocal epileptiform discharges [Human Phenotype Ontology:HP:0010841,MedGen:C4021219]; Muscular hypotonia [Human Phenotype Ontology:HP:0001252,MedGen:C0026827]; Nystagmus [Human Phenotype Ontology:HP:0000639,MedGen:C0028738]; Seizures [Human Phenotype Ontology:HP:0001250,MedGen:C0036572]; Strabismus [Human Phenotype Ontology:HP:0000486,MedGen:C0038379] | |
101_MET | VAL |
ClinVar chr1:1735987 |
rs869312825
|
Pathogenic/Likely pathogenic | - | Developmental regression [Human Phenotype Ontology:HP:0002376,MedGen:C1836830]; EEG with generalized epileptiform discharges [Human Phenotype Ontology:HP:0011198,MedGen:C4023476]; Expressive language delay [Human Phenotype Ontology:HP:0002474,MedGen:C0454641]; Focal seizures with impairment of consciousness or awareness [Human Phenotype Ontology:HP:0002384,MedGen:C0270834]; Generalized tonic-clonic seizures [Human Phenotype Ontology:HP:0002069,MedGen:C0494475]; Global developmental delay [Human Phenotype Ontology:HP:0001263,MedGen:C0557874]; Intellectual disability [Human Phenotype Ontology:HP:0001249,MedGen:C1843367]; Mental retardation, autosomal dominant 42 [MedGen:C4310774,OMIM:616973]; Multifocal epileptiform discharges [Human Phenotype Ontology:HP:0010841,MedGen:C4021219]; Muscular hypotonia [Human Phenotype Ontology:HP:0001252,MedGen:C0026827]; Seizures [Human Phenotype Ontology:HP:0001250,MedGen:C0036572]; not provided [MedGen:CN517202] | |
106_ALA | THR |
8.3kJPN chr7:100275169 |
-
|
- | 0.0001 | - | |
107_PRO | SER |
8.3kJPN chr3:179132784 |
-
|
- | 0.0001 | - | |
108_SER | PHE |
8.3kJPN chr3:179132780 |
-
|
- | 0.0003 | - | |
115_GLY | ARG |
8.3kJPN chr12:6952602 |
rs201963490
|
- | 0.0002 | - | |
118_ASP | GLY |
ClinVar chr1:1735935 |
rs1553194162
|
Pathogenic | - | Inborn genetic diseases [MeSH:D030342,MedGen:C0950123] | |
123_ILE | VAL |
8.3kJPN chr12:6952626 |
rs782780703
|
- | 0.0001 | - | |
125_ASN | SER |
8.3kJPN chr1:1735914 |
rs150628410
|
- | 0.0002 | - | |
127_LYS | ARG |
8.3kJPN chr12:6952639 |
rs1555123844
|
- | 0.0005 | - | |
129_ARG | HIS |
8.3kJPN chr12:6952645 |
rs201797921
|
- | 0.0002 | - | |
130_GLU | LYS |
ClinVar chr1:1735900 |
rs1553194155
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
133_VAL | MET |
8.3kJPN chr3:179132706 |
-
|
- | 0.0001 | - | |
134_LYS | ARG |
gnomAD chr12:6952660 |
rs61747607
|
- | 0.000560783 | - | |
143_THR | ILE |
8.3kJPN chr3:179132675 |
-
|
- | 0.0001 | - | |
175_GLN | HIS |
8.3kJPN chr7:100275748 |
rs1187109793
|
- | 0.0002 | - | |
177_THR | ASN |
8.3kJPN chr3:179131369 |
rs1274879698
|
- | 0.0003 | - | |
178_THR | ILE |
8.3kJPN chr12:6952976 |
-
|
- | 0.0001 | - | |
187_VAL | ALA |
8.3kJPN chr7:100275783 |
-
|
- | 0.0001 | - | |
195_ASP | ASN |
gnomAD chr7:100275806 |
rs79631023
|
- | 0.000751575 | - | |
200_VAL | LEU |
8.3kJPN chr7:100275821 |
-
|
- | 0.0001 | - | |
208_ILE | VAL |
8.3kJPN chr7:100275845 |
rs752126417
|
- | 0.0003 | - | |
214_ARG | TER |
8.3kJPN chr12:6953083 |
rs367934996
|
- | 0.0001 | - | |
219_ARG | CYS |
8.3kJPN chr12:6953098 |
rs782266619
|
- | 0.0002 | - | |
220_GLN | ARG |
8.3kJPN chr3:179131240 |
rs199615251
|
- | 0.0001 | - | |
223_THR | MET |
gnomAD chr3:179131231 |
rs144385061
|
- | 0.000131316 | - | |
226_GLU | GLN |
gnomAD chr12:6953119 |
rs371744474
|
- | 0.000333483 | - | |
226_GLU | LYS |
8.3kJPN chr1:1721857 |
-
|
- | 0.0001 | - | |
239_ASN | SER |
8.3kJPN chr1:1720692 |
rs760166038
|
- | 0.0001 | - | |
240_ALA | THR |
8.3kJPN chr7:100276039 |
-
|
- | 0.0001 | - | |
245_SER | LEU |
8.3kJPN chr12:6954784 |
rs782597916
|
- | 0.0004 | - | |
251_ARG | HIS |
8.3kJPN chr12:6954802 |
rs782467023
|
- | 0.0001 | - | |
256_ARG | GLN |
8.3kJPN chr12:6954817 |
rs781879948
|
- | 0.0001 | - | |
267_GLU | LYS |
gnomAD chr12:6954849 |
rs150593798
|
- | 0.000139228 | - | |
267_ASP | ASN |
8.3kJPN chr3:179123095 |
rs752762550
|
- | 0.0001 | - | |
268_ASN | SER |
8.3kJPN chr1:1720605 |
rs757342463
|
- | 0.0002 | - | |
268_ASN | ILE |
8.3kJPN chr7:100276124 |
rs147810006
|
- | 0.0001 | - | |
268_SER | ARG |
8.3kJPN chr12:6954854 |
-
|
- | 0.0003 | - | |
271_CYS | TYR |
8.3kJPN chr3:179123082 |
-
|
- | 0.0001 | - | |
272_GLY | SER |
gnomAD chr12:6954864 |
rs5442
|
- | 0.0484364 | - | |
287_ALA | SER |
8.3kJPN chr12:6954909 |
rs782090563
|
- | 0.0001 | - | |
289_TYR | CYS |
8.3kJPN chr3:179123028 |
-
|
- | 0.0001 | - | |
294_CYS | ARG |
8.3kJPN chr3:179123014 |
-
|
- | 0.0001 | - | |
299_ALA | VAL |
8.3kJPN chr1:1720512 |
-
|
- | 0.0001 | - | |
304_ARG | CYS |
8.3kJPN chr3:179122984 |
rs201776673
|
- | 0.0001 | - | |
309_ALA | THR |
8.3kJPN chr7:100276326 |
rs1554371972
|
- | 0.0001 | - | |
313_ASN | SER |
8.3kJPN chr3:179119086 |
-
|
- | 0.0001 | - | |
320_VAL | ILE |
gnomAD chr3:179119066 |
rs61750380
|
- | 0.00419188 | - | |
326_ALA | THR |
ClinVar chr1:1718817 |
rs869312826
|
Pathogenic | - | Generalized tonic-clonic seizures [Human Phenotype Ontology:HP:0002069,MedGen:C0494475]; Global developmental delay [Human Phenotype Ontology:HP:0001263,MedGen:C0557874]; Intellectual disability [Human Phenotype Ontology:HP:0001249,MedGen:C1843367]; Muscular hypotonia [Human Phenotype Ontology:HP:0001252,MedGen:C0026827]; Seizures [Human Phenotype Ontology:HP:0001250,MedGen:C0036572] | |
330_GLY | ASP |
8.3kJPN chr12:6956028 |
-
|
- | 0.0001 | - | |
339_TRP | TER |
ClinVar chr12:6956056 |
rs879253773
|
Pathogenic | - | Night blindness, congenital stationary, type 1h [MedGen:C4310758,OMIM:617024] |