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

Coloring

Unicolor (beige)

The number of binding partners

Group

Downdload

Format:

Molecule viewer

#binding
partners
  6
  5
  4
  3
  2
  1
  0

Sequence information

1   MSELDQLRQE   AEQLKNQIRD   ARKACADATL   SQITNNIDPV   GRIQMRTRRT   50
51   LRGHLAKIYA   MHWGTDSRLL   VSASQDGKLI   IWDSYTTNKV   HAIPLRSSWV   100
101   MTCAYAPSGN   YVACGGLDNI   CSIYNLKTRE   GNVRVSRELA   GHTGYLSCCR   150
151   FLDDNQIVTS   SGDTTCALWD   IETGQQTTTF   TGHTGDVMSL   SLAPDTRLFV   200
201   SGACDASAKL   WDVREGMCRQ   TFTGHESDIN   AICFFPNGNA   FATGSDDATC   250
251   RLFDLRADQE   LMTYSHDNII   CGITSVSFSK   SGRLLLAGYD   DFNCNVWDAL   300
301   KADRAGVLAG   HDNRVSCLGV   TDDGMAVATG   SWDSFLKIWN     350

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(4.7kJPN)
Disease name
3_GLU LYS 4.7kJPN
chr3:179143982
rs955229785
- 0.0001 -
8_ARG HIS 4.7kJPN
chr12:6950474
rs199531660
- 0.0003 -
11_ALA VAL 4.7kJPN
chr12:6950483
rs782550076
- 0.0001 -
15_LYS GLN 4.7kJPN
chr12:6950494
-
- 0.0002 -
21_ALA VAL 4.7kJPN
chr7:100274162
-
- 0.0001 -
22_ARG GLN 4.7kJPN
chr3:179138708
rs1318528118
- 0.0001 -
29_THR MET 4.7kJPN
chr3:179138687
rs762114369
- 0.0003 -
30_LEU VAL 4.7kJPN
chr12:6950780
rs1429928202
- 0.0001 -
31_THR SER 4.7kJPN
chr7:100274192
-
- 0.0001 -
43_ILE MET 4.7kJPN
chr3:179137261
rs1187523844
- 0.0003 -
47_THR MET 4.7kJPN
chr12:6952177
rs116400596
- 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 4.7kJPN
chr1:1747229
rs141326438
- 0.0003 -
60_ALA THR 4.7kJPN
chr12:6952215
rs782554195
- 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 4.7kJPN
chr12:6952360
rs2234756
- 0.0097 -
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]
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]
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 4.7kJPN
chr7:100275169
-
- 0.0001 -
108_SER PHE 4.7kJPN
chr3:179132780
-
- 0.0001 -
111_PHE ILE 4.7kJPN
chr12:6952590
-
- 0.0001 -
111_PHE LEU 4.7kJPN
chr12:6952592
-
- 0.0001 -
115_GLY ARG 4.7kJPN
chr12:6952602
rs201963490
- 0.0003 -
118_ASP GLY ClinVar
chr1:1735935
rs1553194162
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
123_ILE VAL 4.7kJPN
chr12:6952626
rs782780703
- 0.0001 -
125_ASN SER 4.7kJPN
chr1:1735914
rs150628410
- 0.0003 -
127_LYS ARG 4.7kJPN
chr12:6952639
rs1555123844
- 0.0005 -
129_ARG HIS 4.7kJPN
chr12:6952645
rs201797921
- 0.0002 -
130_GLU LYS ClinVar
chr1:1735900
rs1553194155
Likely pathogenic - not provided [MedGen:CN517202]
133_VAL MET 4.7kJPN
chr3:179132706
-
- 0.0001 -
136_SER THR 4.7kJPN
chr7:100275260
-
- 0.0001 -
143_THR ILE 4.7kJPN
chr3:179132675
-
- 0.0001 -
175_GLN HIS 4.7kJPN
chr7:100275748
rs1187109793
- 0.0001 -
177_THR ASN 4.7kJPN
chr3:179131369
rs1274879698
- 0.0002 -
178_THR ILE 4.7kJPN
chr12:6952976
-
- 0.0001 -
187_VAL ALA 4.7kJPN
chr7:100275783
-
- 0.0001 -
200_VAL LEU 4.7kJPN
chr7:100275821
-
- 0.0001 -
208_ILE VAL 4.7kJPN
chr7:100275845
rs752126417
- 0.0003 -
214_ARG TER 4.7kJPN
chr12:6953083
rs367934996
- 0.0001 -
219_ARG CYS 4.7kJPN
chr12:6953098
rs782266619
- 0.0002 -
239_ASN SER 4.7kJPN
chr1:1720692
rs760166038
- 0.0002 -
240_ALA THR 4.7kJPN
chr7:100276039
-
- 0.0001 -
245_SER LEU 4.7kJPN
chr12:6954784
rs782597916
- 0.0004 -
267_ASP ASN 4.7kJPN
chr3:179123095
rs752762550
- 0.0001 -
268_ASN SER 4.7kJPN
chr1:1720605
rs757342463
- 0.0003 -
268_ASN ILE 4.7kJPN
chr7:100276124
rs147810006
- 0.0002 -
268_SER ARG 4.7kJPN
chr12:6954854
-
- 0.0005 -
287_ALA SER 4.7kJPN
chr12:6954909
rs782090563
- 0.0002 -
294_CYS ARG 4.7kJPN
chr3:179123014
-
- 0.0001 -
299_ALA VAL 4.7kJPN
chr1:1720512
-
- 0.0001 -
304_ARG CYS 4.7kJPN
chr3:179122984
rs201776673
- 0.0001 -
309_ALA THR 4.7kJPN
chr7:100276326
rs1554371972
- 0.0001 -
313_ASN SER 4.7kJPN
chr3:179119086
-
- 0.0001 -
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 4.7kJPN
chr12:6956028
-
- 0.0002 -
339_TRP TER ClinVar
chr12:6956056
rs879253773
Pathogenic - Night blindness, congenital stationary, type 1h [MedGen:C4310758,OMIM:617024]
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.