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
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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
Disease name
53_GLY ASP ClinVar
chr3:179137232
rs387907340 Pathogenic Charcot-Marie-Tooth disease, dominant intermediate F [MedGen:C3554654,OMIM:615185,Orphanet:ORPHA352670]
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]
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]
118_ASP GLY ClinVar
chr1:1735935
rs1553194162 Pathogenic Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
130_GLU LYS ClinVar
chr1:1735900
rs1553194155 Likely pathogenic not provided [MedGen:CN517202]
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]
339_TRP TER ClinVar
chr12:6956056
rs879253773 Pathogenic Night blindness, congenital stationary, type 1h [MedGen:C4310758,OMIM:617024]