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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08754: Variant p.Gly45Ser

Guanine nucleotide-binding protein G(i) subunit alpha-3
Gene: GNAI3
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Variant information Variant position: help 45 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Glycine (G) to Serine (S) at position 45 (G45S, p.Gly45Ser). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from glycine (G) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In ARCND1; likely pathogenic. Any additional useful information about the variant.


Sequence information Variant position: help 45 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 354 The length of the canonical sequence.
Location on the sequence: help EDGEKAAKEVKLLLLGAGES G KSTIVKQMKIIHEDGYSEDE The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         EDGEKAAKEVKLLLLGAGESGKSTIVKQMKIIHEDGYSEDE

Mouse                         EDGEKAAKEVKLLLLGAGESGKSTIVKQMKIIHEDGYSEDE

Rat                           EDGEKAAKEVKLLLLGAGESGKSTIVKQMKIIHEDGYSEDE
Sequence annotation in neighborhood: help The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.
TypePositionsDescription
Chain 2 – 354 Guanine nucleotide-binding protein G(i) subunit alpha-3
Domain 32 – 354 G-alpha
Region 35 – 48 G1 motif
Binding site 43 – 48
Binding site 47 – 47
Mutagenesis 35 – 35 K -> A. Decreased affinity for PLCD4.
Mutagenesis 36 – 36 L -> A. Increased affinity for PLCD4.
Mutagenesis 37 – 37 L -> A. No effect on binding to PLCD4.
Mutagenesis 39 – 39 L -> A. Decreased affinity for PLCD4.
Mutagenesis 42 – 42 G -> R. Decreased affinity for PLCD4.
Beta strand 42 – 45



Literature citations
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Vegas N.; Demir Z.; Gordon C.T.; Breton S.; Romanelli Tavares V.L.; Moisset H.; Zechi-Ceide R.; Kokitsu-Nakata N.M.; Kido Y.; Marlin S.; Gherbi Halem S.; Meerschaut I.; Callewaert B.; Chung B.; Revencu N.; Lehalle D.; Petit F.; Propst E.J.; Papsin B.C.; Phillips J.H.; Jakobsen L.; Le Tanno P.; Thevenon J.; McGaughran J.; Gerkes E.H.; Leoni C.; Kroisel P.; Tan T.Y.; Henderson A.; Terhal P.; Basel-Salmon L.; Alkindy A.; White S.M.; Passos-Bueno M.R.; Pingault V.; De Pontual L.; Amiel J.;
Hum. Mutat. 43:582-594(2022)
Cited for: VARIANTS ARCND1 SER-45 AND ASN-47;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.