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UniProtKB/Swiss-Prot Q14691: Variant p.Arg83Cys

DNA replication complex GINS protein PSF1
Gene: GINS1
Variant information

Variant position:  83
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Cysteine (C) at position 83 (R83C, p.Arg83Cys).
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:  Change from large size and basic (R) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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

Involvement in disease:  Immunodeficiency 55 (IMD55) [MIM:617827]: An autosomal recessive primary immunodeficiency characterized by chronic neutropenia, natural killer cell deficiency, recurrent viral and bacterial infections, and intrauterine growth retardation. Postnatal growth retardation is present in most patients. {ECO:0000269|PubMed:28414293}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In IMD55; lower GINS1 protein levels and defective DNA replication are observed in patient cells; the mutant does not interact with GINS3 and GINS4.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  83
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  196
The length of the canonical sequence.

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.

Sequence annotation in neighborhood:  
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.

Chain 1 – 196 DNA replication complex GINS protein PSF1
Helix 59 – 94

Literature citations

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency.
Cottineau J.; Kottemann M.C.; Lach F.P.; Kang Y.H.; Vely F.; Deenick E.K.; Lazarov T.; Gineau L.; Wang Y.; Farina A.; Chansel M.; Lorenzo L.; Piperoglou C.; Ma C.S.; Nitschke P.; Belkadi A.; Itan Y.; Boisson B.; Jabot-Hanin F.; Picard C.; Bustamante J.; Eidenschenk C.; Boucherit S.; Aladjidi N.; Lacombe D.; Barat P.; Qasim W.; Hurst J.A.; Pollard A.J.; Uhlig H.H.; Fieschi C.; Michon J.; Bermudez V.P.; Abel L.; de Villartay J.P.; Geissmann F.; Tangye S.G.; Hurwitz J.; Vivier E.; Casanova J.L.; Smogorzewska A.; Jouanguy E.;
J. Clin. Invest. 127:1991-2006(2017)

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.