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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q70Z53: Variant p.Arg16His

Protein FRA10AC1
Gene: FRA10AC1
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Variant information Variant position: help 16 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Arginine (R) to Histidine (H) at position 16 (R16H, p.Arg16His). 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 large size and basic (R) to medium size and polar (H) 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

Polymorphism: help Expansion of a polymorphic CGG repeat within the 5'-UTR of FRA10AC1 results in expression of the folate-sensitive fragile site FRA10A. The number of the CGG repeats normally varies in the population from 8 to 14. In contrast, individuals cytogenetically expressing the fragile site have at least 200 CGG repeats (PubMed:15203205). No distinct phenotype has been associated with expression of FRA10A. Nevertheless, some studies have proposed that this fragile site expression might be associated with intellectual disability, tumorigenesis, or neurological disorders. However, these associations can be attributed to ascertainment bias. Additional information on the polymorphism described.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 16 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 315 The length of the canonical sequence.
Location on the sequence: help MHGHGGYDSDFSDDE R CGESSKRKKRTVEDDLLLQK 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                         MHGHGGYDSDFSDDERCGESSKRKKRTVEDDLLLQK

Mouse                         MHGHGGYDSDFSDDEQGGGSSKKRKKTVEDELLLTK

Rat                           MHGHGGYDSDFSDDEQGGGSSKKRKKTVEDELLLTK

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 1 – 315 Protein FRA10AC1
Region 1 – 28 Disordered
Modified residue 1 – 1 N-acetylmethionine
Modified residue 9 – 9 Phosphoserine
Modified residue 12 – 12 Phosphoserine
Modified residue 36 – 36 N6-acetyllysine



Literature citations
Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein.
Sarafidou T.; Kahl C.; Martinez-Garay I.; Mangelsdorf M.; Gesk S.; Baker E.; Kokkinaki M.; Talley P.; Maltby E.L.; French L.; Harder L.; Hinzmann B.; Nobile C.; Richkind K.; Finnis M.; Deloukas P.; Sutherland G.R.; Kutsche K.; Moschonas N.K.; Siebert R.; Gecz J.;
Genomics 84:69-81(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4 AND 5); SUBCELLULAR LOCATION; TISSUE SPECIFICITY; POLYMORPHISM; VARIANTS HIS-16 AND ARG-78; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANTS HIS-16 AND ARG-78; Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
Gauci S.; Helbig A.O.; Slijper M.; Krijgsveld J.; Heck A.J.; Mohammed S.;
Anal. Chem. 81:4493-4501(2009)
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1; VARIANT [LARGE SCALE ANALYSIS] HIS-16; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]; Toward a comprehensive characterization of a human cancer cell phosphoproteome.
Zhou H.; Di Palma S.; Preisinger C.; Peng M.; Polat A.N.; Heck A.J.; Mohammed S.;
J. Proteome Res. 12:260-271(2013)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-12 AND SER-278; VARIANT [LARGE SCALE ANALYSIS] HIS-16; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];
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.