UniProtKB/Swiss-Prot Q70Z53: Variant p.Ser251Phe

Protein FRA10AC1
Gene: FRA10AC1
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Variant information Variant position:

251 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

From Serine (S) to Phenylalanine (F) at position 251 (S251F, p.Ser251Phe). 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 small size and polar (S) to large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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:

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:

Links to websites of interest for the variant.

Variant rs11187583 [ dbSNP | Ensembl ]

Sequence information Variant position:

251 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

315 The length of the canonical sequence.
Location on the sequence:

KRKDKTKKDCEESSHKKSRL S SAEEASKKKDKGHSSSKKSE 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:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         KRKDKTKKDCEESSHKKSRLSSAEEASKKKDKGHSSSKKSE

Mouse                         KKKSKTTPECDESPRKKSRSPPSEEASKGKDEGHSSSKKSE

Rat                           KKRSKTKTESDESPHKNSRSSSSEEASQGKDEGHSSSKRSE

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.

Type	Positions	Description
Chain	1 – 315	Protein FRA10AC1
Region	226 – 315	Disordered
Modified residue	251 – 251	Phosphoserine
Modified residue	252 – 252	Phosphoserine

Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.

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.