UniProtKB/Swiss-Prot P25063: Variant p.Ala57Val

Signal transducer CD24
Gene: CD24
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Variant information Variant position:

57 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 Alanine (A) to Valine (V) at position 57 (A57V, p.Ala57Val). 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 hydrophobic (A) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

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:

Probable risk factor for multiple sclerosis; homozygous patients express higher levels of CD24 on peripheral blood T-cells than homozygous controls. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs878859113 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

SSQSTSNSGLAPNPTNATTK A AGGALQSTASLFVVSLSLLH 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                         SSQSTSNSGLAPNPTNATTKAAGGALQSTASLFVVSLSLLH

Mouse                         NQNISA----SPNPSNATTRGGGSSLQSTAGLLALSLSLLH

Rat                           NQSISA----APNPTNATTRSGCSSLQSTAGLLALSLSLLH

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
Peptide	27 – 59	Signal transducer CD24
Region	28 – 58	Disordered
Lipidation	59 – 59	GPI-anchor amidated glycine
Glycosylation	52 – 52	N-linked (GlcNAc...) asparagine

Literature citations
CD24, a signal-transducing molecule expressed on human B cells, is a major surface antigen on small cell lung carcinomas.
Jackson D.; Waibel R.; Weber E.; Bell J.; Stahel R.A.;
Cancer Res. 52:5264-5270(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT VAL-57; The small cell lung cancer antigen cluster-4 and the leukocyte antigen CD24 are allelic isoforms of the same gene (CD24) on chromosome band 6q21.
Zarn J.A.; Jackson D.G.; Bell M.V.; Jones T.; Weber E.; Sheer D.; Waibel R.; Stahel R.A.;
Cytogenet. Cell Genet. 70:119-125(1995)
Cited for: VARIANT VAL-57; IDENTIFICATION; CD24 is a genetic modifier for risk and progression of multiple sclerosis.
Zhou Q.; Rammohan K.; Lin S.; Robinson N.; Li O.; Liu X.; Bai X.-F.; Yin L.; Scarberry B.; Du P.; You M.; Guan K.; Zheng P.; Liu Y.;
Proc. Natl. Acad. Sci. U.S.A. 100:15041-15046(2003)
Cited for: VARIANT VAL-57; TISSUE SPECIFICITY; INVOLVEMENT IN SUSCEPTIBILITY TO MS;

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.