UniProtKB/Swiss-Prot P30203: Variant p.Ala257Val

T-cell differentiation antigen CD6
Gene: CD6
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Variant information Variant position:

257 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 257 (A257V, p.Ala257Val). 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
Other resources:

Links to websites of interest for the variant.

Variant rs2074225 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LWDCPGLPGQHYCGHKEDAG A VCSEHQSWRLTGGADRCEGQ 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                         LWDCPGLPGQHYCGHKEDAGAVCSEHQSWRLTGGADRCEGQ

Mouse                         LWDCPGRPGDQYCGHKEDAGVVCSEHQSWRLTGGIDSCEGQ

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	18 – 668	T-cell differentiation antigen CD6
Topological domain	18 – 402	Extracellular
Domain	161 – 260	SRCR 2
Disulfide bond	199 – 259
Beta strand	256 – 259

Literature citations
Structure and chromosomal location of the human CD6 gene: detection of five human CD6 isoforms.
Bowen M.A.; Whitney G.S.; Neubauer M.; Starling G.C.; Palmer D.; Zhang J.; Nowak N.J.; Shows T.B.; Aruffo A.;
J. Immunol. 158:1149-1156(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS CD6A; CD6B; CD6C; CD6D AND CD6E); ALTERNATIVE SPLICING; VARIANTS VAL-257 AND SER-606; SUBCELLULAR LOCATION; The lymphocyte glycoprotein CD6 contains a repeated domain structure characteristic of a new family of cell surface and secreted proteins.
Aruffo A.; Melnick M.B.; Linsley P.S.; Seed B.;
J. Exp. Med. 174:949-952(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-468; VARIANT VAL-257; Extracellular isoforms of CD6 generated by alternative splicing regulate targeting of CD6 to the immunological synapse.
Castro M.A.; Oliveira M.I.; Nunes R.J.; Fabre S.; Barbosa R.; Peixoto A.; Brown M.H.; Parnes J.R.; Bismuth G.; Moreira A.; Rocha B.; Carmo A.M.;
J. Immunol. 178:4351-4361(2007)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-278 (ISOFORM 6); NUCLEOTIDE SEQUENCE [MRNA] OF 1-300 (ISOFORM 7); SUBCELLULAR LOCATION; VARIANTS MET-217 AND VAL-257; ALTERNATIVE SPLICING;

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.