UniProtKB/Swiss-Prot O75563: Variant p.Ala202Ser

Src kinase-associated phosphoprotein 2
Gene: SKAP2
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Variant information Variant position:

202 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 Serine (S) at position 202 (A202S, p.Ala202Ser). 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 small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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 rs1129771 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

KKDCCFEISAPDKRIYQFTA A SPKDAEEWVQQLKFVLQDME 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                         KKDCCFEISAPDKRIYQFTAASPKDAEEWVQQLKFVLQDME

Mouse                         KKDCCFEICAPDKRIYQFTAASPKDAEEWVQQLKFILQDLG

Rat                           KKDCCFEICAPDKRIYQFTAASPKDAEEWVQQLKFILQDMG

Bovine                        KKDCCFEISAPDKRIYQFTAASPKDAEEWVQQLNFVLQDMG

Xenopus tropicalis            KKDCCFEIFAPDKRVYQFAASSPKEAEEWV---NIIMNSRG

Zebrafish                     KRDCCFEVSAPDKRVYQFCAASEKEAKEWVEHIDFLIKDLG

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 – 359	Src kinase-associated phosphoprotein 2
Domain	116 – 219	PH
Modified residue	197 – 197	Phosphotyrosine

Literature citations
RA70 is a src kinase-associated protein expressed ubiquitously.
Kouroku Y.; Soyama A.; Fujita E.; Urase K.; Tsukahara T.; Momoi T.;
Biochem. Biophys. Res. Commun. 252:738-742(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; TISSUE SPECIFICITY; INDUCTION; POSSIBLE INTERACTION WITH FYN; HCK AND LYN; FUNCTION; VARIANT SER-202; SKAP-HOM, a novel adaptor protein homologous to the FYN-associated protein SKAP55.
Marie-Cardine A.; Verhagen A.M.; Eckerskorn C.; Schraven B.;
FEBS Lett. 435:55-60(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; TISSUE SPECIFICITY; PHOSPHORYLATION; INTERACTION WITH FYB1; VARIANT SER-202; Src-associated adaptor protein with PH and SH3 domain.
Lee J.-S.; Suh K.S.; Burr J.G.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT SER-202;

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.