UniProtKB/Swiss-Prot Q96BF3: Variant p.Ala202Pro

• Variant information
• Sequence information
• Literature citations
• All

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 Proline (P) at position 202 (A202P, p.Ala202Pro). 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 (P) 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 rs28477168 [ dbSNP | Ensembl ]

Sequence information

Variant position: 202 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 282 The length of the canonical sequence.
Location on the sequence: DSGNSPGNAFYSNVLYRPRG A PKKSEDCSGEGKDQRGQSIY 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.
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	23 – 282	Transmembrane and immunoglobulin domain-containing protein 2
Topological domain	172 – 282	Cytoplasmic
Region	201 – 282	Disordered
Modified residue	192 – 192	Phosphotyrosine
Modified residue	220 – 220	Phosphoserine
Modified residue	222 – 222	Phosphotyrosine
Mutagenesis	192 – 192	Y -> F. Partial loss of phosphorylation; when associated with F-197. Complete loss of phosphorylation; when associated with F-222.
Mutagenesis	197 – 197	Y -> F. Partial loss of phosphorylation; when associated with F-192 or with F-222.
Mutagenesis	222 – 222	Y -> F. Partial loss of phosphorylation; when tested individually or when associated with F-197. Complete loss of phosphorylation; when associated with F-192.

Literature citations

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); VARIANT PRO-202;