UniProtKB/Swiss-Prot P05154: Variant p.Ala55Val

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 55 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 55 (A55V, p.Ala55Val). 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: In allele PCI*B. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs6118 [ dbSNP | Ensembl ]

Sequence information

Variant position: 55 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 406 The length of the canonical sequence.
Location on the sequence: HVGATVAPSSRRDFTFDLYR A LASAAPSQSIFFSPVSISMS 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	26 – 406	Plasma serine protease inhibitor
Glycosylation	39 – 39	O-linked (GalNAc...) threonine
Helix	48 – 59

Literature citations

A two-allele polymorphism in protein C inhibitor with varying frequencies in different ethnic populations.
Radtke K.-P.; Greengard J.S.; Fernandez J.A.; Villoutreix B.O.; Griffin J.H.;
Thromb. Haemost. 75:62-69(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS VAL-55; ASN-64 AND GLU-105; Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLY-44; VAL-55; ASN-64; VAL-94; GLU-105; PRO-115 AND ARG-217; Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANTS VAL-55; ASN-64; GLU-105; ALA-121 AND ARG-217;