UniProtKB/Swiss-Prot P01011: Variant p.Pro252Ala

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 252 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 Proline (P) to Alanine (A) at position 252 (P252A, p.Pro252Ala). 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 medium size and hydrophobic (P) to small size and hydrophobic (A) 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
Variant description: In Bonn-1. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs17473 [ dbSNP | Ensembl ]

Sequence information

Variant position: 252 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 423 The length of the canonical sequence.
Location on the sequence: YLSKKKWVMVPMMSLHHLTI P YFRDEELSCTVVELKYTGNA 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	24 – 423	Alpha-1-antichymotrypsin
Chain	26 – 423	Alpha-1-antichymotrypsin His-Pro-less
Glycosylation	271 – 271	N-linked (GlcNAc...) asparagine
Alternative sequence	96 – 423	Missing. In isoform 3.
Alternative sequence	217 – 423	Missing. In isoform 2.
Beta strand	237 – 256

Literature citations

A leucine-to-proline substitution causes a defective alpha 1-antichymotrypsin allele associated with familial obstructive lung disease.
Poller W.; Faber J.-P.; Weidinger S.; Tief K.; Scholz S.; Fischer M.; Olek K.; Kirchgesser M.; Heidtmann H.-H.;
Genomics 17:740-743(1993)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS PRO-78 AND ALA-252; Mis-sense mutation of alpha 1-antichymotrypsin gene associated with chronic lung disease.
Poller W.; Faber J.-P.; Scholz S.; Weindinger S.; Bartholome K.; Olek K.; Eriksson S.;
Lancet 339:1538-1538(1992)
Cited for: VARIANT ALA-252;