UniProtKB/Swiss-Prot P20848: Variant p.Glu342Lys

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 342 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 Glutamate (E) to Lysine (K) at position 342 (E342K, p.Glu342Lys). 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 acidic (E) to large size and basic (K) 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
Polymorphism: The SERPINA2 gene is highly polymorphic. Deletions, frameshift mutations and a critical start codon variation (ATG->ATA, dbSNP:rs1956172) have been found in some populations. Population studies suggest that a pseudogenization process may be ongoing in humans (PubMed:23826168, PubMed:9383284, PubMed:17135331). 3 potentially functional alleles, V1, V2 and V3, have been described in the literature. The sequence shown in this entry is that of allele V2 (PubMed:23826168). Additional information on the polymorphism described.
Variant description: In allele V1. Any additional useful information about the variant.

Sequence information

Variant position: 342 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 421 The length of the canonical sequence.
Location on the sequence: GTYKLKRVLRNLGITKIFSN E ADLSGVSQEAPLKLSKAVHV 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	22 – 421	Alpha-1-antitrypsin-related protein

Literature citations

SERPINA2 is a novel gene with a divergent function from SERPINA1.
Marques P.I.; Ferreira Z.; Martins M.; Figueiredo J.; Silva D.I.; Castro P.; Morales-Hojas R.; Simoes-Correia J.; Seixas S.;
PLoS ONE 8:E66889-E66889(2013)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS PRO-330 AND LYS-342; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; GLYCOSYLATION; INTERACTION WITH CANX AND PDIA3;