UniProtKB/Swiss-Prot P01009: Variant p.Glu366Lys

Alpha-1-antitrypsin
Gene: SERPINA1
Chromosomal location: 14q32.1
Variant information

Variant position:  366
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Glutamate (E) to Lysine (K) at position 366 (E366K, p.Glu366Lys).
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 sequence shown is that of the M1V allele which is the most common form of PI (44 to 49%). Other frequent alleles are: M1A 20 to 23%; M2 10 to 11%; M3 14 to 19%.
Additional information on the polymorphism described.

Variant description:  In Z/Z-Augsburg/Z-Tun; associated with A-237 in Z.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  366
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  418
The length of the canonical sequence.

Location on the sequence:   TEEAPLKLSKAVHKAVLTID  E KGTEAAGAMFLEAIPMSIPP
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.

TypePositionsDescription
Chain 25 – 418 Alpha-1-antitrypsin
Alternative sequence 307 – 418 Missing. In isoform 3.
Alternative sequence 356 – 418 AVHKAVLTIDEKGTEAAGAMFLEAIPMSIPPEVKFNKPFVFLMIEQNTKSPLFMGKVVNPTQK -> VRSP. In isoform 2.
Mutagenesis 382 – 382 M -> V. Oxidation-resistant inhibitor of therapeutic importance.
Beta strand 366 – 381


Literature citations

Characterization of a new variant of alpha1 antitrypsin M Lille (p.Gly148Trp).
Balduyck M.; Porchet N.; Aubert J.-P.; Zerimech F.; Douchain F.; Verchain S.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS TRP-172; ALA-237 AND LYS-366;

Sequence data of the rare deficient alpha 1-antitrypsin variant PI Zaugsburg.
Faber J.-P.; Weidinger S.; Olek K.;
Am. J. Hum. Genet. 46:1158-1162(1990)
Cited for: VARIANT Z-AUGSBURG LYS-366;

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: VARIANTS Z ALA-237 AND LYS-366; VARIANT S VAL-288; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; GLYCOSYLATION; INTERACTION WITH CANX AND PDIA3;

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.