UniProtKB/Swiss-Prot P01009: Variant p.Asp280Val

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 280 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 Aspartate (D) to Valine (V) at position 280 (D280V, p.Asp280Val). 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 (D) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: -3 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 P-Duarte/P-Cardiff/P-Lowell; associated with H-415 in Y-Barcelona. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs121912714 [ dbSNP | Ensembl ]

Sequence information

Variant position: 280 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: SSWVLLMKYLGNATAIFFLP D EGKLQHLENELTHDIITKFL 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	25 – 418	Alpha-1-antitrypsin
Glycosylation	271 – 271	N-linked (GlcNAc...) (complex) asparagine
Beta strand	280 – 282

Literature citations

Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: alpha 1-antitrypsin deficiency variant P-Duarte.
Hildesheim J.; Kinsley G.; Bissell M.; Pierce J.; Brantly M.;
Hum. Mutat. 2:221-228(1993)
Cited for: VARIANT P-DUARTE VAL-280; Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256-->Val); PiM-Malton (Phe51-->deletion) and PiI (Arg39-->Cys).
Graham A.; Kalsheker N.A.; Newton C.R.; Bamforth F.J.; Powell S.J.; Markham A.F.;
Hum. Genet. 84:55-58(1989)
Cited for: VARIANTS CYS-63; PHE-75 DEL AND VAL-280; Identification and molecular characterization of the new alpha-1-antitrypsin deficient allele PI YBarcelona (Asp256Val and Pro391His).
Jardi R.; Rodriguez F.; Miravitlles M.; Vidal R.; Cotrina M.; Quer J.; Pascual C.; Weidinger S.;
Hum. Mutat. 12:213-213(1998)
Cited for: VARIANTS Y-BARCELONA VAL-280 AND HIS-415;