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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q15389: Variant p.Ala119Ser

Angiopoietin-1
Gene: ANGPT1
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Variant information Variant position: help 119 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Alanine (A) to Serine (S) at position 119 (A119S, p.Ala119Ser). 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: help Change from small size and hydrophobic (A) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In HAE5; decreased oligomerization; decreased interaction with TEK; fails to form proper cell-cell adhesions in an in vitro model of endothelial cell barrier. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 119 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 498 The length of the canonical sequence.
Location on the sequence: help KLENYIVENMKSEMAQIQQN A VQNHTATMLEIGTSLLSQTA 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.
Residue conservation: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         KLENYIVENMKSEMAQIQQNAVQNHTATMLEIGTSLLSQTA

                              KIENYIVENMKSEMAQIQQNAVQNHTATMLEIGTSLLSQTA

Mouse                         KLENYIVENMKSEMAQIQQNAVQNHTATMLEIGTSLLSQTA

Rat                           KLENYIVENMKSEMAQIQQNAVQNHTATMLEIGTSLLSQTA

Pig                           KIENYIVENMKSEMAQIQQNAVQNHTATMLEIGTSLLSQTA

Bovine                        KIENYIVENMKSEMAQIQQNAVQNHTATMLEIGTSLLSQTA
Sequence annotation in neighborhood: help 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 16 – 498 Angiopoietin-1
Coiled coil 81 – 119
Glycosylation 122 – 122 N-linked (GlcNAc...) asparagine



Literature citations
Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema.
Bafunno V.; Firinu D.; D'Apolito M.; Cordisco G.; Loffredo S.; Leccese A.; Bova M.; Barca M.P.; Santacroce R.; Cicardi M.; Del Giacco S.; Margaglione M.;
J. Allergy Clin. Immunol. 141:1009-1017(2018)
Cited for: VARIANTS HAE5 SER-119; CYS-225 AND GLN-494; INVOLVEMENT IN HAE5; SUBUNIT; INTERACTION WITH TEK; CHARACTERIZATION OF VARIANTS HAE5 SER-119; CYS-225 AND GLN-494; Angiopoietin-1 haploinsufficiency affects the endothelial barrier and causes hereditary angioedema.
d'Apolito M.; Santacroce R.; Colia A.L.; Cordisco G.; Maffione A.B.; Margaglione M.;
Clin. Exp. Allergy 49:626-635(2019)
Cited for: VARIANT HAE5 SER-119; FUNCTION; INTERACTION WITH TEK; CHARACTERIZATION OF VARIANT HAE5 SER-119;
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.