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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00747: Variant p.Lys330Glu

Plasminogen
Gene: PLG
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Variant information Variant position: help 330 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 Lysine (K) to Glutamate (E) at position 330 (K330E, p.Lys330Glu). 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 large size and basic (K) to medium size and acidic (E) 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 HAE4. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 330 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 810 The length of the canonical sequence.
Location on the sequence: help TPENFPCKNLDENYCRNPDG K RAPWCHTTNSQVRWEYCKIP 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                         TPENFPCKNLDENYCRNPDGKRAPWCHTTNSQVRWEYCKIP

Rhesus macaque                TPENFPCKNLDENYCRNPDGEKAPWCYTTNSQVRWEYCKIP

Mouse                         TPENFPCKNLEENYCRNPDGETAPWCYTTDSQLRWEYCEIP

Rat                           TPENFPCKNLEENYCRNPDGETAPWCYTTDSQLRWEYCEIP

Pig                           TPENFPCKNLEENYCRNPDGETAPWCYTTDSEVRWDYCKIP

Bovine                        TPENFPCKNLEENYCRNPNGEKAPWCYTTNSEVRWEYCTIP
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 20 – 810 Plasminogen
Chain 20 – 580 Plasmin heavy chain A
Chain 79 – 466 Angiostatin
Chain 98 – 580 Plasmin heavy chain A, short form
Domain 275 – 352 Kringle 3
Disulfide bond 275 – 352
Disulfide bond 296 – 335
Disulfide bond 324 – 347



Literature citations
Hereditary angioedema with a mutation in the plasminogen gene.
Bork K.; Wulff K.; Steinmueller-Magin L.; Braenne I.; Staubach-Renz P.; Witzke G.; Hardt J.;
Allergy 73:442-450(2018)
Cited for: VARIANT HAE4 GLU-330; INVOLVEMENT IN HAE4; Plasminogen gene mutation with normal C1 inhibitor hereditary angioedema: Three additional French families.
Belbezier A.; Hardy G.; Marlu R.; Defendi F.; Dumestre Perard C.; Boccon-Gibod I.; Launay D.; Bouillet L.;
Allergy 73:2237-2239(2018)
Cited for: VARIANT HAE4 GLU-330; INVOLVEMENT IN HAE4; A missense mutation of the plasminogen gene in hereditary angioedema with normal C1 inhibitor in Japan.
Yakushiji H.; Hashimura C.; Fukuoka K.; Kaji A.; Miyahara H.; Kaname S.; Horiuchi T.;
Allergy 73:2244-2247(2018)
Cited for: VARIANT HAE4 GLU-330; INVOLVEMENT IN HAE4; A missense mutation in the plasminogen gene, within the plasminogen kringle 3 domain, in hereditary angioedema with normal C1 inhibitor.
Dewald G.;
Biochem. Biophys. Res. Commun. 498:193-198(2018)
Cited for: VARIANT HAE4 GLU-330; INVOLVEMENT IN HAE4; Deciphering the genetics of primary angioedema with normal levels of C1 inhibitor.
Loules G.; Parsopoulou F.; Zamanakou M.; Csuka D.; Bova M.; Gonzalez-Quevedo T.; Psarros F.; Porebski G.; Speletas M.; Firinu D.; Del Giacco S.; Suffritti C.; Makris M.; Vatsiou S.; Zanichelli A.; Farkas H.; Germenis A.E.;
J. Clin. Med. 9:0-0(2020)
Cited for: VARIANTS HAE4 GLU-330 AND GLU-728; VARIANT LYS-89; Screening for plasminogen mutations in hereditary angioedema patients.
Farkas H.; Doczy A.; Szabo E.; Varga L.; Csuka D.;
Genes (Basel) 12:0-0(2021)
Cited for: VARIANT HAE4 GLU-330;
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.