Literature summary for 3.4.24.87 extracted from

Palla, R.; Lavoretano, S.; Lombardi, R.; Garagiola, I.; Karimi, M.; Afrasiabi, A.; Ramzi, M.; De Cristofaro, R.; Peyvandi, F.
The first deletion mutation in the TSP1-6 repeat domain of ADAMTS13 in a family with inherited thrombotic thrombocytopenic purpura (2009), Haematologica, 94, 289-293.

Search for more literature for 3.4.24.87

Cloned(Commentary)

Cloned (Comment)	Organism
ADAMTS13 DNA and amino acid sequence determination and analysis of wild-type and mutant enzymes, genotyping and expression analysis in HEK-293 cells, overview	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
C977W	deletion of 6 nucleotides GTGCCC at position 2930-2935, i.e. c.2930_2935del GTGCCC, in exon 23, leading to the replacement of Cys977 residue by a Trp	Homo sapiens
additional information	identification of a deletion of two amino acids Ala978 and Arg979, i.e. p.C977W+p.A978_R979del, in the TSP1-6 repeat domain of ADAMTS13 in a family with inherited thrombotic thrombocytopenic purpura. Three common ADAMTS13 intragenic SNPs p.R7W, p.Q448E and p.P618A are also identified in heterozygous state in paternal alleles (I:2) and also in II:5 and II:8.	Homo sapiens
P618A	naturally occuring mutation of ADAMTS13 involved in inherited thrombotic thrombocytopenic purpura	Homo sapiens
Q448E	naturally occuring mutation of ADAMTS13 involved in inherited thrombotic thrombocytopenic purpura	Homo sapiens
R7W	naturally occuring mutation of ADAMTS13 involved in inherited thrombotic thrombocytopenic purpura	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
extracellular	-	Homo sapiens	-	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
plasma	-	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
ADAMTS13	-	Homo sapiens

General Information

General Information	Comment	Organism
physiological function	deletion mutation in the TSP1-6 repeat domain of inherited ADAMTS13 deficiency, which is usually associated with severe forms of thrombotic thrombocytopenic purpura	Homo sapiens

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Release 2023.1 (January 2023)