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Literature summary for 3.4.24.87 extracted from

  • Lotta, L.A.; Garagiola, I.; Palla, R.; Cairo, A.; Peyvandi, F.
    ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura (2010), Hum. Mutat., 31, 11-19.
    View publication on PubMed
Search for more literature for 3.4.24.87

Cloned(Commentary)

Cloned (Comment) Organism
ADAMTS13 genotyping, overview Homo sapiens

Protein Variants

Protein Variants Comment Organism
A1033T naturally occuring mutation of ADAMTS13 Homo sapiens
A250V naturally occuring mutation of ADAMTS13 Homo sapiens
A596V naturally occuring mutation of ADAMTS13 Homo sapiens
A606P naturally occuring mutation of ADAMTS13 Homo sapiens
A732V naturally occuring mutation of ADAMTS13 Homo sapiens
A900V naturally occuring mutation of ADAMTS13 Homo sapiens
C1024G naturally occuring mutation of ADAMTS13 Homo sapiens
C1213Y naturally occuring mutation of ADAMTS13 Homo sapiens
C311Y naturally occuring mutation of ADAMTS13 Homo sapiens
C347S naturally occuring mutation of ADAMTS13 Homo sapiens
C508Y naturally occuring mutation of ADAMTS13 Homo sapiens
C758R naturally occuring mutation of ADAMTS13 Homo sapiens
C908S naturally occuring mutation of ADAMTS13 Homo sapiens
C908Y naturally occuring mutation of ADAMTS13 Homo sapiens
C951G naturally occuring mutation of ADAMTS13 Homo sapiens
D235H naturally occuring mutation of ADAMTS13 Homo sapiens
E627X naturally occuring mutation of ADAMTS13 Homo sapiens
E634K naturally occuring mutation of ADAMTS13 Homo sapiens
E740K naturally occuring mutation of ADAMTS13 Homo sapiens
G1239V naturally occuring mutation of ADAMTS13 Homo sapiens
G525D naturally occuring mutation of ADAMTS13 Homo sapiens
G982R naturally occuring mutation of ADAMTS13 Homo sapiens
H234Q naturally occuring mutation of ADAMTS13 Homo sapiens
H96D naturally occuring mutation of ADAMTS13 Homo sapiens
I1217T naturally occuring mutation of ADAMTS13 Homo sapiens
I178T naturally occuring mutation of ADAMTS13 Homo sapiens
I673F naturally occuring mutation of ADAMTS13 Homo sapiens
I79M naturally occuring mutation of ADAMTS13 Homo sapiens
L232Q naturally occuring mutation of ADAMTS13 Homo sapiens
additional information analysis of ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura, wide spectrum of clinical phenotype in congenital thrombotic thrombocytopenic purpura, overview Homo sapiens
P353L naturally occuring mutation of ADAMTS13 Homo sapiens
P457L naturally occuring mutation of ADAMTS13 Homo sapiens
P475S naturally occuring mutation of ADAMTS13 Homo sapiens
P618A naturally occuring mutation of ADAMTS13 Homo sapiens
P671L naturally occuring mutation of ADAMTS13 Homo sapiens
Q1302X naturally occuring mutation of ADAMTS13 Homo sapiens
Q448E naturally occuring mutation of ADAMTS13 Homo sapiens
Q449X naturally occuring mutation of ADAMTS13 Homo sapiens
Q44X naturally occuring mutation of ADAMTS13 Homo sapiens
Q456H naturally occuring mutation of ADAMTS13 Homo sapiens
Q929X naturally occuring mutation of ADAMTS13 Homo sapiens
R102C naturally occuring mutation of ADAMTS13 Homo sapiens
R1034X naturally occuring mutation of ADAMTS13 Homo sapiens
R1060W naturally occuring mutation of ADAMTS13 Homo sapiens
R1096H naturally occuring mutation of ADAMTS13 Homo sapiens
R1123C naturally occuring mutation of ADAMTS13 Homo sapiens
R1206X naturally occuring mutation of ADAMTS13 Homo sapiens
R1219W naturally occuring mutation of ADAMTS13 Homo sapiens
R1336W naturally occuring mutation of ADAMTS13 Homo sapiens
R193W naturally occuring mutation of ADAMTS13 Homo sapiens
R268P naturally occuring mutation of ADAMTS13 Homo sapiens
R349C naturally occuring mutation of ADAMTS13 Homo sapiens
R398H naturally occuring mutation of ADAMTS13 Homo sapiens
R484K naturally occuring mutation of ADAMTS13 Homo sapiens
R507Q naturally occuring mutation of ADAMTS13 Homo sapiens
R528G naturally occuring mutation of ADAMTS13 Homo sapiens
R625H naturally occuring mutation of ADAMTS13 Homo sapiens
R692C naturally occuring mutation of ADAMTS13 Homo sapiens
R7W naturally occuring mutation of ADAMTS13 Homo sapiens
R910X naturally occuring mutation of ADAMTS13 Homo sapiens
S119F naturally occuring mutation of ADAMTS13 Homo sapiens
S203P naturally occuring mutation of ADAMTS13 Homo sapiens
S263C naturally occuring mutation of ADAMTS13 Homo sapiens
S903L naturally occuring mutation of ADAMTS13 Homo sapiens
T1226I naturally occuring mutation of ADAMTS13 Homo sapiens
T196I naturally occuring mutation of ADAMTS13 Homo sapiens
T339R naturally occuring mutation of ADAMTS13 Homo sapiens
V604I naturally occuring mutation of ADAMTS13 Homo sapiens
V832M naturally occuring mutation of ADAMTS13 Homo sapiens
V88M naturally occuring mutation of ADAMTS13 Homo sapiens
W1016X naturally occuring mutation of ADAMTS13 Homo sapiens
W1245X naturally occuring mutation of ADAMTS13 Homo sapiens
W390C naturally occuring mutation of ADAMTS13 Homo sapiens
W390X naturally occuring mutation of ADAMTS13 Homo sapiens
Y304C naturally occuring mutation of ADAMTS13 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
-

Subunits

Subunits Comment Organism
More the multidomain ADAMTS13 contains the metalloprotease, the disintegrin, the TSP1-1, the cysteine-rich, the spacer, the TSP1-2, TSP1-3, TSP1-5, TSP1-6, TSP1-7, TSP1-8, CUB-1, and CUB-2 domains Homo sapiens

Synonyms

Synonyms Comment Organism
ADAMTS13
-
 Homo sapiens

General Information

General Information Comment Organism
physiological function ADAMTS13 mutations and polymorphisms are involved in congenital thrombotic thrombocytopenic purpura Homo sapiens