Cloned (Comment) | Organism |
---|---|
ADAMTS13 genotyping, overview | Homo sapiens |
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 | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
extracellular | - |
Homo sapiens | - |
- |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
plasma | - |
Homo sapiens | - |
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 | Comment | Organism |
---|---|---|
ADAMTS13 | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
physiological function | ADAMTS13 mutations and polymorphisms are involved in congenital thrombotic thrombocytopenic purpura | Homo sapiens |