Application | Comment | Organism |
---|---|---|
medicine | inherited deficiency leads to homocystinura, a disease of sulfur metabolism characterized by increased levels of homocysteine and methionine and decreased levels of cysteine | Homo sapiens |
Cloned (Comment) | Organism |
---|---|
- |
Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
A114V | mutation in dimer interface of patients with homocystinurea, variable amounts of residual activity | Homo sapiens |
A114V | mutation in the heme binding site of patients with homocystinurea | Homo sapiens |
A226T | mutation in the connecting loop between the N- and C-terminal domain between beta-strand 7 and alpha-helix 6, patients respond to vitamin B6 treatment | Homo sapiens |
A331V | mutation effects can be suppressed in a yeast assay by the deletion of the regulatory domain of the protein | Homo sapiens |
E176K | mutation in dimer interface of patients with homocystinurea | Homo sapiens |
E176K | mutation in dimer interface of patients with homocystinurea, patients do not respond to vitamin B6 treatment, mutant forms high molecular wight aggregates devoid of heme after expression in Escherichia coli | Homo sapiens |
G116R | mutation in dimer interface of patients with homocystinurea | Homo sapiens |
G148R | active site mutation in patients with homocystinurea | Homo sapiens |
G259S | active site mutation in patients with homocystinurea | Homo sapiens |
G305R | active site mutation in patients with homocystinurea | Homo sapiens |
G307S | active site mutation in patients with homocystinurea | Homo sapiens |
I278T | located in the middle of beta-strand 9 and the beta-sheet of the C-terminal domain, effects of this mutation can be suppressed when expressed in yeast by certain point mutations in the regulatory domain or by complete deletion of the C-terminal region | Homo sapiens |
N228K | active site mutation in patients with homocystinurea | Homo sapiens |
N228S | active site mutation in patients with homocystinurea | Homo sapiens |
P78R | mutation in dimer interface of patients with homocystinurea | Homo sapiens |
P88S | mutation in dimer interface of patients with homocystinurea | Homo sapiens |
R224H | mutation in the connecting loop between the N- and C-terminal domain between beta-strand 7 and alpha-helix 6, patients respond to vitamin B6 treatment | Homo sapiens |
R336C | mutation causes a mild disease type | Homo sapiens |
R336C | mutation in dimer interface of patients with homocystinurea | Homo sapiens |
R336H | mutation causes a mild disease type | Homo sapiens |
R336H | mutation in dimer interface of patients with homocystinurea | Homo sapiens |
R58W | mutation in the heme binding site of patients with homocystinurea, reduced ability to bind heme | Homo sapiens |
S352N | patients with this mutation are not vitamin B6 responsive | Homo sapiens |
T257M | active site mutation in patients with homocystinurea | Homo sapiens |
T353M | mutation effects can be suppressed in a yeast assay by the deletion of the regulatory domain of the protein, patients with this mutation are not vitamin B6 responsive | Homo sapiens |
V180A | mutation in dimer interface of patients with homocystinurea | Homo sapiens |
V354M | patients with this mutation are not vitamin B6 responsive | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
patients with homocystinuria | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
L-Serine + homocysteine | - |
Homo sapiens | Cystathionine + H2O | - |
? |