Protein Variants | Comment | Organism |
---|---|---|
L197P | the sequencing of the guanidinoacetate N-methyltransferase gene reveals a homozygous missense mutation on exon 6, resulting in the substitution of leucine in position 197 with proline. The 13-year old girl has mental retardation, as main symptom, associated with a typical pattern of biochemical and neurochemical alterations. | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
13 years old, female, L197P transition on exon 6 of the guanidinoacetate N-methyltransferase gene | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
blood plasma | L197P mutation in exon 6: guanidinoacetate increases to 33.6 microMol/l, creatine decreases to 24 microMol/l | Homo sapiens | - |
lymphoblast | L197P mutation in exon 6, reduces the activity of guanidinoacetate N-methyltransferase | Homo sapiens | - |
urine | L197P mutation in exon 6: guanidinoacetate increases to 2566 microMol/l, creatine decreases to 3.7 microMol/l | Homo sapiens | - |
Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
---|---|---|---|
additional information | - |
L197P transition in exon 6 reduces activity to 0.03 nMol creatine/mg/h, activity is assessed in lymphoblasts | Homo sapiens |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | since the L197P mutation in the exon 6 of the guanidinoacetate N-methyltransferase gene leaves the isoform B of the enzyme unaffected, the occurrence of biochemical alterations and disease in this subject testifies against the possibility that isoform B has guanidinoacetate N-methyltransferase activity | Homo sapiens | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
GAMT | - |
Homo sapiens |