EC Number   |
Protein Variants |
Reference |
|---|
    1.14.16.4 | A218C |
a naturally occuring polymorphism associated with borderline personality disorder diagnosis, but not with suicidal behaviour, genotyping, overview |
684286 |
| 1.14.16.4 | A218C |
interaction between gene TPH1 218Ato C or rs1800532 polymorphism and gender in determining plasma TRP whereby presence of the 218C allele, in women, is associated with markedly reduced plasma tryptophan levels, overview |
687220 |
| 1.14.16.4 | A328V |
moderate loss-of-function effects in the catalytic and oligomerization domains |
703971 |
| 1.14.16.4 | A779C |
naturally occuring polymorphism in intron 7 of TPH1 is associated with alcoholic offenders |
689062 |
| 1.14.16.4 | C110S/C112S |
all cysteine residues of the regulatory domain mutated |
715983 |
| 1.14.16.4 | C110S/C112S/C162S/C234S/C248S/C296S |
six N-terminal-most cysteines mutated |
715983 |
| 1.14.16.4 | C110S/C112S/C162S/C234S/C248S/C296S/C315S/C355S/C365S/C394S/C404S/C408S/C476S |
all 13 cysteine residues mutated |
715983 |
| 1.14.16.4 | C110S/C162S/C234S/C248S/C296S/C355S/C365S/C394S/C404S/C408S/C476S |
mutant protein containing a single cysteine residue within the regulatory domain (Cys112) and within the catalytic core domain (Cys315) |
715983 |
| 1.14.16.4 | C1473G |
naturally occuring polymorphism of gene Tph2, C57Bl/6 and 129X1/SvJ mice are homozygous for the 1473C allele, whereas DBA/2 and BALB/cJ mice are homozygous for the 1473G allele, comparison of pulmonary hypertension and vascular remodeling of haplotypes, overview |
684359 |
| 1.14.16.4 | C162S/C234S/C248S/C296S/C315S/C355S/C365S/C394S/C404S/C408S/C476S |
all cysteine residues of the catalytic core domain mutated |
715983 |
