K251X |
naturally occurring mutation in gene SPR, exon 3, causing enzyme deficiency |
Homo sapiens |
additional information |
identification of different mutant alleles or molecular lesions of enzymes, involved in the tetrahydrobiopterin metabolism, leading to disorders, SPR deficiency causes an autosomal recessive monoamine neurotransmitter deficiency, mutations occur in exons 2 and 3, in intron 2, and in the 5'-UTR, overview |
Homo sapiens |
P163L |
naturally occurring mutation in gene SPR, exon 2, causing enzyme deficiency |
Homo sapiens |
Q119X |
naturally occurring mutation in gene SPR, exon 2, causing enzyme deficiency |
Homo sapiens |
R150fs |
naturally occurring mutation in gene SPR, exon 2, causing enzyme deficiency |
Homo sapiens |
R150G |
naturally occurring mutation in gene SPR, exon 2, causing enzyme deficiency |
Homo sapiens |