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Literature summary for 1.3.1.21 extracted from

  • Anstey, A.V.; Azurdia, R.M.; Rhodes, L.E.; Pearse, A.D.; Bowden, P.E.
    Photosensitive Smith-Lemli-Opitz syndrome is not caused by a single gene mutation: analysis of the gene encoding 7-dehydrocholesterol reductase in five U.K. families (2005), Br. J. Dermatol., 153, 774-779.
    View publication on PubMed

Application

Application Comment Organism
medicine mutational analysis of the DHCR7 gene in individuals from five families with Smith-Lemli-Opitz syndrome. No single mutation is responsible for the photosensitivity which characterizes Smith-Lemli-Opitz syndrome Homo sapiens

Protein Variants

Protein Variants Comment Organism
E448K natural mutation present in patient with Smith-Lemli-Opitz syndrome Homo sapiens
L99P natural mutation present in patient with Smith-Lemli-Opitz syndrome Homo sapiens
additional information splice site mutation at the intron 8 - exon 9 splice junction, natural mutation present in patient with Smith-Lemli-Opitz syndrome Homo sapiens
P51H natural mutation present in patient with Smith-Lemli-Opitz syndrome Homo sapiens
R540L natural mutation present in patient with Smith-Lemli-Opitz syndrome Homo sapiens
T93M natural mutation present in patient with Smith-Lemli-Opitz syndrome Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
patients with Smith-Lemli-Opitz syndrome
-