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