Variant position: 205 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 373 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human GANDPEKNFLTTAIRPHGIF GPRDPQLVPILIEAARNGKMK
Mouse DANDPKKNFLTAAIRPHGIF GPRDPQLVPILIDAARKGKMK
Rat DANDPKKNFLTAAIRPHGIF GPRDPQLVPVLIDAARKGKMK
Bovine GAHDPEKNFLTTAIRPHGIF GPRDPQLVPILIEAAKKGKMK
Slime mold ATQSSMSRMKTIVIRLPLVW GSRD-NVLDYLVGLCNKFQW-
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 373 Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.
Konig A.; Happle R.; Bornholdt D.; Engel H.; Grzeschik K.H.;
Am. J. Med. Genet. 90:339-346(2000)
Cited for: VARIANTS CHILD VAL-105 AND SER-205;
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