Variant position: 246 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 254 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 LRAFHHHRFYLKMFEDYPKS RKALIPFIF
Mouse MQAFYHHRFYLKMFKDYPKS RKALIPFIF
Rat MQAFYHHRFYLKMFKDYPKS RKALIPFIF
Pig LRAFHHHRFYVKMFEDYPKS RKALIPFIF
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 – 254 3-oxo-5-alpha-steroid 4-dehydrogenase 2
Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency.
Vilchis F.; Mendez J.P.; Canto P.; Lieberman E.; Chavez B.;
Clin. Endocrinol. (Oxf.) 52:383-387(2000)
Cited for: VARIANTS PPSH ASP-85; ASP-115; ARG-212; TYR-245 AND GLN-246;
SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects.
Nicoletti A.; Baldazzi L.; Balsamo A.; Barp L.; Pirazzoli P.; Gennari M.; Radetti G.; Cacciari E.; Cicognani A.;
Clin. Endocrinol. (Oxf.) 63:375-380(2005)
Cited for: VARIANTS PPSH TRP-145; LEU-181; SER-196; PHE-235 AND GLN-246; VARIANTS THR-49 AND LEU-89;
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