Variant position: 115 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 TFVYSLLNRGRPYPAILILR GTAFCTGNGVLQGYYLIYCAE
Mouse TFIYSLLTRGRPLSAVIFLK ATAFCIGNGLLQAYYLVYCAE
Rat TFIYSLLTRGRPFPAVLFLR ATAFCIGNGLLQAYYLVYCAE
Pig TFVYSLLTRGRPFPVVFLFR GFVFCMGNGLLQGYYLVYCAE
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
5-alpha-reductase-2 gene mutations in the Dominican Republic.
Cai L.-Q.; Zhu Y.-S.; Katz M.D.; Herrera C.; Baez J.; DeFillo-Ricart M.; Shackleton C.H.L.; Imperato-McGinley J.;
J. Clin. Endocrinol. Metab. 81:1730-1735(1996)
Cited for: VARIANTS PPSH ASP-115; SER-183 AND TRP-246;
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;
Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene.
Fernandez-Cancio M.; Rodo J.; Andaluz P.; Martinez de Osaba M.J.; Rodriguez-Hierro F.; Esteban C.; Carrascosa A.; Audi L.;
Horm. Res. 62:259-264(2004)
Cited for: VARIANTS PPSH ASP-115 AND TRP-246;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.