Variant position: 49 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 KPSGYGKHTESLKPAATRLP ARAAWFLQELPSFAVPAGILA
Mouse KPASYGKHSESVSSGVPLLP ARIAWFLQELPSFVVSVGMLA
Rat KPASYGKHTESVSSGVPFLP ARIAWFLQELPSFVVSVGMLA
Pig EPSGYGKYTESLTPAAIRLP ARAAWFLQELPSFVVPAGILA
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
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-49; LEU-89 AND VAL-113;
Association of mis-sense substitution in SRD5A2 gene with prostate cancer in African-American and Hispanic men in Los Angeles, USA.
Makridakis N.M.; Ross R.K.; Pike M.C.; Crocitto L.E.; Kolonel L.N.; Pearce C.L.; Henderson B.E.; Reichardt J.K.V.;
Cited for: VARIANT THR-49; POLYMORPHISM;
Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II.
Makridakis N.M.; di Salle E.; Reichardt J.K.;
Cited for: VARIANTS ARG-5; LEU-30; ARG-48; THR-49; THR-51; LEU-89; MET-187; LEU-194 AND LEU-234; VARIANT PPSH GLN-227; FUNCTION; CATALYTIC ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES;
Comprehensive evaluation of the association between prostate cancer and genotypes/haplotypes in CYP17A1, CYP3A4, and SRD5A2.
Loukola A.; Chadha M.; Penn S.G.; Rank D.; Conti D.V.; Thompson D.; Cicek M.; Love B.; Bivolarevic V.; Yang Q.; Jiang Y.; Hanzel D.K.; Dains K.; Paris P.L.; Casey G.; Witte J.S.;
Eur. J. Hum. Genet. 12:321-332(2004)
Cited for: VARIANT THR-49; LACK OF ASSOCIATION WITH PROSTATE CANCER;
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;
New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.
Hackel C.; Oliveira L.E.; Ferraz L.F.; Tonini M.M.; Silva D.N.; Toralles M.B.; Stuchi-Perez E.G.; Guerra-Junior G.;
J. Mol. Med. 83:569-576(2005)
Cited for: VARIANTS PPSH ARG-126; ARG-158; SER-183; SER-196; ASP-207 AND TRP-246; VARIANTS THR-49 AND LEU-89;
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.