Variant position: 89 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 ARQPLSLFGPPGTVLLGLFC VHYFHRTFVYSLLNRGRPYPA
Mouse AWQPRSLFGPPGNVLLGLFS AHYFHRTFIYSLLTRGRPLSA
Rat AWQPRSLFGPPGNVLLALFS AHYFHRTFIYSLLTRGRPFPA
Pig AGQPRSLFGPPATVLLGLFC AHYFHRTFVYSLLTRGRPFPV
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
72 – 92 Helical
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT LEU-89;
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-49; LEU-89 AND VAL-113;
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT LEU-89;
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;
Steroid 5-alpha reductase type II V89L substitution is not associated with risk of prostate cancer in a multiethnic population study.
Pearce C.L.; Makridakis N.M.; Ross R.K.; Pike M.C.; Kolonel L.N.; Henderson B.E.; Reichardt J.K.V.;
Cancer Epidemiol. Biomarkers Prev. 11:417-418(2002)
Cited for: VARIANT LEU-89;
Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients.
Sasaki G.; Ogata T.; Ishii T.; Kosaki K.; Sato S.; Homma K.; Takahashi T.; Hasegawa T.; Matsuo N.;
J. Clin. Endocrinol. Metab. 88:3431-3436(2003)
Cited for: VARIANT PPSH GLN-227; VARIANT LEU-89;
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.