Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P37058: Variant p.Ser232Leu

17-beta-hydroxysteroid dehydrogenase type 3
Gene: HSD17B3
Feedback?
Variant information Variant position: help 232 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Serine (S) to Leucine (L) at position 232 (S232L, p.Ser232Leu). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from small size and polar (S) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In MPH; almost complete loss of testosterone 17-beta-dehydrogenase (NADP(+)) activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 232 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 310 The length of the canonical sequence.
Location on the sequence: help LQEEYKAKEVIIQVLTPYAV S TAMTKYLNTNVITKTADEFV 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LQEEYKAKEVIIQVLTPYAVSTAMTKYLNTNVITKTADEFV

Mouse                         LSVEYRDKGIIIQVLTPYSISTPMTKYLN-NKMTKTADEFV

Rat                           LNVEYRDKGIIIQVLTPYSVSTPMTKYLNTSRVTKTADEFV

Zebrafish                     LQAEYISKGIIIQTVAPFGVSTAMTGHQKPDMVTFTAEEFV
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 310 17-beta-hydroxysteroid dehydrogenase type 3
Alternative sequence 225 – 274 Missing. In isoform 2.



Literature citations
Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3.
Geissler W.M.; Davis D.L.; Wu L.; Bradshaw K.D.; Patel S.; Mendonca B.B.; Elliston K.O.; Wilson J.D.; Russell D.W.; Andersson S.;
Nat. Genet. 7:34-39(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS MPH GLN-80; VAL-203; LEU-232 AND VAL-235; FUNCTION; CATALYTIC ACTIVITY; CHARACTERIZATION OF VARIANTS MPH GLN-80; VAL-203; LEU-232 AND VAL-235; TISSUE SPECIFICITY; INVOLVEMENT IN MPH;
Disclaimer: 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.