Variant position: 235 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 310 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 EYKAKEVIIQVLTPYAVSTA MTKYLNTNVITKTADEFVKES
Mouse EYRDKGIIIQVLTPYSISTP MTKYLN-NKMTKTADEFVKES
Rat EYRDKGIIIQVLTPYSVSTP MTKYLNTSRVTKTADEFVKES
Zebrafish EYISKGIIIQTVAPFGVSTA MTGHQKPDMVTFTAEEFVRSS
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 – 310 17-beta-hydroxysteroid dehydrogenase type 3
225 – 274 Missing. In isoform 2.
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;
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.