Sequence information
Variant position: 238 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 328 The length of the canonical sequence.
Location on the sequence:
QYLAHSKQVFREAAQNPEEV
A EVFLTALRAPKPTLRYFTTE
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 QYLAHSKQVFREAAQNPEEVA EVFLTALRAPKPTLRYFTTE
Chimpanzee QYLAHSKQVFREAAQNPEEVA EVFLTALRAPKPTLRYFTTE
Mouse HYLRGYEQALSEA-QDPEEVT ELFLTAMRAPQPALRYFSTN
Rat HYQRGYEQALSEA-QDPEEVT ELFLTAMRAPQPALRYFSTN
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
Chain
2 – 328
17-beta-hydroxysteroid dehydrogenase type 1
Mutagenesis
222 – 222
H -> A. No effect on conversion of estrone to 17beta-estradiol.
Helix
234 – 246
Literature citations
Detection of polymorphisms in the estradiol 17 beta-hydroxysteroid dehydrogenase II gene at the EDH17B2 locus on 17q11-q21.
Normand T.; Narod S.; Labrie F.; Simard J.;
Hum. Mol. Genet. 2:479-483(1993)
Cited for: VARIANTS VAL-238 AND SER-313;
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.