Sequence information
Variant position: 222 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 372 The length of the canonical sequence.
Location on the sequence:
NEALNNNGILSSVGKFSTVN
P VYVGNVAWAHILALRALRDP
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 NEALNNNGILSSVGKFSTVNP VYVGNVAWAHILALRALRDP
Mouse IMALKHKGILRSFGKFNTANP VYVGNVAWAHILAARGLRDP
Rat IMALKNKGVLNVTGKFSIVNP VYVGNVAWAHILAARGLRDP
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
1 – 372
3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2
Alternative sequence
103 – 222
GTQLLLEACVQASVPVFIYTSSIEVAGPNSYKEIIQNGHEEEPLENTWPTPYPYSKKLAEKAVLAANGWNLKNGDTLYTCALRPTYIYGEGGPFLSASINEALNNNGILSSVGKFSTVNP -> ELQNKIKLTVLEGDILDEPFLKRACQDVSVVIHTACIIDVFGVTHRQSIMNVNVKGRVAWGGDKARWGNEDQKEGQEGKRSLSIEHLLCSGPSDFADHYQLGELKAAIFSFIDEKTRTEQ. In isoform 2.
Literature citations
A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3-beta-hydroxysteroid dehydrogenase (3-beta-HSD) gene causing, respectively, nonclassic and classic 3-beta-HSD deficiency congenital adrenal hyperplasia.
Pang S.; Wang W.; Rich B.; David R.; Chang Y.T.; Carbunaru G.; Myers S.E.; Howie A.F.; Smillie K.J.; Mason J.I.;
J. Clin. Endocrinol. Metab. 87:2556-2563(2002)
Cited for: VARIANTS AH2 LYS-142 AND THR-222;
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.