Variant position: 93 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 508 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 TVIVGHHQLAKEVLIKKGKD FSGRPQMATLDIASNNRKGIA
Rhesus macaque TVIVGHHQLAKEVLIKKGKD FSGRPQVTTLDILSNNRKGIA
Chimpanzee TVIVGHHQLAKEVLIKKGKD FSGRPQMATLDIASNNRKGIA
Mouse AVIVGHYQLAREVLVKKGKE FSGRPQMVTLGLLSDQGKGVA
Rat TVIIGHYQLAREVLIKKGKE FSGRPQMVTQSLLSDQGKGVA
Pig TVVIGDHQLAKEVLLKKGKE FSGRPRVMTLDILSDNQKGIA
Bovine TVMIGHHQLAREVLLKKGKE FSGRPKVATLDILSDNQKGIA
Goat TVMIGHHQLAREVLLKKGKE FSGRPKVATLDILSDNQKGIA
Sheep TVMIGHHQLAREVLLKKGKE FSGRPKVATLDILSDNQKGIA
Cat TVMVGDHQLAKEVLVKKGKE FSGRPHVVTLDILSDNQKGIA
Horse TVMVGHYQLAKEVLIKKGKE FSGRPQVATLNILSDNQKGVA
Chicken VVVVNSYQHAREVLLKKGKA FAGRPRTVTTDLLSRGGKDIA
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 – 508 Steroid 17-alpha-hydroxylase/17,20 lyase
105 – 105 A -> L. Increases the affinity for progesterone, resulting in preferential hydroxylation of progesterone at C17 over C16; increases the catalytic efficiency in the 17,20 lyase reaction.
90 – 93
Combined 17alpha-hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene.
Di Cerbo A.; Biason-Lauber A.; Savino M.; Piemontese M.R.; Di Giorgio A.; Perona M.; Savoia A.;
J. Clin. Endocrinol. Metab. 87:898-905(2002)
Cited for: VARIANT AH5 CYS-93;
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