Variant position: 121 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 TLDIASNNRKGIAFADSGAH WQLHRRLAMATFALFKDGDQK
Rhesus macaque TLDILSNNRKGIAFADYGAH WQLHRRLAMATFALFKDGDQK
Chimpanzee TLDIASNNRKGIAFADSGAH WQLHRRLAMATFALFKDGDQK
Mouse TLGLLSDQGKGVAFADSSSS WQLHRKLVFSTFSLFRDD-QK
Rat TQSLLSDQGKGVAFADAGSS WHLHRKLVFSTFSLFKDG-QK
Pig TLDILSDNQKGIAFADHGTS WQLHRKLALSTFSLFKGGNLK
Bovine TLDILSDNQKGIAFADHGAH WQLHRKLALNAFALFKDGNLK
Goat TLDILSDNQKGIAFADHGAH WQLHRKLVLNAFALFKDGNLK
Sheep TLDILSDNQKGIAFADHGAH WQLHRKLVLNAFALFKDGNLK
Cat TLDILSDNQKGIAFADHGAS WQMHRKLALATFALFKDGDQR
Horse TLNILSDNQKGVAFADHGAP WQLHRKLVRAAFALFKDGNQK
Chicken TTDLLSRGGKDIAFASYGPL WKFQRKLVHAALSMFGEGSVA
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.
119 – 131
Partial deficiency of 17alpha-hydroxylase/17,20-lyase caused by a novel missense mutation in the canonical cytochrome heme-interacting motif.
Rubtsov P.; Nizhnik A.; Dedov I.I.; Kalinchenko N.; Petrov V.; Orekhova A.; Spirin P.; Prassolov V.; Tiulpakov A.;
Eur. J. Endocrinol. 172:K19-25(2015)
Cited for: VARIANT AH5 ARG-121; CHARACTERIZATION OF VARIANT AH5 ARG-121;
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.