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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P05093: Variant p.Trp406Leu

Steroid 17-alpha-hydroxylase/17,20 lyase
Gene: CYP17A1
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Variant information Variant position: help 406 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Tryptophan (W) to Leucine (L) at position 406 (W406L, p.Trp406Leu). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and aromatic (W) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In AH5; complete loss of both 17alpha-hydroxylase and 17,20-lyase activities. Any additional useful information about the variant.


Sequence information Variant position: help 406 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 508 The length of the canonical sequence.
Location on the sequence: help VDKGTEVIINLWALHHNEKE W HQPDQFMPERFLNPAGTQLI 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         VDKGTEVIINLWALHHNEKEWHQPDQFMPERFLNPAGTQLI

Rhesus macaque                VDKGTHVIINLWALHHNEKEWHQPDQFMPERFLNPAGTQLI

Chimpanzee                    VDKGTQVIINLWALHHNEKEWHQPDQFMPERFLNPAGTQLI

Mouse                         IPKDTHVIINLWALHHDKNEWDQPDRFMPERFLDPTGSHLI

Rat                           VPKDTHVVVNLWALHHDENEWDQPDQFMPERFLDPTGSHLI

Pig                           IDKDTDVVVNLWALHHNEKEWHRPDLFMPERFLDPTGTQLI

Bovine                        IDKGTDVVVNLWALHHSEKEWQHPDLFMPERFLDPTGTQLI

Goat                          IDKGTDVVVNLWALHHNEKEWQQPDLFMPERFLDPTGTQLI

Sheep                         IDKGTDVVVNLWALHHNEKEWQQPDLFMPERFLDPTGTQLI

Cat                           VDKGTNVIINLWALHHNEKEWYRPDQFMPERFLDPTRSQLI

Horse                         VDDGTNVIINLWALHHNEKEWHQPDRFMPERFLDPTGSQLI

Chicken                       IPKGARVVINLWSVHHDEKEWDKPEEFNPGRFLDEQGQHIH
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 508 Steroid 17-alpha-hydroxylase/17,20 lyase
Beta strand 406 – 408



Literature citations
A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation.
Kim Y.M.; Kang M.; Choi J.H.; Lee B.H.; Kim G.H.; Ohn J.H.; Kim S.Y.; Park M.S.; Yoo H.W.;
Metabolism 63:42-49(2014)
Cited for: VARIANTS AH5 GLU-174; LEU-373 AND LEU-406; CHARACTERIZATION OF VARIANT AH5 LEU-406;
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.