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UniProtKB/Swiss-Prot P05093: Variant p.Ser106Pro

Steroid 17-alpha-hydroxylase/17,20 lyase
Gene: CYP17A1
Variant information

Variant position:  106
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Serine (S) to Proline (P) at position 106 (S106P, p.Ser106Pro).
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:  Change from small size and polar (S) to medium size and hydrophobic (P)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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:  In AH5.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  106
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:   LIKKGKDFSGRPQMATLDIA  S NNRKGIAFADSGAHWQLHRR
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                         LIKKGKDFSGRPQMATLDIASNNRKGIAFADSGAHWQLHRR

Rhesus macaque                LIKKGKDFSGRPQVTTLDILSNNRKGIAFADYGAHWQLHRR

Chimpanzee                    LIKKGKDFSGRPQMATLDIASNNRKGIAFADSGAHWQLHRR

Mouse                         LVKKGKEFSGRPQMVTLGLLSDQGKGVAFADSSSSWQLHRK

Rat                           LIKKGKEFSGRPQMVTQSLLSDQGKGVAFADAGSSWHLHRK

Pig                           LLKKGKEFSGRPRVMTLDILSDNQKGIAFADHGTSWQLHRK

Bovine                        LLKKGKEFSGRPKVATLDILSDNQKGIAFADHGAHWQLHRK

Goat                          LLKKGKEFSGRPKVATLDILSDNQKGIAFADHGAHWQLHRK

Sheep                         LLKKGKEFSGRPKVATLDILSDNQKGIAFADHGAHWQLHRK

Cat                           LVKKGKEFSGRPHVVTLDILSDNQKGIAFADHGASWQMHRK

Horse                         LIKKGKEFSGRPQVATLNILSDNQKGVAFADHGAPWQLHRK

Chicken                       LLKKGKAFAGRPRTVTTDLLSRGGKDIAFASYGPLWKFQRK

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.

TypePositionsDescription
Chain 1 – 508 Steroid 17-alpha-hydroxylase/17,20 lyase
Mutagenesis 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.
Turn 106 – 109


Literature citations

Missense mutation serine106-->proline causes 17 alpha-hydroxylase deficiency.
Lin D.; Harikrishna J.A.; Moore C.C.D.; Jones K.L.; Miller W.L.;
J. Biol. Chem. 266:15992-15998(1991)
Cited for: VARIANT AH5 PRO-106;

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.