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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08686: Variant p.Pro483Ser

Steroid 21-hydroxylase
Gene: CYP21A2
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Variant information Variant position: help 483 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 Proline (P) to Serine (S) at position 483 (P483S, p.Pro483Ser). 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 medium size and hydrophobic (P) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In AH3; reduced enzyme activity to 70% of normal. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 483 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 495 The length of the canonical sequence.
Location on the sequence: help QPLPHCSVILKMQPFQVRLQ P RGMGAHSPGQSQ 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                         QPLPHCSVILKMQPFQVRLQPRG--MGAHSPGQSQ---

                              RPRARCGVNLSMQPFQVQLQPRG--AGVLGRGQ

Mouse                         QPQPYAGINLPIPPFQVRLQPRN--LAPQDQGE

Rat                           QPLPYTGINLLIPPFQVRLQPRN--LAPQDQGQ

Pig                           QPHPHSGINLKVQPFQVRLQPRG--GRGEGPGP

Bovine                        QPDPYCGVNLKVQPFQVRLQPRGVEAGAWESAS

Cat                           RPRSHCGINLTMQPFQVRLQPRG--AVAPGPSQ
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 – 495 Steroid 21-hydroxylase
Beta strand 479 – 483



Literature citations
Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia.
Barbaro M.; Lajic S.; Baldazzi L.; Balsamo A.; Pirazzoli P.; Cicognani A.; Wedell A.; Cacciari E.;
J. Clin. Endocrinol. Metab. 89:2402-2407(2004)
Cited for: VARIANTS AH3 THR-16; LEU-31; LEU-282 AND SER-483; CHARACTERIZATION OF VARIANTS AH3 THR-16 AND SER-483; Functional and structural consequences of nine CYP21A2 mutations ranging from very mild to severe effects.
de Paula Michelatto D.; Karlsson L.; Lusa A.L.; Silva C.D.; Oestberg L.J.; Persson B.; Guerra-Junior G.; de Lemos-Marini S.H.; Barbaro M.; de Mello M.P.; Lajic S.;
Int. J. Endocrinol. 2016:4209670-4209670(2016)
Cited for: VARIANTS AH3 MET-13; PHE-114; 390-GLN--ALA-392 DEL AND PRO-451; VARIANTS CYS-17; GLY-203; LEU-268 AND MET-451; CHARACTERIZATION OF VARIANTS AH3 MET-13; PHE-114; 390-GLN--ALA-392 DEL; PRO-451 AND SER-483; CHARACTERIZATION OF VARIANTS CYS-17; GLY-203; LEU-268 AND MET-451; FUNCTION; CATALYTIC ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES;
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.