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UniProtKB/Swiss-Prot P08686: Variant p.Ser202Gly

Steroid 21-hydroxylase
Gene: CYP21A2
Chromosomal location: 6p21.3
Variant information

Variant position:  202
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Serine (S) to Glycine (G) at position 202 (S202G, p.Ser202Gly).
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 glycine (G)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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

Polymorphism:  Seven non deleterious alleles are known: CYP21A2*1A, CYP21A2*1B, CYP21A2*2, CYP21A2*3, CYP21A2*4, CYP21A2*5 and CYP21A2*6. The sequence shown corresponds to allele CYP21A2*1B. Deleterious alleles are mostly generated by recombinations between CYP21A2 and the pseudogene CYP21A1P through gene conversion. This process consists of recombination events that either delete CYP21A2 or transfer deleterious mutations from CYP21A1P to CYP21A2.
Additional information on the polymorphism described.

Variant description:  Decreased steroid 21-monooxygenase activity.
Any additional useful information about the variant.

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



Sequence information

Variant position:  202
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  494
The length of the canonical sequence.

Location on the sequence:   KDDNLMPAYYKCIQEVLKTW  S HWSIQIVDVIPFLRFFPNPG
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                         KDDNLMPAYYKCIQEVLKTWSHWSIQIVDVIPFLRFFPNPG

                              -EDTLVHTFHDCVQDLMRTWEHWSIQMLDIIPFLRFFPNPG

Mouse                         -DSTLVQTLHDCVQDLLQAWNHWSIQILTIIPLLRFLPNPG

Rat                           QDSTLLNATHSCVRDLLKAWNHWSVQILDIIPFLRFFPNPG

Pig                           -EDTLVHALHDCVQDLMKTWEHWSIQILDMVPFLRFFPSPG

Bovine                        -EDTLVHAFHDCVQDLMKTWDHWSIQILDMVPFLRFFPNPG

Cat                           -EDTLVHAFHDCVEDLMKSWEHWSIQVLDIVPFLRFFPNPG

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 – 494 Steroid 21-hydroxylase


Literature citations

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-12; PHE-113; 389-GLN--ALA-391 DEL AND PRO-450; VARIANTS CYS-16; GLY-202; LEU-267 AND MET-450; CHARACTERIZATION OF VARIANTS AH3 MET-12; PHE-113; 389-GLN--ALA-391 DEL; PRO-450 AND SER-482; CHARACTERIZATION OF VARIANTS CYS-16; GLY-202; LEU-267 AND MET-450; 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.