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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08686: Variant p.His283Asn

Steroid 21-hydroxylase
Gene: CYP21A2
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Variant information Variant position: help 283 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 Histidine (H) to Asparagine (N) at position 283 (H283N, p.His283Asn). 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 Similar physico-chemical property. Both residues are medium size and polar. 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; exhibits low enzymatic activity toward 17-hydroxyprogesterone and progesterone. Any additional useful information about the variant.


Sequence information Variant position: help 283 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 QGVAQPSMEEGSGQLLEGHV H MAAVDLLIGGTETTANTLSW 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                         QGVAQPSMEEGSGQLLEGHVHMAAVDLLIGGTETTANTLSW

                              QRVGRLRAEEGCGQLLEGHVHMSVVDLFIGGTETTATTLSW

Mouse                         QGVEKQRDGKDEERLHEGHVHMSVVDLFIGGTETTATTLSW

Rat                           QGVEKQRDARDPGQLHERHVHMSVVDLFVGGTETTAATLSW

Pig                           QEAGRQRVEEGQGQLLEGHVHMSVVDLFIGGTETTANTLSW

Bovine                        QGVGRQRVEEGPGQLLEGHVHMSVVDLFIGGTETTASTLSW

Cat                           QGMGKPKVEKGHGRLLEGHVHMSVVDLFIGGTETTATTLSW

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
Mutagenesis 269 – 269 S -> CMT. No effect on progesterone 21-hydroxylase activity.
Mutagenesis 282 – 282 V -> I. Decreased 21-hydroxylase activity. Normal KM but 50% reduced Vmax.
Mutagenesis 282 – 282 V -> T. Decreased 21-hydroxylase activity. Normal KM but 10% reduced Vmax.
Helix 278 – 309



Literature citations
p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients.
Concolino P.; Mello E.; Patrosso M.C.; Penco S.; Zuppi C.; Capoluongo E.;
Metabolism 61:519-524(2012)
Cited for: VARIANTS AH3 HIS-192 AND ASN-283; CHARACTERIZATION OF VARIANTS AH3 HIS-192 AND ASN-283; 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.