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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08686: Variant p.Arg427His

Steroid 21-hydroxylase
Gene: CYP21A2
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Variant information Variant position: help 427 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 Arginine (R) to Histidine (H) at position 427 (R427H, p.Arg427His). 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 basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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
Variant description: help In AH3; loss of enzymatic activity toward 17-hydroxyprogesterone. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 427 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 PDRFLEPGKNSRALAFGCGA R VCLGEPLARLELFVVLTRLL 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                         PDRFLEPGKNSRALAFGCGARVCLGEPLARLELFVVLTRLL

                              PDRFLVPGASPRVLAFGCGARVCLGEPLARLELLVVLAQLL

Mouse                         PDRFLEPGKNPRTPSFGCGARVCLGEPLARLELFVVLARLL

Rat                           PDRFLESGKSPRIPTFGCGARVCLGEPLARLEFFVVLARLL

Pig                           PDRFLAPGANPSALAFGCGARVCLGEPLARLELFVVLVQLL

Bovine                        PDRFLEPGANPSALAFGCGARVCLGESLARLELFVVLLRLL

Cat                           PDRFLVPGASPRVLAFGCGARVCLGEPLARLELFVVLARLL
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
Binding site 427 – 427
Binding site 429 – 429 axial binding residue
Mutagenesis 429 – 429 C -> MST. Loss of progesterone 21-hydroxylase activity and loss of P450 absorption.
Helix 425 – 427



Literature citations
Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation.
Baumgartner-Parzer S.M.; Schulze E.; Waldhaeusl W.; Pauschenwein S.; Rondot S.; Nowotny P.; Meyer K.; Frisch H.; Waldhauser F.; Vierhapper H.;
J. Clin. Endocrinol. Metab. 86:4771-4775(2001)
Cited for: VARIANTS AH3 LEU-31; ASN-173; LEU-282; SER-292; TRP-357; SER-425; HIS-427; SER-454 AND PRO-484; CHARACTERIZATION OF VARIANT AH3 HIS-427; Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis.
Grischuk Y.; Rubtsov P.; Riepe F.G.; Groetzinger J.; Beljelarskaia S.; Prassolov V.; Kalintchenko N.; Semitcheva T.; Peterkova V.; Tiulpakov A.; Sippell W.G.; Krone N.;
J. Clin. Endocrinol. Metab. 91:4976-4980(2006)
Cited for: VARIANTS AH3 ARG-170; ARG-179; ARG-303 AND CYS-427; CHARACTERIZATION OF VARIANTS AH3 ARG-170; ARG-179; ARG-303; CYS-427 AND HIS-427; FUNCTION; CATALYTIC ACTIVITY; Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.
Tardy V.; Menassa R.; Sulmont V.; Lienhardt-Roussie A.; Lecointre C.; Brauner R.; David M.; Morel Y.;
J. Clin. Endocrinol. Metab. 95:1288-1300(2010)
Cited for: VARIANTS AH3 THR-78; PRO-168; ASN-173; THR-231; LYS-234; LEU-282; SER-292; ASP-293; LYS-321; PRO-342; HIS-355; TRP-357; TRP-370; CYS-409; SER-425; HIS-427 AND SER-454; CHARACTERIZATION OF VARIANTS AH3 PRO-168; ASN-173; LEU-282; ASP-293; LYS-321; TRP-370 AND SER-425;
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.