UniProtKB/SwissProt variant VAR

Variant information

Variant position:

483

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 Arginine (R) to Proline (P) at position 483 (R483P, p.Arg483Pro).

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 large size and basic (R) to medium size and hydrophobic (P)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-2

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 AH3; moderate; 1-2% of activity.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs200005406 [ dbSNP | Ensembl ]

Sequence information

Variant position:

483

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:

PLPHCSVILKMQPFQVRLQP R GMGAHSPGQNQ

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                         PLPHCSVILKMQPFQVRLQPRGMGAHSPGQNQ---

Mouse                         PQPYAGINLPIPPFQVRLQPRNLAPQDQGERP

Rat                           PLPYTGINLLIPPFQVRLQPRNLAPQDQGQKS

Pig                           PHPHSGINLKVQPFQVRLQPRGGRGEGPGPR-

Bovine                        PDPYCGVNLKVQPFQVRLQPRGVEA-GAWESA

Cat                           PRSHCGINLTMQPFQVRLQPRGAVAPGPSQHQ

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.

Type	Positions	Description
Chain	1 – 494	Steroid 21-hydroxylase

Literature citations

Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene.
Wedell A.; Luthman H.;
Hum. Genet. 91:236-240(1993)
Cited for: VARIANT AH3 PRO-483;

Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency.
Barbat B.; Bogyo A.; Raux-Demay M.-C.; Kuttenn F.; Boue J.; Simon-Bouy B.; Serre J.-L.; Boue A.; Mornet E.;
Hum. Mutat. 5:126-130(1995)
Cited for: VARIANTS AH3 ASN-172; ASN-236; LEU-281 AND PRO-483; VARIANT SER-493;

Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stability.
Nikoshkov A.; Lajic S.; Vlamis-Gardikas A.; Tranebjaerg L.; Holst M.; Wedell A.; Luthman H.;
J. Biol. Chem. 273:6163-6165(1998)
Cited for: VARIANTS AH3 GLU-196 DEL; SER-291 AND PRO-483;

Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore.
Loke K.Y.; Lee Y.S.; Lee W.W.R.; Poh L.K.S.;
Horm. Res. 55:179-184(2001)
Cited for: VARIANTS AH3 LEU-30; ASN-172; PRO-261; TRP-356 AND PRO-483;

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-30; ASN-172; LEU-281; SER-291; TRP-356; SER-424; HIS-426; SER-453 AND PRO-483; CHARACTERIZATION OF VARIANT AH3 HIS-426;

Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management.
Pinto G.; Tardy V.; Trivin C.; Thalassinos C.; Lortat-Jacob S.; Nihoul-Fekete C.; Morel Y.; Brauner R.;
J. Clin. Endocrinol. Metab. 88:2624-2633(2003)
Cited for: VARIANTS AH3 LEU-30; LEU-62; ASN-172; LEU-281; PRO-341; TRP-356; SER-453 AND PRO-483;

Detection and assignment of CYP21 mutations using peptide mass signature genotyping.
Zeng X.; Witchel S.F.; Dobrowolski S.F.; Moulder P.V.; Jarvik J.W.; Telmer C.A.;
Mol. Genet. Metab. 82:38-47(2004)
Cited for: VARIANTS AH3 LEU-30; ASN-172; ASN-236; GLU-237; LYS-239; LEU-281; SER-291; GLN-356; TRP-356; TYR-365; SER-453; LEU-479 AND PRO-483; VARIANT ARG-102;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08686: Variant p.Arg483Pro