UniProtKB/Swiss-Prot P08686: Variant p.Arg103Lys

Steroid 21-hydroxylase
Gene: CYP21A2
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Variant information Variant position:

103 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Lysine (K) at position 103 (R103K, p.Arg103Lys). 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:

Similar physico-chemical property. Both residues are large size and basic. 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
Polymorphism:

Several non deleterious alleles have been described including CYP21A2*1A, CYP21A2*1B, CYP21A2*2, CYP21A2*3, CYP21A2*4, CYP21A2*5 and CYP21A2*6. 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.
Other resources:

Links to websites of interest for the variant.

Variant rs6474 [ dbSNP | Ensembl ]

Sequence information Variant position:

103 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

495 The length of the canonical sequence.
Location on the sequence:

VKKWADFAGRPEPLTYKLVS R NYPDLSLGDYSLLWKAHKKL 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                         VKKWADFAGRPEPLTYKLVSRNYPDLSLGDYSLLWKAHKKL

                              VRKWVDFAGRPQTPSYKLVSLHHQDLSLGDYSLLWKAHKKL

Mouse                         IQKWVDFAGRPHMLNGKM----DLDLSLGDYSLMWKAHKKL

Rat                           IQKWVDFAGRPQILDGKM----NFDLSMGDYSLTWKAHKKL

Pig                           VRKWVDFAGRPQIPSYKLASQHCPDISLGDYSLFWKAHKKL

Bovine                        IRKWVDFAGRPQIPSYKLVSQRCQDISLGDYSLLWKAHKKL

Cat                           IRRWVDFAGRPQMPSYKLVSQHYQDLSLGDYSLLWKAHKKL

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 – 495	Steroid 21-hydroxylase
Binding site	92 – 92
Binding site	121 – 121
Beta strand	103 – 105

Literature citations
Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene.
Higashi Y.; Yoshioka H.; Yamane M.; Gotoh O.; Fujii-Kuriyama Y.;
Proc. Natl. Acad. Sci. U.S.A. 83:2841-2845(1986)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE CYP21A2*1A); VARIANTS LEU-6 DEL; LYS-103 AND ASN-494; Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia.
Rodrigues N.R.; Dunham I.; Yu C.Y.; Carroll M.C.; Porter R.R.; Campbell R.D.;
EMBO J. 6:1653-1661(1987)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT AH3 THR-269; VARIANTS LYS-103 AND ASN-494; INVOLVEMENT IN AH3; Linkage analysis of the C4A/C4B copy number variation and polymorphisms of the adjacent steroid 21-hydroxylase gene in a healthy population.
Blasko B.; Banlaki Z.; Gyapay G.; Pozsonyi E.; Sasvari-Szekely M.; Rajczy K.; Fust G.; Szilagyi A.;
Mol. Immunol. 46:2623-2629(2009)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS LEU-6 DEL; LYS-103 AND ASN-494; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT LYS-103; Molecular genetic analysis of patients carrying steroid 21-hydroxylase deficiency in the Mexican population: identification of possible new mutations and high prevalence of apparent germ-line mutations.
Ordonez-Sanchez M.L.; Ramirez-Jimenez S.; Lopez-Gutierrez A.U.; Riba L.; Gamboa-Cardiel S.; Cerrillo-Hinojosa M.; Altamirano-Bustamante N.; Calzada-Leon R.; Robles-Valdes C.; Mendoza-Morfin F.; Tusie-Luna M.T.;
Hum. Genet. 102:170-177(1998)
Cited for: VARIANTS ARG-99; LYS-103; GLU-184 AND ASN-494;

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.