UniProtKB/Swiss-Prot P08686: Variant p.Val305Met

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

305 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 Valine (V) to Methionine (M) at position 305 (V305M, p.Val305Met). 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 medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

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
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.
Variant description:

In hyperandrogenism; due to 21-hydroxylase deficiency; non-classic type; residual activity of 46% for conversion of 17-hydroxyprogesterone and 26% for conversion of progesterone compared with the normal enzyme. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs151344505 [ dbSNP | Ensembl ]

Sequence information Variant position:

305 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:

AAVDLLIGGTETTANTLSWA V VFLLHHPEIQQRLQEELDHE 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                         AAVDLLIGGTETTANTLSWAVVFLLHHPEIQQRLQEELDHE

                              SVVDLFIGGTETTATTLSWAVAFLLHHPEIQQRLQEELDRE

Mouse                         SVVDLFIGGTETTATTLSWAVAFLLHHPEIQKRLQEELDLK

Rat                           SVVDLFVGGTETTAATLSWAVAFLLHHPEIQKRLQEELDLK

Pig                           SVVDLFIGGTETTANTLSWAVVYLLHHPEIQWRLQEELDRE

Bovine                        SVVDLFIGGTETTASTLSWAVAFLLHHPEIQRRLQEELDRE

Cat                           SVVDLFIGGTETTATTLSWAVAFLLHHPEIQQRLQEELDCE

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
Helix	278 – 309

Literature citations
Novel mutations in CYP21 detected in individuals with hyperandrogenism.
Lajic S.; Clauin S.; Robins T.; Vexiau P.; Blanche H.; Bellanne-Chantelot C.; Wedell A.;
J. Clin. Endocrinol. Metab. 87:2824-2829(2002)
Cited for: VARIANTS HYPERANDROGENISM MET-305; SER-376 AND SER-454; CHARACTERIZATION OF VARIANTS HYPERANDROGENISM MET-305; SER-376 AND SER-454;

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.