UniProtKB/Swiss-Prot P08686: Variant p.Ala16Thr

Steroid 21-hydroxylase
Gene: CYP21A2
Feedback?

Variant information Variant position:

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

US 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 Alanine (A) to Threonine (T) at position 16 (A16T, p.Ala16Thr). 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 small size and hydrophobic (A) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

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:

In AH3; uncertain significance; salt wasting form; no significant difference in steroid 21-monooxygenase activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs63749090 [ dbSNP | Ensembl ]

Sequence information Variant position:

16 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:

MLLLGLLLLLPLLAG A RLLWNWWKLRSLHLPPLAPG 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                         MLLLG--LLLLLPLLAGARLLWNWWKLRSLHLPPLAPG

                              MLLLG---VLLLTVLAGARLLWGKWKLRGLHLPPLV

Mouse                         MLLPG--LLLLLLLLAGTRWLWGQWKLRKLHLPPLA

Rat                           MLLPGLLLLLLLLLLAGTRWLWGQWKLWKLRLPPLA

Pig                           MVLVW--LLLLLTLLAGARLLWGQWKLRNLHLPPLV

Bovine                        MVLAG--LLLLLTLLAGAHLLWGRWKLRNLHLPPLV

Cat                           MLLLG---LLLLTALAGARLLWNKWKYRSLHLPPLA

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

Literature citations
Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease.
Dolzan V.; Stopar-Obreza M.; Zerjav-Tansek M.; Breskvar K.; Krzisnik C.; Battelino T.;
Eur. J. Endocrinol. 149:137-144(2003)
Cited for: VARIANTS AH3 THR-16; LEU-31; ASN-173; LEU-282 AND SER-454; Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia.
Barbaro M.; Lajic S.; Baldazzi L.; Balsamo A.; Pirazzoli P.; Cicognani A.; Wedell A.; Cacciari E.;
J. Clin. Endocrinol. Metab. 89:2402-2407(2004)
Cited for: VARIANTS AH3 THR-16; LEU-31; LEU-282 AND SER-483; CHARACTERIZATION OF VARIANTS AH3 THR-16 AND SER-483;

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.