UniProtKB/SwissProt variant VAR

Variant information

Variant position:

712

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 Glutamine (Q) to Glutamate (E) at position 712 (Q712E, p.Gln712Glu).

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 medium size and polar (Q) to medium size and acidic (E)

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 PAIS.

Any additional useful information about the variant.

Sequence information

Variant position:

712

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

920

The length of the canonical sequence.

Location on the sequence:

NNQPDSFAALLSSLNELGER Q LVHVVKWAKALPGFRNLHVD

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                         NNQPDSFAALLSSLNELGERQLVHVVKWAKALPGFRNLHVD

                              NNQPDSFAALLSSLNELGERQLVHVVKWAKALPGFRNLHVD

Rhesus macaque                NNQPDSFAALLSSLNELGERQLVHVVKWAKALPGFRNLHVD

Chimpanzee                    NNQPDSFAALLSSLNELGERQLVHVVKWAKALPGFRNLHVD

Mouse                         NNQPDSFAALLSSLNELGERQLVHVVKWAKALPGFRNLHVD

Rat                           NNQPDSFAALLSSLNELGERQLVHVVKWAKALPGFRNLHVD

Pig                           NNQPDSFAALLSSLNELGERQLVHVVKWAKALPGFRNLHVD

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 – 920	Androgen receptor
Domain	669 – 900	NR LBD
Region	552 – 919	Interaction with LPXN
Region	592 – 919	Interaction with CCAR1
Region	625 – 919	Interaction with KAT7
Binding site	706 – 706	17beta-hydroxy-5alpha-androstan-3-one
Site	721 – 721	Interaction with coactivator LXXL and FXXFY motifs
Alternative sequence	645 – 920	Missing. In isoform 3.
Alternative sequence	649 – 920	Missing. In isoform 4.
Mutagenesis	702 – 702	L -> A. Alters receptor specificity, so that transcription is activated by the antiandrogen cyproterone acetate.
Mutagenesis	721 – 721	K -> A. Loss of transcription activation in the presence of androgen and of interaction with NCOA2.
Helix	698 – 721

Literature citations

Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.
Chavez B.; Mendez J.P.; Ulloa-Aguirre A.; Larrea F.; Vilchis F.;
J. Hum. Genet. 46:560-565(2001)
Cited for: VARIANTS PAIS THR-683 AND GLU-712; VARIANTS AIS GLU-744; VAL-828; ARG-875 AND TYR-880;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10275: Variant p.Gln712Glu