UniProtKB/SwissProt variant VAR

Androgen receptor
Gene: AR
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Variant information Variant position:

832 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 Glutamine (Q) at position 832 (R832Q, p.Arg832Gln). 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 polar (Q) 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
Variant description:

In AIS; loss of androgen binding. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1386577803 [ dbSNP | Ensembl ]

Sequence information Variant position:

832 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:

LLFSIIPVDGLKNQKFFDEL R MNYIKELDRIIACKRKNPTS 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                         LLFSIIPVDGLKNQKFFDELRMNYIKELDRIIACKRKNPTS

                              LLFSIIPVDGLKNQKFFDELRMNYIKELDRIIACKRKNPTS

Rhesus macaque                LLFSIIPVDGLKNQKFFDELRMNYIKELDRIIACKRKNPTS

Chimpanzee                    LLFSIIPVDGLKNQKFFDELRMNYIKELDRIIACKRKNPTS

Mouse                         LLFSIIPVDGLKNQKFFDELRMNYIKELDRIIACKRKNPTS

Rat                           LLFSIIPVDGLKNQKFFDELRMNYIKELDRIIACKRKNPTS

Pig                           LLFSIIPVDGLKNQKFFDELRMNYIKELDRIIACKRKNPTS

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
Cross	846 – 846	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Cross	848 – 848	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Alternative sequence	645 – 920	Missing. In isoform 3.
Alternative sequence	649 – 920	Missing. In isoform 4.
Mutagenesis	846 – 846	K -> R. Prevents ubiquitination by RNF6. Prevents AR transcriptional activation by RNF14 in absence of hormone.
Mutagenesis	848 – 848	K -> R. Partially prevents ubiquitination by RNF6.
Helix	825 – 844

Literature citations
Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity.
Brown T.R.; Lubahn D.B.; Wilson E.M.; French F.S.; Migeon C.J.; Corfen J.L.;
Mol. Endocrinol. 4:1759-1772(1990)
Cited for: VARIANTS AIS CYS-775; GLN-832 AND MET-867; Characterization of alternative amino acid substitutions at arginine 830 of the androgen receptor that cause complete androgen insensitivity in three families.
Shkolny D.L.; Brown T.R.; Punnett H.H.; Kaufman M.; Trifiro M.A.; Pinsky L.;
Hum. Mol. Genet. 4:515-521(1995)
Cited for: VARIANTS AIS LEU-832 AND GLN-832; Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome.
Yaegashi N.; Uehara S.; Senoo M.; Sato J.; Fujiwara J.; Funato T.; Sasaki T.; Yajima A.;
Tohoku J. Exp. Med. 187:263-272(1999)
Cited for: VARIANTS AIS PHE-813 AND GLN-832;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10275: Variant p.Arg832Gln