UniProtKB/Swiss-Prot P10275 : Variant p.Val867Leu
Androgen receptor
Gene: AR
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Variant information
Variant position:
867
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
LP/P [Disclaimer : Variants classification is intended for research purposes only, not for clinical and diagnostic use . The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant. ]
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 Leucine (L) at position 867 (V867L, p.Val867Leu).
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
Variant description:
In PAIS.
Any additional useful information about the variant.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
867
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:
RKNPTSCSRRFYQLTKLLDS
V QPIARELHQFTFDLLIKSHM
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 RKNPTSCSRRFYQLTKLLDSV QPIARELHQFTFDLLIKSHM
RKNPTSCSRRFYQLTKLLDSV QPIARELHQFTFDLLIKSHM
Rhesus macaque RKNPTSCSRRFYQLTKLLDSV QPIARELHQFTFDLLIKSHM
Chimpanzee RKNPTSCSRRFYQLTKLLDSV QPIARELHQFTFDLLIKSHM
Mouse RKNPTSCSRRFYQLTKLLDSV QPIARELHQFTFDLLIKSHM
Rat RKNPTSCSRRFYQLTKLLDSV QPIARELHQFTFDLLIKSHM
Pig RKNPTSCSRRFYQLTKLLDSV QPIARELHQFTFDLLIKSHM
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
878 – 878
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
848 – 848
K -> R. Partially prevents ubiquitination by RNF6.
Helix
850 – 883
Literature citations
Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome.
Saunders P.T.; Padayachi T.; Tincello D.G.; Shalet S.M.; Wu F.C.;
Clin. Endocrinol. (Oxf.) 37:214-220(1992)
Cited for: VARIANTS PAIS LYS-609 AND LEU-867;
Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy.
Hiort O.; Huang Q.; Sinnecker G.H.; Sadeghi-Nejad A.; Kruse K.; Wolfe H.J.; Yandell D.W.;
J. Clin. Endocrinol. Metab. 77:262-266(1993)
Cited for: VARIANTS AIS LYS-682 AND THR-843; VARIANTS PAIS HIS-841 AND LEU-867;
Substitution of valine-865 by methionine or leucine in the human androgen receptor causes complete or partial androgen insensitivity, respectively with distinct androgen receptor phenotypes.
Kazemi-Esfarjani P.; Beitel L.K.; Trifiro M.A.; Kaufman M.; Rennie P.; Sheppard P.; Matusik R.; Pinsky L.;
Mol. Endocrinol. 7:37-46(1993)
Cited for: VARIANT AIS MET-867; VARIANT PAIS LEU-867;
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.