UniProtKB/Swiss-Prot P10275: Variant p.Gln799Glu

Androgen receptor
Gene: AR
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Variant information Variant position:

799 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 Glutamine (Q) to Glutamate (E) at position 799 (Q799E, p.Gln799Glu). 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, AIS and prostate cancer; reduced transcription activation. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs137852591 [ dbSNP | Ensembl ]

Sequence information Variant position:

799 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:

SRMYSQCVRMRHLSQEFGWL Q ITPQEFLCMKALLLFSIIPV 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                         SRMYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLFSIIPV

                              SRMYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLFSIIPV

Rhesus macaque                SRMYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLFSIIPV

Chimpanzee                    SRMYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLFSIIPV

Mouse                         SRMYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLFSIIPV

Rat                           SRMYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLFSIIPV

Pig                           SRMYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLFSIIPV

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
Alternative sequence	645 – 920	Missing. In isoform 3.
Alternative sequence	649 – 920	Missing. In isoform 4.

Literature citations
Androgen receptor gene mutations and p53 gene analysis in advanced prostate cancer.
Castagnaro M.; Yandell D.W.; Dockhorn-Dworniczak B.; Wolfe H.J.; Poremba C.;
Verh. Dtsch. Ges. Pathol. 77:119-123(1993)
Cited for: VARIANTS PROSTATE CANCER LEU-342 AND GLU-799; Androgen receptor defects: historical, clinical, and molecular perspectives.
Quigley C.A.; De Bellis A.; Marschke K.B.; el-Awady M.K.; Wilson E.M.; French F.S.;
Endocr. Rev. 16:271-321(1995)
Cited for: VARIANTS AIS SER-706 AND HIS-764; VARIANTS PAIS LEU-726; THR-738; HIS-775 AND GLU-799; Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome.
Bevan C.L.; Brown B.B.; Davies H.R.; Evans B.A.J.; Hughes I.A.; Patterson M.N.;
Hum. Mol. Genet. 5:265-273(1996)
Cited for: VARIANTS PAIS ILE-743; ILE-781; GLU-799; CYS-841; HIS-856 AND MET-870; Low incidence of androgen receptor gene mutations in human prostatic tumors using single strand conformation polymorphism analysis.
Evans B.A.J.; Harper M.E.; Daniells C.E.; Watts C.E.; Matenhelia S.; Green J.; Griffiths K.;
Prostate 28:162-171(1996)
Cited for: VARIANT PROSTATE CANCER GLU-799; Azoospermia associated with a mutation in the ligand-binding domain of an androgen receptor displaying normal ligand binding, but defective trans-activation.
Wang Q.; Ghadessy F.J.; Trounson A.; de Kretser D.; McLachlan R.; Ng S.C.; Yong E.L.;
J. Clin. Endocrinol. Metab. 83:4303-4309(1998)
Cited for: VARIANT AIS GLU-799; Human androgen receptor gene ligand-binding-domain mutations leading to disrupted interaction between the N- and C-terminal domains.
Jaeaeskelaeinen J.; Deeb A.; Schwabe J.W.; Mongan N.P.; Martin H.; Hughes I.A.;
J. Mol. Endocrinol. 36:361-368(2006)
Cited for: CHARACTERIZATION OF VARIANTS AIS ASN-696; CYS-764; HIS-775; GLU-799; HIS-856 AND PHE-908;

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.