UniProtKB/Swiss-Prot P10275: Variant p.Glu794Asp

Androgen receptor
Gene: AR
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Variant information Variant position:

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

LB/B 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 Glutamate (E) to Aspartate (D) at position 794 (E794D, p.Glu794Asp). 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 acidic. 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
Polymorphism:

The poly-Gln region of AR is highly polymorphic and the number of Gln varies in the population (from 17 to 26). A smaller size of the poly-Gln region may be associated with the development of prostate cancer. Long poly-Gln alleles (>23) may be associated with higher testosterone levels and severe clinical outcome in COVID-19 disease (PubMed:33647767).The poly-Gly region of AR is polymorphic and ranges from 24 to 31 Gly. A poly-Gly region shorter or equal to 23 may be associated with the development of androgenetic alopecia. - Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs1414341563 [ dbSNP | Ensembl ]

Sequence information Variant position:

794 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:

YRMHKSRMYSQCVRMRHLSQ E FGWLQITPQEFLCMKALLLF 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                         YRMHKSRMYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLF

                              YRMHKSRMYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLF

Rhesus macaque                YRMHKSRMYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLF

Chimpanzee                    YRMHKSRMYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLF

Mouse                         YRMHKSRMYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLF

Rat                           YRMHKSRMYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLF

Pig                           YRMHKSRMYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLF

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.
Helix	782 – 797

Literature citations
Sequence variation in the androgen receptor gene is not a common determinant of male sexual orientation.
Macke J.P.; Hu N.; Hu S.; Bailey M.; King V.L.; Brown T.; Hamer D.; Nathans J.;
Am. J. Hum. Genet. 53:844-852(1993)
Cited for: VARIANTS ARG-207 AND ASP-794;

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.