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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10275: Variant p.Arg780Trp

Androgen receptor
Gene: AR
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Variant information Variant position: help 780 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Tryptophan (W) at position 780 (R780W, p.Arg780Trp). 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: help Change from large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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: help In AIS. Any additional useful information about the variant.


Sequence information Variant position: help 780 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 920 The length of the canonical sequence.
Location on the sequence: help SRMLYFAPDLVFNEYRMHKS R MYSQCVRMRHLSQEFGWLQI 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         SRMLYFAPDLVFNEYRMHKSRMYSQCVRMRHLSQEFGWLQI

                              SRMLYFAPDLVFNEYRMHKSRMYSQCVRMRHLSQEFGWLQI

Rhesus macaque                SRMLYFAPDLVFNEYRMHKSRMYSQCVRMRHLSQEFGWLQI

Chimpanzee                    SRMLYFAPDLVFNEYRMHKSRMYSQCVRMRHLSQEFGWLQI

Mouse                         SRMLYFAPDLVFNEYRMHKSRMYSQCVRMRHLSQEFGWLQI

Rat                           SRMLYFAPDLVFNEYRMHKSRMYSQCVRMRHLSQEFGWLQI

Pig                           SRMLYFAPDLVFNEYRMHKSRMYSQCVRMRHLSQEFGWLQI
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
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
Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis.
Hiort O.; Wodtke A.; Struve D.; Zoellner A.; Sinnecker G.H.;
Hum. Mol. Genet. 3:1163-1166(1994)
Cited for: VARIANTS PAIS SER-583; TYR-605; ALA-709; LEU-755 AND HIS-772; VARIANT AIS TRP-780; Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain.
Murono K.; Mendonca B.B.; Arnhold I.J.P.; Rigon A.C.M.M.; Migeon C.J.; Brown T.R.;
Hum. Mutat. 6:152-162(1995)
Cited for: VARIANT PAIS CYS-764; VARIANTS AIS TRP-780; VAL-808 AND CYS-856; Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene.
Sinnecker G.H.; Hiort O.; Nitsche E.M.; Holterhus P.M.; Kruse K.;
Eur. J. Pediatr. 156:7-14(1997)
Cited for: VARIANT AIS TRP-780;
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.