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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10275: Variant p.Arg616His

Androgen receptor
Gene: AR
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Variant information Variant position: help 616 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 Histidine (H) at position 616 (R616H, p.Arg616His). 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 medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 and PAIS. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 616 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 CASRNDCTIDKFRRKNCPSC R LRKCYEAGMTLGARKLKKLG 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                         CASRNDCTIDKFRRKNCPSCRLRKCYEAGMTLGARKLKKLG

                              CASRNDCTIDKFRRKNCPSCRLRKCYEAGMTLGARKLKKLG

Rhesus macaque                CASRNDCTIDKFRRKNCPSCRLRKCYEAGMTLGARKLKKLG

Chimpanzee                    CASRNDCTIDKFRRKNCPSCRLRKCYEAGMTLGARKLKKLG

Mouse                         CASRNDCTIDKFRRKNCPSCRLRKCYEAGMTLGARKLKKLG

Rat                           CASRNDCTIDKFRRKNCPSCRLRKCYEAGMTLGARKLKKLG

Pig                           CASRNDCTIDKFRRKNCPSCRLRKCYEAGMTLGARKLKKLG

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
DNA binding 560 – 632 Nuclear receptor
Zinc finger 596 – 620 NR C4-type
Region 552 – 919 Interaction with LPXN
Region 572 – 662 Interaction with HIPK3
Region 592 – 919 Interaction with CCAR1



Literature citations
A point mutation in the second zinc finger of the DNA-binding domain of the androgen receptor gene causes complete androgen insensitivity in two siblings with receptor-positive androgen resistance.
Mowszowicz I.; Lee H.-J.; Chen H.-T.; Mestayer C.; Portois M.-C.; Cabrol S.; Mauvais-Jarvis P.; Chang C.;
Mol. Endocrinol. 7:861-869(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 558-625 (ISOFORMS 1/2); VARIANT AIS HIS-616; Complete androgen insensitivity due to mutations in the probable alpha-helical segments of the DNA-binding domain in the human androgen receptor.
Beitel L.K.; Prior L.; Vasiliou D.M.; Gottlieb B.; Kaufman M.; Lumbroso R.; Alvarado C.; McGillivray B.; Trifiro M.A.; Pinsky L.;
Hum. Mol. Genet. 3:21-27(1994)
Cited for: VARIANTS AIS PHE-583 DEL; ARG-616 DEL AND HIS-616; A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with X-linked androgen insensitivity.
Ris-Stalpers C.; Hoogenboezem T.; Sleddens H.F.B.M.; Verleun-Mooijman M.C.T.; Degenhart H.J.; Drop S.L.S.; Halley D.J.J.; Oosterwijk J.C.; Hodgins M.B.; Trapman J.; Brinkmann A.O.;
Pediatr. Res. 36:227-234(1994)
Cited for: VARIANTS AIS HIS-616 AND LEU-765; VARIANTS PAIS VAL-743 AND THR-746; Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism.
Cabral D.F.; Maciel-Guerra A.T.; Hackel C.;
Braz. J. Med. Biol. Res. 31:775-778(1998)
Cited for: VARIANTS AIS HIS-616 AND GLN-753;
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.