Variant position: 616 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:
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 CASRNDCTIDKFRRKNCPSC RLRKCYEAGMTLGARKLKKLG
Rhesus macaque CASRNDCTIDKFRRKNCPSC RLRKCYEAGMTLGARKLKKLG
Chimpanzee CASRNDCTIDKFRRKNCPSC RLRKCYEAGMTLGARKLKKLG
Mouse CASRNDCTIDKFRRKNCPSC RLRKCYEAGMTLGARKLKKLG
Rat CASRNDCTIDKFRRKNCPSC RLRKCYEAGMTLGARKLKKLG
Pig CASRNDCTIDKFRRKNCPSC RLRKCYEAGMTLGARKLKKLG
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.
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;
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