Variant position: 608 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 AEGKQKYLCASRNDCTIDKF RRKNCPSCRLRKCYEAGMTLG
Rhesus macaque AEGKQKYLCASRNDCTIDKF RRKNCPSCRLRKCYEAGMTLG
Chimpanzee AEGKQKYLCASRNDCTIDKF RRKNCPSCRLRKCYEAGMTLG
Mouse AEGKQKYLCASRNDCTIDKF RRKNCPSCRLRKCYEAGMTLG
Rat AEGKQKYLCASRNDCTIDKF RRKNCPSCRLRKCYEAGMTLG
Pig AEGKQKYLCASRNDCTIDKF RRKNCPSCRLRKCYEAGMTLG
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 germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome.
Wooster R.; Mangion J.; Eeles R.; Smith S.; Dowsett M.; Averill D.; Barrett-Lee P.; Easton D.F.; Ponder B.A.; Stratton M.R.;
Nat. Genet. 2:132-134(1992)
Cited for: VARIANT PAIS/BREAST CANCER GLN-608;
Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene.
Weidemann W.; Linck B.; Haupt H.; Mentrup B.; Romalo G.; Stockklauser K.; Brinkmann A.O.; Schweikert H.-U.; Spindler K.D.;
Clin. Endocrinol. (Oxf.) 45:733-739(1996)
Cited for: VARIANTS PAIS GLN-608; THR-611; LEU-755; HIS-841; THR-843 AND HIS-856; VARIANT AIS MET-867;
Response to androgen treatment in a patient with partial androgen insensitivity and a mutation in the deoxyribonucleic acid-binding domain of the androgen receptor.
Weidemann W.; Peters B.; Romalo G.; Spindler K.D.; Schweikert H.-U.;
J. Clin. Endocrinol. Metab. 83:1173-1176(1998)
Cited for: VARIANT PAIS GLN-608;
Androgen receptor gene mutations in 46,XY females with germ cell tumours.
Chen C.P.; Chern S.R.; Wang T.Y.; Wang W.; Wang K.L.; Jeng C.J.;
Hum. Reprod. 14:664-670(1999)
Cited for: VARIANT PAIS GLN-608; VARIANT AIS LYS-682;
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