Variant position: 799 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 SRMYSQCVRMRHLSQEFGWL QITPQEFLCMKALLLFSIIPV
Rhesus macaque SRMYSQCVRMRHLSQEFGWL QITPQEFLCMKALLLFSIIPV
Chimpanzee SRMYSQCVRMRHLSQEFGWL QITPQEFLCMKALLLFSIIPV
Mouse SRMYSQCVRMRHLSQEFGWL QITPQEFLCMKALLLFSIIPV
Rat SRMYSQCVRMRHLSQEFGWL QITPQEFLCMKALLLFSIIPV
Pig SRMYSQCVRMRHLSQEFGWL QITPQEFLCMKALLLFSIIPV
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
1 – 920 Androgen receptor
669 – 900 NR LBD
552 – 919 Interaction with LPXN
592 – 919 Interaction with CCAR1
625 – 919 Interaction with KAT7
645 – 920 Missing. In isoform 3.
649 – 920 Missing. In isoform 4.
Androgen receptor gene mutations and p53 gene analysis in advanced prostate cancer.
Castagnaro M.; Yandell D.W.; Dockhorn-Dworniczak B.; Wolfe H.J.; Poremba C.;
Verh. Dtsch. Ges. Pathol. 77:119-123(1993)
Cited for: VARIANTS PROSTATE CANCER LEU-342 AND GLU-799;
Androgen receptor defects: historical, clinical, and molecular perspectives.
Quigley C.A.; De Bellis A.; Marschke K.B.; el-Awady M.K.; Wilson E.M.; French F.S.;
Endocr. Rev. 16:271-321(1995)
Cited for: VARIANTS AIS SER-706 AND HIS-764; VARIANTS PAIS LEU-726; THR-738; HIS-775 AND GLU-799;
Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome.
Bevan C.L.; Brown B.B.; Davies H.R.; Evans B.A.J.; Hughes I.A.; Patterson M.N.;
Hum. Mol. Genet. 5:265-273(1996)
Cited for: VARIANTS PAIS ILE-743; ILE-781; GLU-799; CYS-841; HIS-856 AND MET-870;
Low incidence of androgen receptor gene mutations in human prostatic tumors using single strand conformation polymorphism analysis.
Evans B.A.J.; Harper M.E.; Daniells C.E.; Watts C.E.; Matenhelia S.; Green J.; Griffiths K.;
Cited for: VARIANT PROSTATE CANCER GLU-799;
Azoospermia associated with a mutation in the ligand-binding domain of an androgen receptor displaying normal ligand binding, but defective trans-activation.
Wang Q.; Ghadessy F.J.; Trounson A.; de Kretser D.; McLachlan R.; Ng S.C.; Yong E.L.;
J. Clin. Endocrinol. Metab. 83:4303-4309(1998)
Cited for: VARIANT AIS GLU-799;
Human androgen receptor gene ligand-binding-domain mutations leading to disrupted interaction between the N- and C-terminal domains.
Jaeaeskelaeinen J.; Deeb A.; Schwabe J.W.; Mongan N.P.; Martin H.; Hughes I.A.;
J. Mol. Endocrinol. 36:361-368(2006)
Cited for: CHARACTERIZATION OF VARIANTS AIS ASN-696; CYS-764; HIS-775; GLU-799; HIS-856 AND PHE-908;
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.