Variant position: 856 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 IKELDRIIACKRKNPTSCSR RFYQLTKLLDSVQPIARELHQ
Rhesus macaque IKELDRIIACKRKNPTSCSR RFYQLTKLLDSVQPIARELHQ
Chimpanzee IKELDRIIACKRKNPTSCSR RFYQLTKLLDSVQPIARELHQ
Mouse IKELDRIIACKRKNPTSCSR RFYQLTKLLDSVQPIARELHQ
Rat IKELDRIIACKRKNPTSCSR RFYQLTKLLDSVQPIARELHQ
Pig IKELDRIIACKRKNPTSCSR RFYQLTKLLDSVQPIARELHQ
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
846 – 846 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
848 – 848 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
645 – 920 Missing. In isoform 3.
649 – 920 Missing. In isoform 4.
846 – 846 K -> R. Prevents ubiquitination by RNF6. Prevents AR transcriptional activation by RNF14 in absence of hormone.
848 – 848 K -> R. Partially prevents ubiquitination by RNF6.
853 – 883
Mutations of the androgen receptor gene identified in perineal hypospadias.
Batch J.A.; Evans B.A.J.; Hughes I.A.; Patterson M.N.;
J. Med. Genet. 30:198-201(1993)
Cited for: INVOLVEMENT IN PAIS; INVOLVEMENT IN HYSP1; VARIANTS PAIS HIS-856 AND MET-870;
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;
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;
Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling.
Boehmer A.L.M.; Brinkmann A.O.; Niermeijer M.F.; Bakker L.; Halley D.J.J.; Drop S.L.S.;
Am. J. Hum. Genet. 60:1003-1006(1997)
Cited for: VARIANT AIS HIS-856;
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.