Sequence information
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: R FYQLTKLLDSVQPIARELHQ
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 IKELDRIIACKRKNPTSCSRR FYQLTKLLDSVQPIARELHQ
IKELDRIIACKRKNPTSCSRR FYQLTKLLDSVQPIARELHQ
Rhesus macaque IKELDRIIACKRKNPTSCSRR FYQLTKLLDSVQPIARELHQ
Chimpanzee IKELDRIIACKRKNPTSCSRR FYQLTKLLDSVQPIARELHQ
Mouse IKELDRIIACKRKNPTSCSRR FYQLTKLLDSVQPIARELHQ
Rat IKELDRIIACKRKNPTSCSRR FYQLTKLLDSVQPIARELHQ
Pig IKELDRIIACKRKNPTSCSRR FYQLTKLLDSVQPIARELHQ
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
Chain
1 – 920 Androgen receptor
Domain
669 – 900 NR LBD
Region
552 – 919 Interaction with LPXN
Region
592 – 919 Interaction with CCAR1
Region
625 – 919 Interaction with KAT7
Cross
846 – 846 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Cross
848 – 848 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Alternative sequence
645 – 920 Missing. In isoform 3.
Alternative sequence
649 – 920 Missing. In isoform 4.
Mutagenesis
846 – 846 K -> R. Prevents ubiquitination by RNF6. Prevents AR transcriptional activation by RNF14 in absence of hormone.
Mutagenesis
848 – 848 K -> R. Partially prevents ubiquitination by RNF6.
Helix
853 – 883
Literature citations
Single base mutations in the human androgen receptor gene causing complete androgen insensitivity: rapid detection by a modified denaturing gradient gel electrophoresis technique.
De Bellis A.; Quigley C.A.; Cariello N.F.; el-Awady M.K.; Sar M.; Lane M.V.; Wilson E.M.; French F.S.;
Mol. Endocrinol. 6:1909-1920(1992) Cited for: VARIANTS AIS SER-706; VAL-750; PHE-760; HIS-775; CYS-856 AND GLY-865;
Androgen receptor (AR) gene mutations in 6 families with androgen insensitivity syndrome (Abstract #114).
Lobaccaro J.-M.; Lumbroso S.; Belon C.; Chaussain J.L.; Toublanc J.E.; Leheup B.; Sultan C.;
Cited for: VARIANTS AIS PHE-582; VAL-744; VAL-755; GLU-768 AND CYS-856;
Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain.
Murono K.; Mendonca B.B.; Arnhold I.J.P.; Rigon A.C.M.M.; Migeon C.J.; Brown T.R.;
Hum. Mutat. 6:152-162(1995) Cited for: VARIANT PAIS CYS-764; VARIANTS AIS TRP-780; VAL-808 AND CYS-856;
Rapid detection of a mutation hot-spot in the human androgen receptor.
Malmgren H.; Gustavsson J.; Tuvemo T.; Dahl N.;
Clin. Genet. 50:202-205(1996) Cited for: VARIANT AIS CYS-856;
DNA analysis of the androgen receptor gene in two cases with complete androgen insensitivity syndrome.
Komori S.; Sakata K.; Tanaka H.; Shima H.; Koyama K.;
J. Obstet. Gynaecol. Res. 23:277-281(1997) Cited for: VARIANTS AIS ARG-196 AND CYS-856;
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.