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
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;
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