Variant position: 841 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 GLKNQKFFDELRMNYIKELD RIIACKRKNPTSCSRRFYQLT
Rhesus macaque GLKNQKFFDELRMNYIKELD RIIACKRKNPTSCSRRFYQLT
Chimpanzee GLKNQKFFDELRMNYIKELD RIIACKRKNPTSCSRRFYQLT
Mouse GLKNQKFFDELRMNYIKELD RIIACKRKNPTSCSRRFYQLT
Rat GLKNQKFFDELRMNYIKELD RIIACKRKNPTSCSRRFYQLT
Pig GLKNQKFFDELRMNYIKELD RIIACKRKNPTSCSRRFYQLT
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.
825 – 843
Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy.
Hiort O.; Huang Q.; Sinnecker G.H.; Sadeghi-Nejad A.; Kruse K.; Wolfe H.J.; Yandell D.W.;
J. Clin. Endocrinol. Metab. 77:262-266(1993)
Cited for: VARIANTS AIS LYS-682 AND THR-843; VARIANTS PAIS HIS-841 AND LEU-867;
Molecular prenatal exclusion of familial partial androgen insensitivity (Reifenstein syndrome).
Lumbroso S.; Lobaccaro J.-M.; Belon C.; Amram S.; Bachelard B.; Garandeau P.; Sultan C.;
Eur. J. Endocrinol. 130:327-332(1994)
Cited for: VARIANT PAIS HIS-841;
Single amino acid substitution (840Arg-->His) in the hormone-binding domain of the androgen receptor leads to incomplete androgen insensitivity syndrome associated with a thermolabile androgen receptor.
Imasaki K.; Hasegawa T.; Okabe T.; Sakai Y.; Haji M.; Takayanagi R.; Nawata H.;
Eur. J. Endocrinol. 130:569-574(1994)
Cited for: VARIANT PAIS HIS-841;
Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome.
De Bellis A.; Quigley C.A.; Marschke K.B.; el-Awady M.K.; Lane M.V.; Smith E.P.; Sar M.; Wilson E.M.; French F.S.;
J. Clin. Endocrinol. Metab. 78:513-522(1994)
Cited for: VARIANTS PAIS ARG-617; HIS-841 AND MET-890;
Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance.
Beitel L.K.; Kazemi-Esfarjani P.; Kaufman M.; Lumbroso R.; DiGeorge A.M.; Killinger D.W.; Trifiro M.A.; Pinsky L.;
J. Clin. Invest. 94:546-554(1994)
Cited for: VARIANTS AIS CYS-841 AND HIS-841;
A frame-shift mutation of the androgen receptor gene in a patient with receptor-negative complete testicular feminization: comparison with a single base substitution in a receptor-reduced incomplete form.
Imai A.; Ohno T.; Iida K.; Ohsuye K.; Okano Y.; Tamaya T.;
Ann. Clin. Biochem. 32:482-486(1995)
Cited for: VARIANT AIS HIS-841;
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;
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