Variant position: 867 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 RKNPTSCSRRFYQLTKLLDS VQPIARELHQFTFDLLIKSHM
Rhesus macaque RKNPTSCSRRFYQLTKLLDS VQPIARELHQFTFDLLIKSHM
Chimpanzee RKNPTSCSRRFYQLTKLLDS VQPIARELHQFTFDLLIKSHM
Mouse RKNPTSCSRRFYQLTKLLDS VQPIARELHQFTFDLLIKSHM
Rat RKNPTSCSRRFYQLTKLLDS VQPIARELHQFTFDLLIKSHM
Pig RKNPTSCSRRFYQLTKLLDS VQPIARELHQFTFDLLIKSHM
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
878 – 878 Androgen
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.
848 – 848 K -> R. Partially prevents ubiquitination by RNF6.
853 – 883
Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome.
Saunders P.T.; Padayachi T.; Tincello D.G.; Shalet S.M.; Wu F.C.;
Clin. Endocrinol. (Oxf.) 37:214-220(1992)
Cited for: VARIANTS PAIS LYS-609 AND LEU-867;
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;
Substitution of valine-865 by methionine or leucine in the human androgen receptor causes complete or partial androgen insensitivity, respectively with distinct androgen receptor phenotypes.
Kazemi-Esfarjani P.; Beitel L.K.; Trifiro M.A.; Kaufman M.; Rennie P.; Sheppard P.; Matusik R.; Pinsky L.;
Mol. Endocrinol. 7:37-46(1993)
Cited for: VARIANT AIS MET-867; VARIANT PAIS LEU-867;
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.