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
Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome.
Lundberg Giwercman Y.; Nikoshkov A.; Lindsten K.; Bystroem B.; Pousette A.; Chibalin A.V.; Arvidsson S.; Tiulpakov A.; Semitcheva T.V.; Peterkova V.; Hagenfeldt K.; Ritzen E.M.; Wedell A.;
Hum. Genet. 103:529-531(1998)
Cited for: VARIANTS AIS THR-766; TYR-785 AND THR-896; VARIANT PAIS GLY-841;
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.