Variant position: 780 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 SRMLYFAPDLVFNEYRMHKS RMYSQCVRMRHLSQEFGWLQI
Rhesus macaque SRMLYFAPDLVFNEYRMHKS RMYSQCVRMRHLSQEFGWLQI
Chimpanzee SRMLYFAPDLVFNEYRMHKS RMYSQCVRMRHLSQEFGWLQI
Mouse SRMLYFAPDLVFNEYRMHKS RMYSQCVRMRHLSQEFGWLQI
Rat SRMLYFAPDLVFNEYRMHKS RMYSQCVRMRHLSQEFGWLQI
Pig SRMLYFAPDLVFNEYRMHKS RMYSQCVRMRHLSQEFGWLQI
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
645 – 920 Missing. In isoform 3.
649 – 920 Missing. In isoform 4.
Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis.
Hiort O.; Wodtke A.; Struve D.; Zoellner A.; Sinnecker G.H.;
Hum. Mol. Genet. 3:1163-1166(1994)
Cited for: VARIANTS PAIS SER-583; TYR-605; ALA-709; LEU-755 AND HIS-772; VARIANT AIS TRP-780;
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;
Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene.
Sinnecker G.H.; Hiort O.; Nitsche E.M.; Holterhus P.M.; Kruse K.;
Eur. J. Pediatr. 156:7-14(1997)
Cited for: VARIANT AIS TRP-780;
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.