Sequence information
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:
SRMLYFAPDLVFNEYRMHKS
R MYSQCVRMRHLSQEFGWLQI
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 SRMLYFAPDLVFNEYRMHKSR MYSQCVRMRHLSQEFGWLQI
SRMLYFAPDLVFNEYRMHKSR MYSQCVRMRHLSQEFGWLQI
Rhesus macaque SRMLYFAPDLVFNEYRMHKSR MYSQCVRMRHLSQEFGWLQI
Chimpanzee SRMLYFAPDLVFNEYRMHKSR MYSQCVRMRHLSQEFGWLQI
Mouse SRMLYFAPDLVFNEYRMHKSR MYSQCVRMRHLSQEFGWLQI
Rat SRMLYFAPDLVFNEYRMHKSR MYSQCVRMRHLSQEFGWLQI
Pig SRMLYFAPDLVFNEYRMHKSR MYSQCVRMRHLSQEFGWLQI
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
Chain
1 – 920
Androgen receptor
Domain
669 – 900
NR LBD
Region
552 – 919
Interaction with LPXN
Region
592 – 919
Interaction with CCAR1
Region
625 – 919
Interaction with KAT7
Alternative sequence
645 – 920
Missing. In isoform 3.
Alternative sequence
649 – 920
Missing. In isoform 4.
Literature citations
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;
Disclaimer:
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.