Sequence information
Variant position: 781 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:
RMLYFAPDLVFNEYRMHKSR
M YSQCVRMRHLSQEFGWLQIT
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 RMLYFAPDLVFNEYRMHKSRM YSQCVRMRHLSQEFGWLQIT
RMLYFAPDLVFNEYRMHKSRM YSQCVRMRHLSQEFGWLQIT
Rhesus macaque RMLYFAPDLVFNEYRMHKSRM YSQCVRMRHLSQEFGWLQIT
Chimpanzee RMLYFAPDLVFNEYRMHKSRM YSQCVRMRHLSQEFGWLQIT
Mouse RMLYFAPDLVFNEYRMHKSRM YSQCVRMRHLSQEFGWLQIT
Rat RMLYFAPDLVFNEYRMHKSRM YSQCVRMRHLSQEFGWLQIT
Pig RMLYFAPDLVFNEYRMHKSRM YSQCVRMRHLSQEFGWLQIT
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
Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome.
Bevan C.L.; Brown B.B.; Davies H.R.; Evans B.A.J.; Hughes I.A.; Patterson M.N.;
Hum. Mol. Genet. 5:265-273(1996)
Cited for: VARIANTS PAIS ILE-743; ILE-781; GLU-799; CYS-841; HIS-856 AND MET-870;
Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene.
Rodien P.; Mebarki F.; Mowszowicz I.; Chaussain J.L.; Young J.; Morel Y.; Schaison G.;
J. Clin. Endocrinol. Metab. 81:2994-2998(1996)
Cited for: VARIANT AIS ILE-781;
Mutations of the androgen receptor gene in patients with complete androgen insensitivity.
Jakubiczka S.; Nedel S.; Werder E.A.; Schleiermacher E.; Theile U.; Wolff G.; Wieacker P.;
Hum. Mutat. 9:57-61(1997)
Cited for: VARIANTS AIS VAL-750; CYS-775; ILE-781 AND SER-795;
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.