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:
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 RMLYFAPDLVFNEYRMHKSR MYSQCVRMRHLSQEFGWLQIT
Rhesus macaque RMLYFAPDLVFNEYRMHKSR MYSQCVRMRHLSQEFGWLQIT
Chimpanzee RMLYFAPDLVFNEYRMHKSR MYSQCVRMRHLSQEFGWLQIT
Mouse RMLYFAPDLVFNEYRMHKSR MYSQCVRMRHLSQEFGWLQIT
Rat RMLYFAPDLVFNEYRMHKSR MYSQCVRMRHLSQEFGWLQIT
Pig RMLYFAPDLVFNEYRMHKSR MYSQCVRMRHLSQEFGWLQIT
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.
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;
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