Variant position: 743 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 LPGFRNLHVDDQMAVIQYSW MGLMVFAMGWRSFTNVNSRML
Rhesus macaque LPGFRNLHVDDQMAVIQYSW MGLMVFAMGWRSFTNVNSRML
Chimpanzee LPGFRNLHVDDQMAVIQYSW MGLMVFAMGWRSFTNVNSRML
Mouse LPGFRNLHVDDQMAVIQYSW MGLMVFAMGWRSFTNVNSRML
Rat LPGFRNLHVDDQMAVIQYSW MGLMVFAMGWRSFTNVNSRML
Pig LPGFRNLHVDDQMAVIQYSW MGLMVFAMGWRSFTNVNSRML
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
753 – 753 17beta-hydroxy-5alpha-androstan-3-one
645 – 920 Missing. In isoform 3.
649 – 920 Missing. In isoform 4.
742 – 742 W -> L. Strongly decreased transcription activation in the presence of androgen.
731 – 758
A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with X-linked androgen insensitivity.
Ris-Stalpers C.; Hoogenboezem T.; Sleddens H.F.B.M.; Verleun-Mooijman M.C.T.; Degenhart H.J.; Drop S.L.S.; Halley D.J.J.; Oosterwijk J.C.; Hodgins M.B.; Trapman J.; Brinkmann A.O.;
Pediatr. Res. 36:227-234(1994)
Cited for: VARIANTS AIS HIS-616 AND LEU-765; VARIANTS PAIS VAL-743 AND THR-746;
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.