Variant position: 744 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 PGFRNLHVDDQMAVIQYSWM GLMVFAMGWRSFTNVNSRMLY
Rhesus macaque PGFRNLHVDDQMAVIQYSWM GLMVFAMGWRSFTNVNSRMLY
Chimpanzee PGFRNLHVDDQMAVIQYSWM GLMVFAMGWRSFTNVNSRMLY
Mouse PGFRNLHVDDQMAVIQYSWM GLMVFAMGWRSFTNVNSRMLY
Rat PGFRNLHVDDQMAVIQYSWM GLMVFAMGWRSFTNVNSRMLY
Pig PGFRNLHVDDQMAVIQYSWM GLMVFAMGWRSFTNVNSRMLY
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 Androgen
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 single amino acid substitution (Gly743 --> Val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome.
Nakao R.; Yanase T.; Sakai Y.; Haji M.; Nawata H.;
J. Clin. Endocrinol. Metab. 77:103-107(1993)
Cited for: VARIANT PAIS VAL-744;
Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism.
Lobaccaro J.-M.; Lumbroso S.; Berta P.; Chaussain J.-L.; Sultan C.;
J. Steroid Biochem. Mol. Biol. 44:211-216(1993)
Cited for: VARIANT AIS VAL-744;
Androgen receptor (AR) gene mutations in 6 families with androgen insensitivity syndrome (Abstract #114).
Lobaccaro J.-M.; Lumbroso S.; Belon C.; Chaussain J.L.; Toublanc J.E.; Leheup B.; Sultan C.;
Cited for: VARIANTS AIS PHE-582; VAL-744; VAL-755; GLU-768 AND CYS-856;
Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome.
Georget V.; Terouanne B.; Lumbroso S.; Nicolas J.C.; Sultan C.;
J. Clin. Endocrinol. Metab. 83:3597-3603(1998)
Cited for: VARIANTS PAIS VAL-744 AND CYS-841;
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