Variant position: 750 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 HVDDQMAVIQYSWMGLMVFA MGWRSFTNVNSRMLYFAPDLV
Rhesus macaque HVDDQMAVIQYSWMGLMVFA MGWRSFTNVNSRMLYFAPDLV
Chimpanzee HVDDQMAVIQYSWMGLMVFA MGWRSFTNVNSRMLYFAPDLV
Mouse HVDDQMAVIQYSWMGLMVFA MGWRSFTNVNSRMLYFAPDLV
Rat HVDDQMAVIQYSWMGLMVFA MGWRSFTNVNSRMLYFAPDLV
Pig HVDDQMAVIQYSWMGLMVFA MGWRSFTNVNSRMLYFAPDLV
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
Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS).
Jakubiczka S.; Werder E.A.; Wieacker P.;
Hum. Genet. 90:311-312(1992)
Cited for: VARIANT AIS VAL-750;
Single base mutations in the human androgen receptor gene causing complete androgen insensitivity: rapid detection by a modified denaturing gradient gel electrophoresis technique.
De Bellis A.; Quigley C.A.; Cariello N.F.; el-Awady M.K.; Sar M.; Lane M.V.; Wilson E.M.; French F.S.;
Mol. Endocrinol. 6:1909-1920(1992)
Cited for: VARIANTS AIS SER-706; VAL-750; PHE-760; HIS-775; CYS-856 AND GLY-865;
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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