Variant position: 391 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 427 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 HPPPGSHLLYAKMIQKLADL RSLNEEHSKQYRCLSFQPECS
Mouse HPPPGSHQLYAKMIQKLADL RSLNEEHSKQYRSLSFQPENS
Rat HPPPGSHQLYAKMIQKLADL RSLNEEHSKQYRSLSFQPENS
Pig HPPPGSHLLYAKMIQKLADL RSLNEEHSKQYRCLSFQPECS
Bovine HPPPGSHLLYAKMIQKLADL RSLNEEHSKQYRCLSFQPESS
Chicken HPPPGSRLLYAKMIQKLADL RSLNEEHSKQYRCLSFQPEHS
Xenopus laevis HPPPGSRLLYAKMIQKLADL RSLNEEHSKQYRSISFLPEHS
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.
Vitamin D receptors from patients with resistance to 1,25-dihydroxyvitamin D(3): point mutations confer reduced transactivation in response to ligand and impaired interaction with the retinoid X receptor heterodimeric partner.
Whitfield G.K.; Selznick S.H.; Haussler C.A.; Hsieh J.-C.; Galligan M.A.; Jurutka P.W.; Thompson P.D.; Lee S.M.; Zerwekh J.E.; Haussler M.R.;
Mol. Endocrinol. 10:1617-1631(1996)
Cited for: VARIANTS VDDR2A SER-314 AND CYS-391;
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.