Variant position: 47 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 CGDRATGFHFNAMTCEGCKG FFRRSMKRKALFTCPFNGDCR
Mouse CGDRATGFHFNAMTCEGCKG FFRRSMKRKALFTCPFNGDCR
Rat CGDRATGFHFNAMTCEGCKG FFRRSMKRKALFTCPFNGDCR
Pig CGDRATGFHFNAMTCEGCKG FFRRSMKRKALFTCPFNGDCR
Bovine CGDRATGFHFNAMTCEGCKG FFRRSMKRKALFTCPFNGDCR
Chicken CGDRATGFHFNAMTCEGCKG FFRRSMKRKAMFTCPFNGDCK
Xenopus laevis CGDKATGFHFNAMTCEGCKG FFRRSMKRKAMFTCPFNGDCR
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 – 427 Vitamin D3 receptor
21 – 96 Nuclear receptor
47 – 48 FF -> AA. Abolishes nuclear export.
42 – 53
Two mutations causing vitamin D resistant rickets: modelling on the basis of steroid hormone receptor DNA-binding domain crystal structures.
Rut A.R.; Hewison M.; Kristjansson K.; Luisi B.; Hughes M.R.; O'Riordan J.L.H.;
Clin. Endocrinol. (Oxf.) 41:581-590(1994)
Cited for: VARIANTS VDDR2A GLU-45 AND ILE-47;
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