Sequence information
Variant position: 45 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:
GVCGDRATGFHFNAMTCEGC
K GFFRRSMKRKALFTCPFNGD
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 GVCGDRATGFHFNAMTCEGCK GFFRRSMKRKALFTCPFNGD
Mouse GVCGDRATGFHFNAMTCEGCK GFFRRSMKRKALFTCPFNGD
Rat GVCGDRATGFHFNAMTCEGCK GFFRRSMKRKALFTCPFNGD
Pig GVCGDRATGFHFNAMTCEGCK GFFRRSMKRKALFTCPFNGD
Bovine GVCGDRATGFHFNAMTCEGCK GFFRRSMKRKALFTCPFNGD
Chicken GVCGDRATGFHFNAMTCEGCK GFFRRSMKRKAMFTCPFNGD
Xenopus laevis GVCGDKATGFHFNAMTCEGCK GFFRRSMKRKAMFTCPFNGD
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
Chain
1 – 427
Vitamin D3 receptor
DNA binding
21 – 96
Nuclear receptor
Helix
42 – 53
Literature citations
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;
Disclaimer:
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.