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Variant position: 478The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 508The 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.
Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages.
Smith S.J.; Rucka A.K.; Berry J.L.; Davies M.; Mylchreest S.; Paterson C.R.; Heath D.A.; Tassabehji M.; Read A.P.; Mee A.P.; Mawer E.B.;
J. Bone Miner. Res. 14:730-739(1999)
Cited for: VARIANTS VDDR1A TYR-323 AND GLY-478;
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