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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O15528: Variant p.Val478Gly

25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
Gene: CYP27B1
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Variant information Variant position: help 478 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Valine (V) to Glycine (G) at position 478 (V478G, p.Val478Gly). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and hydrophobic (V) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In VDDR1A. Any additional useful information about the variant.


Sequence information Variant position: help 478 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 508 The length of the canonical sequence.
Location on the sequence: help RRLAELELQMALAQILTHFE V QPEPGAAPVRPKTRTVLVPE 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         RRLAELELQMALAQILTHFEVQPEPGAAPVRPKTRTVLVPE

Mouse                         RRLAELELQMALSQILTHFEVLPEPGALPIKPMTRTVLVPE

Rat                           RRLAELELQMALAQILTHFEVLPEPGALPVKPMTRTVLVPE


Literature citations
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;
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.