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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O15528: Variant p.Thr321Arg

25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
Gene: CYP27B1
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Variant information Variant position: help 321 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 Threonine (T) to Arginine (R) at position 321 (T321R, p.Thr321Arg). 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 polar (T) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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; complete loss of activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 321 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 ELPAQSILGNVTELLLAGVD T VSNTLSWALYELSRHPEVQT 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                         ELPAQSILGNVTELLLAGVDTVSNTLSWALYELSRHPEVQT

Mouse                         KVSVQSIVGNVTELLLAGVDTVSNTLSWTLYELSRHPDVQT

Rat                           KVSVQSIVGNVTELLLAGVDTVSNTLSWALYELSRHPEVQS


Literature citations
No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation.
Kitanaka S.; Murayama A.; Sakaki T.; Inouye K.; Seino Y.; Fukumoto S.; Shima M.; Yukizane S.; Takayanagi M.; Niimi H.; Takeyama K.; Kato S.;
J. Clin. Endocrinol. Metab. 84:4111-4117(1999)
Cited for: VARIANTS VDDR1A ARG-321 AND CYS-389; FUNCTION; CATALYTIC ACTIVITY;
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.