Variant position: 389 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 508 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 LLKAVVKEVLRLYPVVPGNS RVPDKDIHVGDYIIPKNTLVT
Mouse LLKAVIKEVLRLYPVVPGNS RVPDRDIRVGNYVIPQDTLVS
Rat LLKAVIKEVLRLYPVVPGNS RVPDRDICVGNYVIPQDTLVS
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;
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