Variant position: 343 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 SNTLSWALYELSRHPEVQTA LHSEITAALSPGSSAYPSATV
Mouse SNTLSWTLYELSRHPDVQTA LHSEITAG-TRGSCAHPHGTA
Rat SNTLSWALYELSRHPEVQSA LHSEITGAVNPGSYAHLQATA
Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro.
Wang X.; Zhang M.Y.; Miller W.L.; Portale A.A.;
J. Clin. Endocrinol. Metab. 87:2424-2430(2002)
Cited for: VARIANTS VDDR1A GLY-189; PHE-343; GLY-389; HIS-389 AND ILE-409; FUNCTION; CATALYTIC ACTIVITY;
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