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
Genetics of vitamin D 1-alpha-hydroxylase deficiency in 17 families.
Wang J.T.; Lin C.-J.; Burridge S.M.; Fu G.K.; Labuda M.; Portale A.A.; Miller W.L.;
Am. J. Hum. Genet. 63:1694-1702(1998)
Cited for: VARIANTS VDDR1A HIS-65; LYS-189; HIS-389; ILE-409; PRO-429; CYS-453 AND ARG-497;
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;
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.