Variant position: 382 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 TVLSQLPLLKAVVKEVLRLY PVVPGNSRVPDKDIHVGDYII
Mouse TALSQLPLLKAVIKEVLRLY PVVPGNSRVPDRDIRVGNYVI
Rat TALSQLPLLKAVIKEVLRLY PVVPGNSRVPDRDICVGNYVI
Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets.
Kitanaka S.; Takeyama K.; Murayama A.; Sato T.; Okumura K.; Nogami M.; Hasegawa Y.; Niimi H.; Yanagisawa J.; Tanaka T.; Kato S.;
N. Engl. J. Med. 338:653-661(1998)
Cited for: VARIANTS VDDR1A HIS-107; GLU-125; PRO-335 AND SER-382; FUNCTION; CATALYTIC ACTIVITY; TISSUE SPECIFICITY; PATHWAY;
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.