Variant position: 305 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 427 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 SWTCGNQDYKYRVSDVTKAG HSLELIEPLIKFQVGLKKLNL
Mouse SWDCGSQDYKYDITDVSRAG HTLELIEPLIKFQVGLKKLNL
Rat SWDCGSQDYKYDVTDVSKAG HTLELIEPLIKFQVGLKKLNL
Pig SWTCGSRDYKYQVSDVAKAG HSLELIEPLIKFQVGLKKLNL
Bovine SWTCGSPDYKYQVSDVTRAG HSLELIEPLIKFQVGLKKLNL
Chicken SWTCGSNDFKYKVSDVTQAG HSMDLLEPLVKFQVGLKKLNL
Xenopus laevis SWTCGSEDFKYKVDDVTQAG HNMELLEPLVKFQVGLKKLDL
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness.
Malloy P.J.; Eccleshall T.R.; Gross C.; van Maldergem L.; Bouillon R.; Feldman D.;
J. Clin. Invest. 99:297-304(1997)
Cited for: VARIANT VDDR2A GLN-305;
Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia.
Tamura M.; Ishizawa M.; Isojima T.; Oezen S.; Oka A.; Makishima M.; Kitanaka S.;
Sci. Rep. 7:5102-5102(2017)
Cited for: VARIANT VDDR2A PRO-360; CHARACTERIZATION OF VARIANT VDDR2A 152-GLN--SER-427 DEL; LEU-274; GLN-305; MET-346 AND PRO-360; FUNCTION; INTERACTION WITH NCOA1; NCOR1 AND RXR; SUBCELLULAR LOCATION;
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.