Variant position: 274 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 LTSEDQIVLLKSSAIEVIML RSNESFTMDD-MSWTCGNQDYK
Mouse LTSDDQIVLLKSSAIEVIML RSNQSFTLDD-MSWDCGSQDY
Rat LTSDDQIVLLKSSAIEVIML RSNQSFTMDD-MSWDCGSQDY
Pig LTAEDQIVLLKSSAIEVIML RSNQSFTMDD-MSWTCGSRDY
Bovine LTPEDQIVLLKSSAIEVIML RSNQSFTLDDDMSWTCGSPDY
Chicken LTAEDQIALLKSSAIEVIML RSNQSFTMED-MSWTCGSNDF
Xenopus laevis LIAEDQIALLKSSVIEVIML RSNQSFSLDD-MSWTCGSEDF
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.
Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3.
Kristjansson K.; Rut A.R.; Hewison M.; O'Riordan J.L.H.; Hughes M.R.;
J. Clin. Invest. 92:12-16(1993)
Cited for: VARIANTS VDDR2A 152-GLN--SER-427 DEL AND LEU-274;
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.