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UniProtKB/Swiss-Prot P11473: Variant p.His305Gln

Vitamin D3 receptor
Gene: VDR
Variant information

Variant position:  305
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Histidine (H) to Glutamine (Q) at position 305 (H305Q, p.His305Gln).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Similar physico-chemical property. Both residues are medium size and polar.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In VDDR2A; loss of calcitriol receptor activity; no effect on interaction with RXRA; changed interaction with NCOR1; loss of interaction with NCOA1; no effect on sequence-specific DNA-binding.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   SWTCGNQDYKYRVSDVTKAG  H SLELIEPLIKFQVGLKKLNL
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                         SWTCGNQDYKYRVSDVTKAGHSLELIEPLIKFQVGLKKLNL

Mouse                         SWDCGSQDYKYDITDVSRAGHTLELIEPLIKFQVGLKKLNL

Rat                           SWDCGSQDYKYDVTDVSKAGHTLELIEPLIKFQVGLKKLNL

Pig                           SWTCGSRDYKYQVSDVAKAGHSLELIEPLIKFQVGLKKLNL

Bovine                        SWTCGSPDYKYQVSDVTRAGHSLELIEPLIKFQVGLKKLNL

Chicken                       SWTCGSNDFKYKVSDVTQAGHSMDLLEPLVKFQVGLKKLNL

Xenopus laevis                SWTCGSEDFKYKVDDVTQAGHNMELLEPLVKFQVGLKKLDL

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.

TypePositionsDescription
Chain 1 – 427 Vitamin D3 receptor
Domain 127 – 423 NR LBD
Binding site 305 – 305 Vitamin D3


Literature citations

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;

Disclaimer: 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.