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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51795: Variant p.Gly249Asp

H(+)/Cl(-) exchange transporter 5
Gene: CLCN5
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Variant information Variant position: help 249 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Glycine (G) to Aspartate (D) at position 249 (G249D, p.Gly249Asp). 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: help Change from glycine (G) to medium size and acidic (D) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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: help In DENT1; retained in the endoplasmic reticulum; improperly N-glycosylated and non-functional. Any additional useful information about the variant.


Sequence information Variant position: help 249 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 816 The length of the canonical sequence.
Location on the sequence: help KVFAPYACGSGIPEIKTILS G FIIRGYLGKWTLVIKTITLV 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         KVFAPYACGSGIPEIKTILSGFIIRGYLGKWTLVIKTITLV

Mouse                         KAFAPYACGSGIPEIKTILSGFIIRGYLGKWTLVIKTITLV

Rat                           KAFAPYACGSGIPEIKTILSGFIIRGYLGKWTLVIKTITLV

Pig                           KVFAPYACGSGIPEIKTILSGFIIRGYLGKWTLIIKTITLV

Rabbit                        KVFAPYACGSGIPEIKTILSGFIIRGYLGKWTLVIKTITLV
Sequence annotation in neighborhood: help 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 – 816 H(+)/Cl(-) exchange transporter 5
Binding site 238 – 238



Literature citations
Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing.
Grand T.; Mordasini D.; L'Hoste S.; Pennaforte T.; Genete M.; Biyeyeme M.J.; Vargas-Poussou R.; Blanchard A.; Teulon J.; Lourdel S.;
Kidney Int. 76:999-1005(2009)
Cited for: VARIANTS DENT1 ASP-249; LEU-273; ALA-282 AND PRO-539; CHARACTERIZATION OF VARIANTS DENT1 ASP-249; ARG-270; LEU-273; ALA-282; ARG-289; ARG-291 AND PRO-539;
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.