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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51795: Variant p.Glu597Asp

H(+)/Cl(-) exchange transporter 5
Gene: CLCN5
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Variant information Variant position: help 597 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 Glutamate (E) to Aspartate (D) at position 597 (E597D, p.Glu597Asp). 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 Similar physico-chemical property. Both residues are medium size and acidic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 2 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; abolishes the chloride currents; total loss of function. Any additional useful information about the variant.


Sequence information Variant position: help 597 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 AAACLGGVTRMTVSLVVIMF E LTGGLEYIVPLMAAAMTSKW 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                         AAACLGGVTRMTVSLVVIMFELTGGLEYIVPLMAAAMTSKW

Mouse                         AAACLGGVTRMTVSLVVIMFELTGGLEYIVPLMAAAMTSKW

Rat                           AAACLGGVTRMTVSLVVIMFELTGGLEYIVPLMAAAMTSKW

Pig                           AAACLGGVTRMTVSLVVIMFELTGGLEYIVPLMAAAMTSKW

Rabbit                        AAACLGGVTRMTVSLVVIMFELTGGLEYIVPLMAAAMTSKW
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
Intramembrane 588 – 599 Helical



Literature citations
Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.
Lloyd S.E.; Guenther W.; Pearce S.H.S.; Thomson A.; Bianchi M.L.; Bosio M.; Craig I.W.; Fisher S.E.; Scheinman S.J.; Wrong O.; Jentsch T.J.; Thakker R.V.;
Hum. Mol. Genet. 6:1233-1239(1997)
Cited for: VARIANTS DENT1 HIS-100 INS; VAL-127; ARG-582 AND ASP-597; Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure.
Smith A.J.; Reed A.A.; Loh N.Y.; Thakker R.V.; Lippiat J.D.;
Am. J. Physiol. 296:F390-F397(2009)
Cited for: CHARACTERIZATION OF VARIANTS DENT1 VAL-127; ARG-340; GLU-583; TRP-586 AND ASP-597; CHARACTERIZATION OF VARIANTS LMWPHN PRO-350 AND LYS-594; 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.