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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P55017: Variant p.Gly496Cys

Solute carrier family 12 member 3
Gene: SLC12A3
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Variant information Variant position: help 496 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 Cysteine (C) at position 496 (G496C, p.Gly496Cys). 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 polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 GTLMNS. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 496 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1021 The length of the canonical sequence.
Location on the sequence: help AAKVFQCLCEDQLYPLIGFF G KGYGKNKEPVRGYLLAYAIA 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                         AAKVFQCLCEDQLYPLIGFFGKGYGKNKEPVRGYLLAYAIA

Mouse                         AAKVFQCLCEDQLYPLIGFFGKGYGKNREPVRGYLLAYAIA

Rat                           AAKVFQCLCEDQLYPLIGFFGKGYGKNKEPVRGYLLAYAIA
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 – 1021 Solute carrier family 12 member 3
Topological domain 478 – 507 Cytoplasmic



Literature citations
Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter.
Simon D.B.; Nelson-Williams C.; Bia M.J.; Ellison D.; Karet F.E.; Molina A.M.; Vaara I.; Iwata F.; Cushner H.M.; Koolen M.; Gainza F.J.; Gitelman H.J.; Lifton R.P.;
Nat. Genet. 12:24-30(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANTS GTLMNS TRP-209; GLY-264; LEU-349; ARG-421; ASN-486; CYS-496; SER-561 DEL; VAL-588; VAL-630; HIS-655; LEU-655; ARG-741; PRO-850 AND GLN-955; VARIANT THR-728; FUNCTION; ACTIVITY REGULATION; Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome.
Mastroianni N.; Bettinelli A.; Bianchetti M.; Colussi G.; De Fusco M.; Sereni F.; Ballabio A.; Casari G.;
Am. J. Hum. Genet. 59:1019-1026(1996)
Cited for: VARIANTS GTLMNS ASN-62; ASP-186; TRP-209; LEU-349; SER-439; GLU-478; ASN-486; CYS-496; PRO-542; VAL-588 AND ARG-731;
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.