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UniProtKB/Swiss-Prot P55017: Variant p.Asn442Ser

Solute carrier family 12 member 3
Gene: SLC12A3
Variant information

Variant position:  442
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 Asparagine (N) to Serine (S) at position 442 (N442S, p.Asn442Ser).
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:  Change from medium size and polar (N) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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:  In GTLMNS; 68% residual Na(+) uptake activity; partial loss of localization at the plasma membrane.
Any additional useful information about the variant.



Sequence information

Variant position:  442
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1021
The length of the canonical sequence.

Location on the sequence:   SYGWNFTECTQQHSCHYGLI  N YYQTMSMVSGFAPLITAGIF
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                         SYGWNFTECTQQHSCHYGLINYYQTMSMVSGFAPLITAGIF

Mouse                         GYGWNFTECSQQRSCRYGLINYYQTMSMVSAFAPLITAGIF

Rat                           GYGWNFTECSQQHSCRYGLINYYQTMSMVSAFAPLITAGIF

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 – 1021 Solute carrier family 12 member 3
Glycosylation 426 – 426 N-linked (GlcNAc...) asparagine


Literature citations

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.
Glaudemans B.; Yntema H.G.; San-Cristobal P.; Schoots J.; Pfundt R.; Kamsteeg E.J.; Bindels R.J.; Knoers N.V.; Hoenderop J.G.; Hoefsloot L.H.;
Eur. J. Hum. Genet. 20:263-270(2012)
Cited for: VARIANTS GTLMNS MET-60; HIS-62; GLN-83; TRP-83; ASP-121; CYS-135; CYS-145; MET-150; MET-153; PRO-157; LEU-158; MET-163; VAL-166; ARG-172; LEU-178; THR-192; ILE-194; GLN-209; ARG-235; ASN-259; PRO-272; MET-304; PRO-304; VAL-313; TRP-321; TRP-334; GLU-374; MET-382; ILE-392; CYS-399; 433-GLN--CYS-436 DELINS LEU; SER-439; SER-442; ARG-463; THR-464; CYS-475; HIS-489; CYS-507; THR-523; SER-534; LEU-536; GLY-546; LEU-555; ARG-560; ASN-566 DEL; LEU-615; CYS-642; CYS-642; GLY-642; HIS-642; LEU-643; MET-647; HIS-655; LYS-ALA-PHE-TYR-SER-ASP-VAL-ILE-713 INS; VAL-729; ARG-735; ARG-741; LEU-751; THR-824; ASN-839; PHE-849; PRO-850; CYS-852; CYS-862; THR-872; GLN-887; TRP-934; TRP-935; GLN-955; GLY-958; ARG-980; TYR-985; GLN-1009 AND ARG-1021; CHARACTERIZATION OF VARIANT GTLMNS ASP-121; ILE-392; SER-442; CYS-475; HIS-489; LEU-751 AND ARG-1021; FUNCTION; 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.