Variant position: 642 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:
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 NLALSYSVGLNEVEDHIKNY RPQCLVLTGPPNFRPALVDFV
Mouse NLALSYSVGLNEVEDHIKNY RPQCLVLTGPPNFRPALVDFV
Rat NLALSYSVGLNEVEDHIKNY RPQCLVLTGPPNFRPALVDFV
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.
Type Positions Description
1 – 1021 Solute carrier family 12 member 3
Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life.
Cruz D.N.; Shaer A.J.; Bia M.J.; Lifton R.P.; Simon D.B.;
Kidney Int. 59:710-717(2001)
Cited for: VARIANTS GS PHE-154; LEU-178; GLN-209; ARG-284; VAL-313; TRP-321; TRP-334; CYS-399; LEU-555; LEU-615; GLY-642; LEU-643 AND VAL-729;
Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.
Syren M.-L.; Tedeschi S.; Cesareo L.; Bellantuono R.; Colussi G.; Procaccio M.; Ali A.; Domenici R.; Malberti F.; Sprocati M.; Sacco M.; Miglietti N.; Edefonti A.; Sereni F.; Casari G.; Coviello D.A.; Bettinelli A.;
Hum. Mutat. 20:78-78(2002)
Cited for: VARIANTS GS GLN-158; MET-163; ARG-172; TRP-209; VAL-316; VAL-374; GLU-463; THR-464; LEU-615; TRP-615; GLY-642; HIS-642; MET-677; CYS-852; SER-852; GLY-958 AND TYR-985; VARIANT GLN-904;
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.