Variant position: 272 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1099 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 LGPEFGGSIGLIFAFANAVA VAMYVVGFAETVVDLLKESDS
Mouse LGPEFGGSIGLIFAFANAVA VAMYVVGFAETVVDLLKESDS
Rat LGPEFGGSIGLIFRFANAVR VAMYVVGFAETVVDLLKESDS
Rabbit LGPEFGGSIGLIFAFANAVA VAMYVVGFAETVVDLLKESDS
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 – 1099 Solute carrier family 12 member 1
260 – 280 Helical
Bartter's syndrome, hypokalemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2.
Simon D.B.; Karet F.E.; Hamdan J.M.; Di Pietro A.; Sanjad S.A.; Lifton R.P.;
Nat. Genet. 13:183-188(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM F); VARIANTS BARTS1 PHE-272 AND ASN-648; VARIANT ALA-958; ALTERNATIVE SPLICING;
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.