Sequence information
Variant position: 326 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1214 The length of the canonical sequence.
Location on the sequence:
PQNSPPSSPSISRLTSRSSQ
E SQRQAPELLVSPASDDIPTV
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 PQNSPPSSPSISRLTSRSSQE SQRQAPELLVSPASDDIPTV
Mouse --------------------- --------------------
Rat PQNSPPSSPSLSRLTSRSSQQ TQPQAPEVLVSPDRDDIPRV
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
Chain
1 – 1214
Sodium bicarbonate cotransporter 3
Topological domain
1 – 608
Extracellular
Region
289 – 346
Disordered
Compositional bias
312 – 334
Polar residues
Alternative sequence
1 – 450
Missing. In isoform 5.
Alternative sequence
251 – 374
Missing. In isoform 2, isoform 3, isoform 4, isoform 6, isoform 9, isoform 11, isoform 13 and isoform 14.
Literature citations
Cloning, tissue distribution, genomic organization, and functional characterization of NBC3, a new member of the sodium bicarbonate cotransporter family.
Pushkin A.; Abuladze N.; Lee I.; Newman D.; Hwang J.; Kurtz I.;
J. Biol. Chem. 274:16569-16575(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); FUNCTION; BIOPHYSICOCHEMICAL PROPERTIES; REGULATION; VARIANT LYS-326;
Cloning and identification of novel human NBCn1 splice variants.
Liu Y.; Chen L.-M.; Parker M.D.; Boron W.F.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 6; 7; 8; 9; 10; 11 AND 12); ALTERNATIVE SPLICING; VARIANT LYS-326;
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.