UniProtKB/Swiss-Prot Q9Y6M7: Variant p.Glu326Lys

Sodium bicarbonate cotransporter 3
Gene: SLC4A7
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Variant information Variant position:

326 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Glutamate (E) to Lysine (K) at position 326 (E326K, p.Glu326Lys). 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 acidic (E) to large size and basic (K) 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
Other resources:

Links to websites of interest for the variant.

Variant rs3755652 [ dbSNP | Ensembl ]

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                         PQNSPPSSPSISRLTSRSSQESQRQAPELLVSPASDDIPTV

Mouse                         -----------------------------------------

Rat                           PQNSPPSSPSLSRLTSRSSQQTQPQAPEVLVSPDRDDIPRV

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; ACTIVITY REGULATION; VARIANT LYS-326; TRANSPORTER ACTIVITY; TISSUE SPECIFICITY; 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.