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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P48751: Variant p.Arg343His

Anion exchange protein 3
Gene: SLC4A3
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Variant information Variant position: help 343 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Histidine (H) at position 343 (R343H, p.Arg343His). 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: help Change from large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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: help In SQT7; loss-of-function variant unable to rescue systolic contraction abnormalities in zebrafish morphants; decreased chloride-bicarbonate exchange in transfected cells; decreased localization to cell membrane. Any additional useful information about the variant.


Sequence information Variant position: help 343 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1232 The length of the canonical sequence.
Location on the sequence: help VELNELMLDRSQEPHWRETA R WIKFEEDVEEETERWGKPHV 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         VELNELMLDRSQEPHWRETARWIKFEEDVEEETERWGKPHV

Mouse                         VELNELMLDRSQEPHWRETARWIKFEEDVEEETERWGKPHV

Rat                           VELNELMLDRSQEPHWRETARWIKFEEDVEEETERWGKPHV

Rabbit                        VELNELMLDRSQEPHWRETARWIKFEEDVEEETERWGKPHV

Zebrafish                     VELNELIVDKNQEMRWKERARWIKFEEDVEEETDRWGKPHV
Sequence annotation in neighborhood: help 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 – 1232 Anion exchange protein 3
Topological domain 1 – 708 Cytoplasmic
Beta strand 337 – 351



Literature citations
Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome.
Thorsen K.; Dam V.S.; Kjaer-Sorensen K.; Pedersen L.N.; Skeberdis V.A.; Jurevicius J.; Treinys R.; Petersen I.M.B.S.; Nielsen M.S.; Oxvig C.; Morth J.P.; Matchkov V.V.; Aalkjaer C.; Bundgaard H.; Jensen H.K.;
Nat. Commun. 8:1696-1696(2017)
Cited for: VARIANT SQT7 HIS-343; CHARACTERIZATION OF VARIANT SQT7 HIS-343; INVOLVEMENT IN SQT7; FUNCTION; TRANSPORTER ACTIVITY; 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.