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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02730: Variant p.Gly701Asp

Band 3 anion transport protein
Gene: SLC4A1
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Variant information Variant position: help 701 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 Glycine (G) to Aspartate (D) at position 701 (G701D, p.Gly701Asp). 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 glycine (G) to medium size and acidic (D) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In DRTA4 and dRTA-NRC; impairs expression at the cell membrane. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 701 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 911 The length of the canonical sequence.
Location on the sequence: help ESQITTLIVSKPERKMVKGS G FHLDLLLVVGMGGVAALFGM 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                         ESQITTLIVSKPERKMVKGSGFHLDLLLVVGMGGVAALFGM

Mouse                         ESQITTLIVSKPERKMIKGSGFHLDLLLVVGMGGVAALFGM

Rat                           ESQITTLIVSKPERKMIKGSGFHLDLLLVVGMGGVAALFGM

Chicken                       ETQITTLIVSKPERKLVKGSGFHLDLLLIVAMGGLAALFGM
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 – 911 Band 3 anion transport protein
Transmembrane 701 – 719 Helical; Name=9
Site 681 – 681 Important for anion-proton cotransport
Mutagenesis 681 – 681 E -> Q. Impairs expression at the cell membrane.



Literature citations
Novel AE1 mutations in recessive distal renal tubular acidosis: loss-of-function is rescued by glycophorin A.
Tanphaichitr V.S.; Sumboonnanonda A.; Ideguchi H.; Shayakul C.; Brugnara C.; Takao M.; Veerakul G.; Alper S.L.;
J. Clin. Invest. 102:2173-2179(1998)
Cited for: VARIANT DRTA4 ASP-701; Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells.
Bruce L.J.; Wrong O.; Toye A.M.; Young M.T.; Ogle G.; Ismail Z.; Sinha A.K.; McMaster P.; Hwaihwanje I.; Nash G.B.; Hart S.; Lavu E.; Palmer R.; Othman A.; Unwin R.J.; Tanner M.J.A.;
Biochem. J. 350:41-51(2000)
Cited for: VARIANTS DRTA4 ASP-701 AND VAL-850 DEL; VARIANT DRTA1 ASP-858; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; TRANSPORTER ACTIVITY; Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis.
Sritippayawan S.; Sumboonnanonda A.; Vasuvattakul S.; Keskanokwong T.; Sawasdee N.; Paemanee A.; Thuwajit P.; Wilairat P.; Nimmannit S.; Malasit P.; Yenchitsomanus P.T.;
Am. J. Kidney Dis. 44:64-70(2004)
Cited for: VARIANT DRTA4 HIS-602; VARIANTS DRTA-NRC ASP-701 AND PRO-773; Impaired trafficking and intracellular retention of mutant kidney anion exchanger 1 proteins (G701D and A858D) associated with distal renal tubular acidosis.
Ungsupravate D.; Sawasdee N.; Khositseth S.; Udomchaiprasertkul W.; Khoprasert S.; Li J.; Reithmeier R.A.; Yenchitsomanus P.T.;
Mol. Membr. Biol. 27:92-103(2010)
Cited for: CHARACTERIZATION OF VARIANT DRTA4 ASP-701; CHARACTERIZATION OF VARIANT DRTA1 ASP-858; SUBUNIT; SUBCELLULAR LOCATION; FUNCTION;
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.