Variant position: 701 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 911 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 ESQITTLIVSKPERKMVKGS GFHLDLLLVVGMGGVAALFGM
Mouse ESQITTLIVSKPERKMIKGS GFHLDLLLVVGMGGVAALFGM
Rat ESQITTLIVSKPERKMIKGS GFHLDLLLVVGMGGVAALFGM
Chicken ETQITTLIVSKPERKLVKGS GFHLDLLLIVAMGGLAALFGM
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 – 911 Band 3 anion transport protein
701 – 719 Helical; Name=9
681 – 681 Important for anion-proton cotransport
681 – 681 E -> Q. Impairs expression at the cell membrane.
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;
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;
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.