Variant position: 38 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 QEEYEDPD---IPESQMEEPAAH DTEATATDY----HTTSHPGTHKVY
Mouse QIAYRDLT---IPVTEMQDPEAL PTEQTATDYVPSSTSTPH
Rat QIAYRDLD---IPVTEMQESEAL PTEQTATDYIPTSTSTSH
Chicken PEGYEDTKGSRTSLGTMSNPLVS DVDLEAAGS---RQPTAH
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
1 – 403 Cytoplasmic
1 – 40 Disordered
21 – 21 Phosphotyrosine
46 – 46 Phosphotyrosine
1 – 65 Missing. In isoform 2.
Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations.
Choo K.E.; Nicoli T.K.; Bruce L.J.; Tanner M.J.; Ruiz-Linares A.; Wrong O.M.;
Pediatr. Nephrol. 21:212-217(2006)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ALA-38;
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ALA-38; GLU-56; LYS-508 AND ILE-862;
Novel band 3 variants (bands 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus.
Miraglia del Giudice E.; Vallier A.; Maillet P.; Perrotta S.; Cutillo S.; Iolascon A.; Tanner M.J.; Delaunay J.; Alloisio N.;
Br. J. Haematol. 96:70-76(1997)
Cited for: VARIANT SPH4 ASN-783; VARIANTS ALA-38 AND MET-73;
Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population.
Yawata Y.; Kanzaki A.; Yawata A.; Doerfler W.; Oezcan R.; Eber S.W.;
Int. J. Hematol. 71:118-135(2000)
Cited for: VARIANTS SPH4 ARG-130; ARG-455; ARG-714; TRP-760; GLN-760; HIS-808; ARG-837 AND MET-837; VARIANTS ALA-38; GLU-56; ASP-72 AND LEU-854;
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.