present in Gene: SLC4A1
present in Chromosome: 17
Position on Chromosome: 44251588
Alleles of this Variant: C/T
rs121912741 in
SLC4A1 gene and
Spherocytosis, Type 4
PMID 16227998 2005 Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.
PMID 8943874 1996 Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency.
PMID 10580570 1999 Arginine 490 is a hot spot for mutation in the band 3 gene in hereditary spherocytosis.
PMID 10942416 2000 Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3.
PMID 11380459 2001 Band 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III.
PMID 8547122 1995 Band 3 Chur: a variant associated with band 3-deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11.
PMID 9207478 1997 Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis.
PMID 9233560 1997 Heterogenous band 3 deficiency in hereditary spherocytosis related to different band 3 gene defects.
PMID 10745622 2000 Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population.
PMID 7530501 1995 Mutations of conserved arginines in the membrane domain of erythroid band 3 lead to a decrease in membrane-associated band 3 and to the phenotype of hereditary spherocytosis.
PMID 9973643 1998 Band 3 Tokyo: Thr837-->Ala837 substitution in erythrocyte band 3 protein associated with spherocytic hemolysis.
PMID 9012689 1997 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.
PMID 1378323 1992 Band 3 Tuscaloosa: Pro327----Arg327 substitution in the cytoplasmic domain of erythrocyte band 3 protein associated with spherocytic hemolytic anemia and partial deficiency of protein 4.2.
PMID 8640229 1996 Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis.
PMID 15813913 2005 Band 3Tambaú: a de novo mutation in the AE1 gene associated with hereditary spherocytosis. Implications for anion exchange and insertion into the red blood cell membrane.