present in Gene: SPTB
present in Chromosome: 14
Position on Chromosome: 64767725
Alleles of this Variant: C/G
rs121918645 in
SPTB gene and
ELLIPTOCYTOSIS 3
PMID 1975598 1990 Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association.
PMID 8226774 1993 Spectrin cagliari. an Ala-->Gly substitution in helix 1 of beta spectrin repeat 17 that severely disrupts the structure and self-association of the erythrocyte spectrin heterodimer.
PMID 7883966 1995 Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene.
PMID 8018926 1994 Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site.