rs119478058
This is a variant in the AMN gene that changes a threonine to an isoleucine.
▶ClinVar annotation
Imerslund-Grasbeck syndrome; Imerslund-Grasbeck syndrome type 2
View on ClinVar →▶Research that mentions this SNP (1)
▶Genetically heterogeneous selective intestinal malabsorption of vitamin B12: Founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle EastAssociationN=42Stephan M. Tanner et al.(2004)· Human Mutation
This study identified mutations in CUBN and AMN genes causing selective intestinal malabsorption of vitamin B12 (megaloblastic anemia) across 42 families. All 20 Finnish families had CUBN mutations (predominantly a founder mutation P1297L), all 4 Norwegian families had AMN mutations (founder mutation G5fs), while Mediterranean families (Turkey, Israel, Saudi Arabia) carried multiple mutations in both genes. Haplotype analysis excluded both genes in 5 families, suggesting at least one additional disease locus. The geographic clustering is explained by founder effects in Scandinavia and high consanguinity plus clinical awareness in the Middle East.
About AMN
The protein encoded by this gene is a type I transmembrane protein. It is thought to modulate bone morphogenetic protein (BMP) receptor function by serving as an accessory or coreceptor, and thus facilitates or hinders BMP binding. It is known that the mouse AMN gene is expressed in the extraembryonic visceral endoderm layer during gastrulation, but it is found to be mutated in amnionless mouse. The encoded protein has sequence similarity to short gastrulation (Sog) and procollagen IIA proteins in Drosophila. [provided by RefSeq, Jul 2008]
View all AMN variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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