Variant: rs121908677

present in Gene: SLC7A7 present in Chromosome: 14 Position on Chromosome: 22813238 Alleles of this Variant: C/A

rs121908677 in SLC7A7 gene and Lysinuric Protein Intolerance PMID 9829974 1998 Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance.

PMID 10080182 1999 Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.

PMID 10655553 2000 Five LPI mutations (L334R, G54V, 1291delCTTT, 1548delC and LPI(Fin)) were studied functionally.

PMID 15756301 2005 A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance.

PMID 12402335 2002 Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.

PMID 17764084 2008 Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.

PMID 15776427 2005 Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.

PMID 10631139 2000 Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.