Variant position: 386 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 511 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 GIMALIYLCVEDIFQLINYY SFSYWFFVGLSIVGQLYLRWK
Mouse GVLSLVYLCVEDIFQLINYY SFSYWFFVGLSIVGQLYLRWK
Rat GILALVYLCVEDIFQLINYY SFSYWFFVGLSIVGQLYLRWK
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 – 511 Y+L amino acid transporter 1
383 – 403 Helical
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.
Sperandeo M.P.; Bassi M.T.; Riboni M.; Parenti G.; Buoninconti A.; Manzoni M.; Incerti B.; Larocca M.R.; Di Rocco M.; Strisciuglio P.; Dianzani I.; Parini R.; Candito M.; Endo F.; Ballabio A.; Andria G.; Sebastio G.; Borsani G.;
Am. J. Hum. Genet. 66:92-99(2000)
Cited for: VARIANT LPI ARG-386;
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.
Sperandeo M.P.; Annunziata P.; Ammendola V.; Fiorito V.; Pepe A.; Soldovieri M.V.; Taglialatela M.; Andria G.; Sebastio G.;
Hum. Mutat. 25:410-410(2005)
Cited for: VARIANTS LPI LYS-50; ILE-188 AND MET-333; CHARACTERIZATION OF VARIANTS LPI LYS-50; ILE-188 AND ARG-386;
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.
Sperandeo M.P.; Andria G.; Sebastio G.;
Hum. Mutat. 29:14-21(2008)
Cited for: VARIANTS LPI ILE-5; GLU-36 DEL; LYS-50; LEU-53; VAL-54; PRO-124; PRO-140; LEU-152; ILE-188; GLU-191; PHE-238; ASP-251; PRO-261; MET-333; ARG-334; ASP-338; TYR-365; ARG-386 AND PRO-489;
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.