Variant position: 283 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 474 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 VVYFRDGYMPRQYSLQ---NWEA RLLLERSHAAKCPDIATQLAG
Mouse VVYFRDGYMPSQYNSQ---NWEA RLMLERSRAAKCPDIAIQ
Rat VVYFRDGYMPSQYNAQ---NWEA RLLLERSCAAKCPDIATQ
Bovine VVYFRDGYMPGHYSLQ---NWEA RLLLERSCAVKCPDIATQ
Xenopus laevis VAYFRTGYVPQDYTEQ---DWEA RLMLERSRAVKCPDVPTQ
Slime mold VAYYRAGYTPNDYTSSGGDEWKA RLLIERSLAIKCPTIAHH
Baker's yeast VVYYRTGYTTTDYTSE--KDWEA RLFLEKSFAIKAPDLLTQ
Fission yeast VVYYRVGYALDDYPSQ--EAWDM RLTIENTLAIKCPSISTH
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.
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.
Shi Z.-Z.; Habib G.M.; Rhead W.J.; Gahl W.A.; He X.; Sazer S.; Lieberman M.W.;
Nat. Genet. 14:361-365(1996)
Cited for: VARIANTS GSS DEFICIENCY GLY-219; TRP-267 AND CYS-283;
Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.
Dahl N.; Pigg M.; Ristoff E.; Gali R.; Carlsson B.; Mannervik B.; Larsson A.; Board P.;
Hum. Mol. Genet. 6:1147-1152(1997)
Cited for: VARIANTS GSS DEFICIENCY ASP-26; PRO-188; GLY-219; ARG-254; TRP-267; CYS-270; HIS-270; CYS-283; GLN-286; CYS-330; VAL-464 AND GLU-469; CHARACTERIZATION OF VARIANTS GSS DEFICIENCY PRO-188; CYS-270; HIS-270 AND CYS-283; FUNCTION; CATALYTIC ACTIVITY; PATHWAY;
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.