Variant position: 301 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 EARLLLERSHAAKCPDIATQ LAGTKKVQQELSRPGMLEMLL
Mouse EARLMLERSRAAKCPDIAIQ LAGTKKVQQELSRVGLLEALL
Rat EARLLLERSCAAKCPDIATQ LAGTKKVQQELSRVGLLEALL
Bovine EARLLLERSCAVKCPDIATQ LAGTKKVQQELSRVGVLESFL
Xenopus laevis EARLMLERSRAVKCPDVPTQ LVGTKKVQQELSRPQILEKFL
Slime mold KARLLIERSLAIKCPTIAHH LVGVKKIQQVLAQPGVLEKFI
Baker's yeast EARLFLEKSFAIKAPDLLTQ LSGSKKIQQLLTDEGVLGKYI
Fission yeast DMRLTIENTLAIKCPSISTH LAGSKKIQQVLAESNALERFL
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.
Recurrent isolated neonatal hemolytic anemia: think about glutathione synthetase deficiency.
Signolet I.; Chenouard R.; Oca F.; Barth M.; Reynier P.; Denis M.C.; Simard G.;
Cited for: VARIANTS GSS DEFICIENCY GLY-219 AND PRO-301;
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