Variant position: 269 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 523 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 SRDLVNKLKPYMSFLTQCRP LSASMHNAIKFLNKEITSVGS
Mouse SRDLVNKLKPYISFLTQCRP MSASMCNAIKFLTKEVTGMSS
Rat SRDLVNKLKPYISFLTQCRP MSASMCNAIKFFNKEVTGMSS
Bovine SRDLVNKLKPYFSFLTQCRP LSASMYNAIKLLNKEITGVSG
Rabbit SRDLVNKLKPYICFLTQCRP LSASMYNAIKFLNKEITGVSS
Slime mold SRELDSLLKRNIQFLVDCRP ISISMGNSINYVKHKLSLTN-
Baker's yeast SRNLTSYLSHQIDLLKKARP LSVTMGNAIRWLKQEISLIDP
Fission yeast SRHLTTHINSQIAYLVSTRP LSISMGNAIRFLKLEISVLDI
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
2 – 523 Translation initiation factor eIF-2B subunit delta
Identification of ten novel mutations in patients with eIF2B-related disorders.
Ohlenbusch A.; Henneke M.; Brockmann K.; Goerg M.; Hanefeld F.; Kohlschutter A.; Gartner J.;
Hum. Mutat. 25:411-411(2005)
Cited for: VARIANTS VWM GLN-209; ARG-269 AND CYS-374;
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