Variant position: 209 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 QNSLTQFMSI--PSS--VIHPAMV RLGLQYSQGLVSGSNARCIAL
Mouse QSSLTQYMSI--PSS--VIHPAMV RLGLQYSQGLISGSNAR
Rat QSSLTQYMSI--PSS--VIHPAMV RLGLQYSQGLVSGSNAR
Bovine QNSLTQFMSI--PSS--VIHPAMV RLGLQYSQGLVSGSNAR
Rabbit QNSLTQYMSI--PSS--VIHPAMV RLGLQYSQGLISGSNAR
Slime mold EFSMGVSVSTDEPNEKYPIHPDII SLGLKYAEFKIAGSNAR
Baker's yeast SSLISSVKELLLNKD--LIHPSIL LLTSHLAHYKIVGSIPR
Fission yeast RRTTENI-----PKD---IHPAVI RLGLKLANYKIFGSNQR
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
205 – 215
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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