Variant position: 62 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 721 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 PLQAVLVADSFDRRFFPISK DQPRVLLPLANVALIDYTLEF
Mouse PLQAVLVADSFNRRFFPISK DQPRVLLPLANVALIDYTLEF
Rat PLQAVLVADSFDRRFFPISK DQPRVLLPLANVALIDYTLEF
Rabbit PLQAVLVADSFNRRFFPISK DQPRVLLPLANVALIDYTLEF
Slime mold ILQAVVLGDSFDRKFAPITL EKPRTLLPLVNIPLLDYTLEF
Baker's yeast RLQAVVLTDSYETRFMPLTA VKPRCLLPLANVPLIEYTLEF
Fission yeast ALQAIVLSDSYNYRFRPLTL DKPRCLLPLANTPLIEYTFEF
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 – 721 Translation initiation factor eIF-2B subunit epsilon
61 – 61 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.
Wu Y.; Pan Y.; Du L.; Wang J.; Gu Q.; Gao Z.; Li J.; Leng X.; Qin J.; Wu X.; Jiang Y.;
J. Hum. Genet. 54:74-77(2009)
Cited for: VARIANTS VWM VAL-62; CYS-113; GLN-269; CYS-315; SER-335; PRO-339; ASP-376; VAL-386 AND LEU-447;
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