Sequence information
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:
PLQAVLVADSFDRRFFPISK
D QPRVLLPLANVALIDYTLEF
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 PLQAVLVADSFDRRFFPISKD QPRVLLPLANVALIDYTLEF
Mouse PLQAVLVADSFNRRFFPISKD QPRVLLPLANVALIDYTLEF
Rat PLQAVLVADSFDRRFFPISKD QPRVLLPLANVALIDYTLEF
Rabbit PLQAVLVADSFNRRFFPISKD QPRVLLPLANVALIDYTLEF
Slime mold ILQAVVLGDSFDRKFAPITLE KPRTLLPLVNIPLLDYTLEF
Baker's yeast RLQAVVLTDSYETRFMPLTAV KPRCLLPLANVPLIEYTLEF
Fission yeast ALQAIVLSDSYNYRFRPLTLD KPRCLLPLANTPLIEYTFEF
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
Chain
2 – 721
Translation initiation factor eIF-2B subunit epsilon
Cross
61 – 61
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Literature citations
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;
Disclaimer:
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.