Variant position: 447 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 PRSVLTSQVVVGPNITLPEG SVISLHPPDAEEDEDDGEFSD
Mouse PYCVLTSQVVVGPDITLPEG SVISLHPPDAEEDEDDGQFSD
Rat PHCVLTSQVVVGPDIILPEG SVISLHPPDAEEDEDDGQFSD
Rabbit PHCVLTSQVVVGPNITLPEG SVISLHPPDAEEDEDDGQFSD
Slime mold RGSIIGFNVYIGQSKTLEPF SKITMAQYNEDED--------
Baker's yeast DGCIIGFNVKIDDNMDLDRN TKISASPLKNAGS----RMYD
Fission yeast DGAIVAAGVVIGDNTIIEKN KRLTTFESHSQGT--------
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
444 – 483 Disordered
450 – 450 Phosphoserine
466 – 466 Phosphoserine
445 – 449
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;
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.