Variant position: 196 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 351 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 AFLKEAARK--RKFHVIVAECA PFCQ--GHEMAVNLSKAGIETTV
Mouse AFLKEAARK--RKFHVIVAECA PFCQ--GHEMAVNLSKEGI
Rat AFLREAAQK--RKFHVIAAECA PFCQ--GHEMAVNLSEAGI
Bovine AFLREAARK--RKFHVIVAECA PFCQ--GHEMAVNLSKAGI
Rabbit AFLREAARK--RKFHVIVAECA PFCQ--GHEMAVNLSKAGI
Slime mold EFLKEAARK--RSFKVIVVETA PSLE--GQKTAISLSKASI
Baker's yeast KFLITARERSNRTFTVLVTEGF PNNTKNAHEFAKKLAQHNI
Fission yeast AFLRFAAKK--RKFSVIVAEGF PNNQKGSHAMAKRLAQAGI
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
1 – 351 Translation initiation factor eIF-2B subunit beta
195 – 198
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 PHE-171; SER-196; VAL-200 AND GLY-213;
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.