Variant position: 335 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 RRWVYPLTPEANFTDSTTQS CTHSRHNIYRGPEVSLGHGSI
Mouse RRWVYPLTPEVNFTDSTTQS YTHSRHNIYRGPEVSLGHGSV
Rat RRWVYPLTPEVNFTDSSTQS YTHSRHNIYRGPEVSLGHGSV
Rabbit RRWVYPLTPEANFTDSTAQS CTHSRHNIYRGPEVSLGHGSI
Slime mold HRWTFPMVPDNNFMCN--SS YSLSRQMIYKEKNVKLLGDCL
Baker's yeast GRWCYPLVLDSNIQDD--QT YSYESRHIYKEKDVVLAQSCK
Fission yeast SRWVYPFVPDSNLLN---QT FSYQRHQIYKEEDVVLARSCI
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
322 – 322 Phosphothreonine
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 SER-68; THR-74; HIS-113; GLY-269; PHE-310 AND ARG-335;
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