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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P49770: Variant p.Gly200Val

Translation initiation factor eIF2B subunit beta
Gene: EIF2B2
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Variant information Variant position: help 200
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Valine (V) at position 200 (G200V, p.Gly200Val).
Physico-chemical properties: help Change from glycine (G) to medium size and hydrophobic (V)
BLOSUM score: help -3
Variant description: help In VWM2.
Other resources: help


Sequence information Variant position: help 200
Protein sequence length: help 351
Location on the sequence: help EAARKRKFHVIVAECAPFCQ G HEMAVNLSKAGIETTVMTDA
Residue conservation: help
Human                         EAARK--RKFHVIVAECAPFCQ--GHEMAVNLSKAGIETTVMTDA

Mouse                         EAARK--RKFHVIVAECAPFCQ--GHEMAVNLSKEGIETTV

Rat                           EAAQK--RKFHVIAAECAPFCQ--GHEMAVNLSEAGIETTV

Bovine                        EAARK--RKFHVIVAECAPFCQ--GHEMAVNLSKAGIETTV

Rabbit                        EAARK--RKFHVIVAECAPFCQ--GHEMAVNLSKAGIETTV

Slime mold                    EAARK--RSFKVIVVETAPSLE--GQKTAISLSKASIDTTL

Baker's yeast                 TARERSNRTFTVLVTEGFPNNTKNAHEFAKKLAQHNIETLV

Fission yeast                 FAAKK--RKFSVIVAEGFPNNQKGSHAMAKRLAQAGIDTTV

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 351 Translation initiation factor eIF2B subunit beta
Helix 200 – 209



Literature citations
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 VWM2 PHE-171; SER-196; VAL-200 AND GLY-213;
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.