Sequence information
Variant position: 222 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 472 The length of the canonical sequence.
Location on the sequence:
EQYEQILAFVQGTVAEGAPI
I PISAQLKYNIEVVCEYIVKK
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 EQYEQILAFVQGTVAEGAPII PISAQLKYNIEVVCEYIVKK
Mouse EQYEQILAFVQGTVAEGAPII PISAQLKYNIEVVCEYIVKK
Rat EQYEQILAFVQGTVAEGAPII PISAQLKYNIEVVCEYIVKK
Bovine EQYEQILAFVQGTVAEGAPII PISAQLKYNIEVVCEYIVKK
Chicken EQYEQILAFVQGTVAEGAPII PISAQLKYSIEVVCEYIVKK
Zebrafish EQYEQILAFVQGTVAEGAPII PISAQLKYNIEVVCEYIVNK
Drosophila EQYEEITKFVQGTVAEGAPII PISAQLKYNIDVLCEYIVNK
Slime mold EQYGQILKFIQGTIAENAPII PISAQMKYNIDVICEYIVKK
Baker's yeast EHQKSILKFIRGTIADGAPIV PISAQLKYNIDAVNEFIVKT
Fission yeast EHYQSILKFIKGTVAENSPIV PISAQLKYNIDAILEYIVKK
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 – 472
Eukaryotic translation initiation factor 2 subunit 3
Domain
39 – 248
tr-type G
Literature citations
eIF2gamma mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.
Borck G.; Shin B.S.; Stiller B.; Mimouni-Bloch A.; Thiele H.; Kim J.R.; Thakur M.; Skinner C.; Aschenbach L.; Smirin-Yosef P.; Har-Zahav A.; Nuernberg G.; Altmueller J.; Frommolt P.; Hofmann K.; Konen O.; Nuernberg P.; Munnich A.; Schwartz C.E.; Gothelf D.; Colleaux L.; Dever T.E.; Kubisch C.; Basel-Vanagaite L.;
Mol. Cell 48:641-646(2012)
Cited for: INVOLVEMENT IN MEHMO; VARIANT MEHMO THR-222; CHARACTERIZATION OF VARIANT MEHMO THR-222; SUBUNIT;
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.