Sequence information
Variant position: 127 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:
ESLHKLLTSGGLNEDFSFHY
A QLQSNIIEAINELLVELEGT
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 ESLHKLLTSGGLNE----------------------DFSFHYA -----------QLQSNIIEAINELLVELEGT
Mouse ESLHKLLTSGGLSE----------------------DFSFH
Rat ESLHKLLTSGGLSE----------------------DFSFH
Bovine ESLHKLLTSGGLSE----------------------DFRSH
Rabbit ESLHKLLTSGGLSE----------------------DFSFH
Slime mold NNNNNINSSSNINKNNKYSNVMLQDDPID--DQEDIDFTET
Baker's yeast DTMSTTVTSTSVAE-------PLISSMFNLLQKPEQPHQNR
Fission yeast SQKRDIPSNEKLVQSHEPVSVQMYSSMLNLLGRPTLESPTH
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
1 – 351
Translation initiation factor eIF-2B subunit beta
Helix
127 – 145
Literature citations
Identification of novel genetic causes of Rett syndrome-like phenotypes.
Lopes F.; Barbosa M.; Ameur A.; Soares G.; de Sa J.; Dias A.I.; Oliveira G.; Cabral P.; Temudo T.; Calado E.; Cruz I.F.; Vieira J.P.; Oliveira R.; Esteves S.; Sauer S.; Jonasson I.; Syvaenen A.C.; Gyllensten U.; Pinto D.; Maciel P.;
J. Med. Genet. 53:190-199(2016)
Cited for: VARIANT VAL-127;
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.