Variant position: 544 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 699 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 EIDPSMLEVATQWFGFSQSD RMKVHIADGLDYIASLAGGGE
Mouse EIDPTMLEVATQWFGFSQSD RMKVHIADGLDYITSLA--GE
Bovine EIDPSMLEVATQWFGFSQSD RMKVHIADGLDFITRLA-EEE
Xenopus laevis EIDPSVLDVASNWFNFCQDE RMKVHLADGLVHINSLADNGE
Zebrafish ELDPVVLDVAQTWFGFQIDD RLKVTLGDGLDHITTLESEGE
Drosophila EIDPIMLEVAEQYFELKQDK RFHVVIDDGLDFVERCR-NED
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 – 699 eEF1A lysine and N-terminal methyltransferase
524 – 524 E -> A. Loss of activity.
551 – 551 D -> A. Decreased activity.
Modifier variant of METTL13 suppresses human GAB1-associated profound deafness.
Yousaf R.; Ahmed Z.M.; Giese A.P.; Morell R.J.; Lagziel A.; Dabdoub A.; Wilcox E.R.; Riazuddin S.; Friedman T.B.; Riazuddin S.;
J. Clin. Invest. 128:1509-1522(2018)
Cited for: INTERACTION WITH GAB1 AND SPRY2; POLYMORPHISM; VARIANT GLN-544;
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