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UniProtKB/Swiss-Prot Q8N6R0: Variant p.Arg544Gln

eEF1A lysine and N-terminal methyltransferase
Gene: EEF1AKNMT
Variant information

Variant position:  544
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Glutamine (Q) at position 544 (R544Q, p.Arg544Gln).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (R) to medium size and polar (Q)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Polymorphism:  Genetic variants in EEF1AKNMT define the deafness modifier locus DFNB26M [MIM:605429]. The DFNB26M phenotype is characterized by normal hearing despite the presence of homozygosity for a causative deafness mutation in the GAB1 gene.
Additional information on the polymorphism described.

Variant description:  Rare polymorphism; acts as suppressor of deafness and is associated with normal hearing in individuals homozygous for a deafness-associated mutation in the GAB1 gene.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   EIDPSMLEVATQWFGFSQSD  R MKVHIADGLDYIASLAGGGE
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                         EIDPSMLEVATQWFGFSQSDRMKVHIADGLDYIASLAGGGE

Mouse                         EIDPTMLEVATQWFGFSQSDRMKVHIADGLDYITSLA--GE

Bovine                        EIDPSMLEVATQWFGFSQSDRMKVHIADGLDFITRLA-EEE

Xenopus laevis                EIDPSVLDVASNWFNFCQDERMKVHLADGLVHINSLADNGE

Zebrafish                     ELDPVVLDVAQTWFGFQIDDRLKVTLGDGLDHITTLESEGE

Drosophila                    EIDPIMLEVAEQYFELKQDKRFHVVIDDGLDFVERCR-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.

TypePositionsDescription
Chain 1 – 699 eEF1A lysine and N-terminal methyltransferase
Mutagenesis 524 – 524 E -> A. Loss of activity.
Mutagenesis 551 – 551 D -> A. Decreased activity.


Literature citations

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;

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.