UniProtKB/Swiss-Prot Q8N6R0: Variant p.Arg544Gln

eEF1A lysine and N-terminal methyltransferase
Gene: METTL13
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Variant information Variant position:

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

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

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 METTL13 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:

Protective factor against deafness; individuals homozygous for GAB1 deafness-associated variants have normal hearing in the presence of Q-544. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs145666727 [ dbSNP | Ensembl ]

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.

Type	Positions	Description
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.