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UniProtKB/Swiss-Prot Q9Y2G1: Variant p.Gln403Arg

Myelin regulatory factor
Gene: MYRF
Variant information

Variant position:  403
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
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 Glutamine (Q) to Arginine (R) at position 403 (Q403R, p.Gln403Arg).
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 medium size and polar (Q) to large size and basic (R)
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

Involvement in disease:  Encephalitis/encephalopathy, mild, with reversible myelin vacuolization (MMERV) [MIM:618113]: An autosomal dominant disease characterized by episodes of acute encephalitis associated with impaired consciousness, delirious behavior, seizures, and reversible splenial lesions observed on diffusion magnetic resonance imaging. Most patients completely recover and there are no neurologic sequelae. MMERV occurs in children and is frequently associated with a trigger, such as a febrile illness. {ECO:0000269|PubMed:29265453}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In MMERV.
Any additional useful information about the variant.



Sequence information

Variant position:  403
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1151
The length of the canonical sequence.

Location on the sequence:   KGFNFSVGDDAFVCQKKNHF  Q VTVYIGMLGEPKYVKTPEGL
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                         KGFNFSVGDDAFVCQKKNHFQVTVYIGMLGEPKYVKTPEGL

Mouse                         KGFNFSVGDDAFVCQKKNHFQVTVYIGMLGEPKYVKTPEGL

Xenopus laevis                KGFNFSTGDDSFVCQKKNHFQVTVYIGMIGEPKYVKTPEGI

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 – 1151 Myelin regulatory factor
Chain 1 – 586 Myelin regulatory factor, N-terminal
Topological domain 1 – 768 Cytoplasmic
DNA binding 250 – 541 NDT80
Beta strand 402 – 410


Literature citations

MYRF is associated with encephalopathy with reversible myelin vacuolization.
Kurahashi H.; Azuma Y.; Masuda A.; Okuno T.; Nakahara E.; Imamura T.; Saitoh M.; Mizuguchi M.; Shimizu T.; Ohno K.; Okumura A.;
Ann. Neurol. 83:98-106(2018)
Cited for: INVOLVEMENT IN MMERV; VARIANT MMERV ARG-403;

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.