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UniProtKB/Swiss-Prot Q9Y2G1: Variant p.Gly435Arg

Myelin regulatory factor
Gene: MYRF
Variant information

Variant position:  435
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 Glycine (G) to Arginine (R) at position 435 (G435R, p.Gly435Arg).
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 glycine (G) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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:  Cardiac-urogenital syndrome (CUGS) [MIM:618280]: An autosomal dominant syndrome characterized by partial anomalous pulmonary venous return, tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism. {ECO:0000269|PubMed:29446546, ECO:0000269|PubMed:30070761, ECO:0000269|PubMed:30532227}. Note=The disease is 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 CUGS.
Any additional useful information about the variant.



Sequence information

Variant position:  435
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:   KYVKTPEGLKPLDCFYLKLH  G VKLEALNQSINIEQSQSDRS
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                         KYVKTPEGLKPLDCFYLKLHGVKLEALNQSINIEQSQSDRS

Mouse                         KYVKTPEGLKPLDCFYLKLHGVKLEALNQSINIEQSQSDRS

Xenopus laevis                KYVKTPEGILPIECFFLKLNGVKLEAINQAISIEQSQSDRS

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
Mutagenesis 454 – 454 R -> A. Decreased affinity for DNA.
Beta strand 428 – 437


Literature citations

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
Qi H.; Yu L.; Zhou X.; Wynn J.; Zhao H.; Guo Y.; Zhu N.; Kitaygorodsky A.; Hernan R.; Aspelund G.; Lim F.Y.; Crombleholme T.; Cusick R.; Azarow K.; Danko M.E.; Chung D.; Warner B.W.; Mychaliska G.B.; Potoka D.; Wagner A.J.; ElFiky M.; Wilson J.M.; Nickerson D.; Bamshad M.; High F.A.; Longoni M.; Donahoe P.K.; Chung W.K.; Shen Y.;
PLoS Genet. 14:E1007822-E1007822(2018)
Cited for: INVOLVEMENT IN CUGS; VARIANTS CUGS ARG-435; 596-GLN--ASP-1151 DEL; ALA-679 AND HIS-695;

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.