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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y2G1: Variant p.Gly435Arg

Myelin regulatory factor
Gene: MYRF
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Variant information Variant position: help 435 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help 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: help 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: help -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
Variant description: help In CUGS. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 435 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1151 The length of the canonical sequence.
Location on the sequence: help 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         KYVKTPEGLKPLDCFYLKLHGVKLEALNQSINIEQSQSDRS

Mouse                         KYVKTPEGLKPLDCFYLKLHGVKLEALNQSINIEQSQSDRS

Xenopus laevis                KYVKTPEGILPIECFFLKLNGVKLEAINQAISIEQSQSDRS
Sequence annotation in neighborhood: help 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.