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UniProtKB/Swiss-Prot Q9HCE0: Variant p.Gln336Arg

Ectopic P granules protein 5 homolog
Gene: EPG5
Variant information

Variant position:  336
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 336 (Q336R, p.Gln336Arg).
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:  Vici syndrome (VICIS) [MIM:242840]: A rare congenital multisystem disorder characterized by agenesis of the corpus callosum, cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy. {ECO:0000269|PubMed:23222957, ECO:0000269|PubMed:25331754, ECO:0000269|PubMed:26917586, ECO:0000269|PubMed:27343256, ECO:0000269|PubMed:28168853, ECO:0000269|PubMed:29130391}. Note=The disease is caused by mutations affecting the gene represented in this entry. Affected individuals show homozygosity or compound heterozygosity for truncating mutations, aberrant splicing and/or missense mutations. Parental studies suggest recessive inheritance with no carrier manifestation (PubMed:23222957). {ECO:0000269|PubMed:23222957}.
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 VICIS; relatively mild phenotype characterized by absence or later onset of cardiac or immunologic features; a normally spliced transcript with the missense variant and multiple misspliced transcripts are detected in patient cells; results in 50% decrease of mRNA levels in patient cells most probably due to nonsense-mediated decay of misspliced transcripts.
Any additional useful information about the variant.

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

Sequence information

Variant position:  336
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  2579
The length of the canonical sequence.

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.






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.

Chain 1 – 2579 Ectopic P granules protein 5 homolog

Literature citations

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
Cullup T.; Kho A.L.; Dionisi-Vici C.; Brandmeier B.; Smith F.; Urry Z.; Simpson M.A.; Yau S.; Bertini E.; McClelland V.; Al-Owain M.; Koelker S.; Koerner C.; Hoffmann G.F.; Wijburg F.A.; ten Hoedt A.E.; Rogers R.C.; Manchester D.; Miyata R.; Hayashi M.; Said E.; Soler D.; Kroisel P.M.; Windpassinger C.; Filloux F.M.; Al-Kaabi S.; Hertecant J.; Del Campo M.; Buk S.; Bodi I.; Goebel H.H.; Sewry C.A.; Abbs S.; Mohammed S.; Josifova D.; Gautel M.; Jungbluth H.;
Nat. Genet. 45:83-87(2013)
Cited for: VARIANTS VICIS ARG-336; PRO-457; PRO-784; 859-GLU--ARG-2579 DEL; 1161-ARG--ARG-2579 DEL; 1530-GLN--ARG-2579 DEL; 1584-LEU--ARG-2579 DEL; 1595-GLN--ARG-2579 DEL; 1945-CYS--ARG-2579 DEL; ARG-2038 AND 2078-ARG--ARG-2579 DEL; FUNCTION; INVOLVEMENT IN VICIS;

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Byrne S.; Jansen L.; U-King-Im J.M.; Siddiqui A.; Lidov H.G.; Bodi I.; Smith L.; Mein R.; Cullup T.; Dionisi-Vici C.; Al-Gazali L.; Al-Owain M.; Bruwer Z.; Al Thihli K.; El-Garhy R.; Flanigan K.M.; Manickam K.; Zmuda E.; Banks W.; Gershoni-Baruch R.; Mandel H.; Dagan E.; Raas-Rothschild A.; Barash H.; Filloux F.; Creel D.; Harris M.; Hamosh A.; Koelker S.; Ebrahimi-Fakhari D.; Hoffmann G.F.; Manchester D.; Boyer P.J.; Manzur A.Y.; Lourenco C.M.; Pilz D.T.; Kamath A.; Prabhakar P.; Rao V.K.; Rogers R.C.; Ryan M.M.; Brown N.J.; McLean C.A.; Said E.; Schara U.; Stein A.; Sewry C.; Travan L.; Wijburg F.A.; Zenker M.; Mohammed S.; Fanto M.; Gautel M.; Jungbluth H.;
Brain 139:765-781(2016)
Cited for: VARIANTS VICIS 46-GLN--ARG-2579 DEL; ARG-336; 417-ARG--ARG-2579 DEL; 1161-ARG--ARG-2579 DEL; 1989-TRP--ARG-2579 DEL; 1998-SER--ARG-2579 DEL; 2028-TRP--ARG-2579 DEL; PRO-2092; LYS-2414; 2445-ARG--ARG-2579 DEL AND 2483-ARG--ARG-2579 DEL;

Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.
Kane M.S.; Vilboux T.; Wolfe L.A.; Lee P.R.; Wang Y.; Huddleston K.C.; Vockley J.G.; Niederhuber J.E.; Solomon B.D.;
Brain 139:E52-E52(2016)

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.