UniProtKB/Swiss-Prot Q9HCE0: Variant p.Gln336Arg

Ectopic P granules protein 5 homolog
Gene: EPG5
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Variant information Variant position:

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

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:

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
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.

Variant rs201757275 [ dbSNP | Ensembl ]

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.
Location on the sequence:

SDCQNAKSRLWQFKEEQMSV Q GICADQVKVFSYHRYQRVEM 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                         SDCQNAKSRLWQFKEEQMSVQGICADQVKVFSYHRYQRVEM

Mouse                         SDCHSAKSRLWHFKDEQMAVQGICADQVKVYGHHHYQRVEM

Zebrafish                     SDCKNVQNRLWSFKDERLSLQGICADQNKVYGYHCYQQVTL

Caenorhabditis elegans        EELQKCLRECWVQQSLSVDAKGKCGDNNDGTGRASYFSFEL

Drosophila                    KGCAESQKQIWVRQPVTRTFSGTCGDGNVVQECVTYDVIQV

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 – 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)
Cited for: CHARACTERIZATION OF VARIANT VICIS ARG-336;

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.