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UniProtKB/Swiss-Prot Q9Y5P6: Variant p.Val330Ile

Mannose-1-phosphate guanyltransferase beta
Gene: GMPPB
Variant information

Variant position:  330
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 Valine (V) to Isoleucine (I) at position 330 (V330I, p.Val330Ile).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  3
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 MDDGC14; causes protein aggregation.
Any additional useful information about the variant.

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



Sequence information

Variant position:  330
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  360
The length of the canonical sequence.

Location on the sequence:   WRCRVGQWVRMENVTVLGED  V IVNDELYLNGASVLPHKSIG
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                         WRCRVGQWVRMENVTVLGEDVIVNDELYLNGASVLPHKSIG

Mouse                         WRCRVGQWVRMENVTVLGEDVIVNDELYLNGASVLPHKSIG

Pig                           WRCRVGQWVRMENVTVLGEDVIVNDELYLNGASVLPHKSIG

Bovine                        WRCRVGQWVRMENVTVLGEDVIVNDELYLNGASVLPHKSIG

Xenopus tropicalis            WSSSVGQWVRMENVTVLGEDVIVNDELYLNGANVLPHKCIS

Zebrafish                     WSSSVGQWVRMENVTVLGEDVIVNDELYINGANVLPHKSIT

Caenorhabditis elegans        RKCHIGSWVRIENICVIGDDVVVKDELYLNGASVLPHKSIA

Drosophila                    WRSTVGRWVRIEGITVLGEDVIVKDELYINGGQVLPHKSIA

Slime mold                    WNSSIGKWVRMENTSVLGEDVHVSDELYINGGKILPHKSIT

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 – 360 Mannose-1-phosphate guanyltransferase beta
Alternative sequence 317 – 317 W -> WVSLWAGLGGERGGECACLPDKAYPLLE. In isoform 2.


Literature citations

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of alpha-dystroglycan.
Carss K.J.; Stevens E.; Foley A.R.; Cirak S.; Riemersma M.; Torelli S.; Hoischen A.; Willer T.; van Scherpenzeel M.; Moore S.A.; Messina S.; Bertini E.; Boennemann C.G.; Abdenur J.E.; Grosmann C.M.; Kesari A.; Punetha J.; Quinlivan R.; Waddell L.B.; Young H.K.; Wraige E.; Yau S.; Brodd L.; Feng L.; Sewry C.; MacArthur D.G.; North K.N.; Hoffman E.; Stemple D.L.; Hurles M.E.; van Bokhoven H.; Campbell K.P.; Lefeber D.J.; Lin Y.Y.; Muntoni F.;
Am. J. Hum. Genet. 93:29-41(2013)
Cited for: SUBCELLULAR LOCATION; VARIANT MDDGA14 ASN-334; VARIANTS MDDGB14 LEU-32; CYS-185 AND GLN-287; VARIANTS MDDGC14 SER-22; HIS-27 AND ILE-330; CHARACTERIZATION OF VARIANT MDDGA14 ASN-334; CHARACTERIZATION OF VARIANTS MDDGB14 LEU-32; CYS-185 AND GLN-287; CHARACTERIZATION OF VARIANTS MDDGC14 SER-22; HIS-27 AND ILE-330;

GMPPB-associated dystroglycanopathy: Emerging common variants with phenotype correlation.
Jensen B.S.; Willer T.; Saade D.N.; Cox M.O.; Mozaffar T.; Scavina M.; Stefans V.A.; Winder T.L.; Campbell K.P.; Moore S.A.; Mathews K.D.;
Hum. Mutat. 36:1159-1163(2015)
Cited for: VARIANTS MDDGC14 HIS-27; SER-32; CYS-132; THR-219; SER-241; MET-254; GLN-287; TRP-287; ALA-318 AND ILE-330;

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.