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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UKY4: Variant p.Tyr666Cys

Protein O-mannosyl-transferase 2
Gene: POMT2
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Variant information Variant position: help 666 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 Tyrosine (Y) to Cysteine (C) at position 666 (Y666C, p.Tyr666Cys). 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 large size and aromatic (Y) to medium size and polar (C) 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 MDDGB2 and MDDGA2. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 666 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 750 The length of the canonical sequence.
Location on the sequence: help GWTLHYFPFFLMGRVLYFHH Y FPAMLFSSMLTGILWDTLLR 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                         GWTLHYFPFFLMGRVLYFHHYFPAMLFSSMLTGILWDTLLR

Mouse                         GWMLHYFPFFLMGRILYFHHYFPAMLFSSMLTGILWDTLLR

Zebrafish                     GWLLHYLPFYIMGRILYYHHYFPAMMFSSMLTGITLDILLQ

Drosophila                    GWMLHYLPFWAMGRVLYFHHYFPALIFNSLLTGVMYNYILR

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 – 750 Protein O-mannosyl-transferase 2
Transmembrane 665 – 685 Helical
Alternative sequence 83 – 750 Missing. In isoform 2.



Literature citations
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Godfrey C.; Clement E.; Mein R.; Brockington M.; Smith J.; Talim B.; Straub V.; Robb S.; Quinlivan R.; Feng L.; Jimenez-Mallebrera C.; Mercuri E.; Manzur A.Y.; Kinali M.; Torelli S.; Brown S.C.; Sewry C.A.; Bushby K.; Topaloglu H.; North K.; Abbs S.; Muntoni F.;
Brain 130:2725-2735(2007)
Cited for: VARIANTS MDDGA2 ASN-198; PHE-373; PRO-413 AND CYS-666; VARIANTS MDDGC2 MET-184 AND SER-748; New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.
Yanagisawa A.; Bouchet C.; Van den Bergh P.Y.; Cuisset J.M.; Viollet L.; Leturcq F.; Romero N.B.; Quijano-Roy S.; Fardeau M.; Seta N.; Guicheney P.;
Neurology 69:1254-1260(2007)
Cited for: VARIANTS MDDGB2 CYS-666 AND ARG-748; POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.
Yanagisawa A.; Bouchet C.; Quijano-Roy S.; Vuillaumier-Barrot S.; Clarke N.; Odent S.; Rodriguez D.; Romero N.B.; Osawa M.; Endo T.; Taratuto A.L.; Seta N.; Guicheney P.;
Eur. J. Med. Genet. 52:201-206(2009)
Cited for: VARIANTS MDDGA2 VAL-482; 444-ILE-ASN-445 DELINS LEU-LEU-TRP-GLN AND CYS-666; Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
Mercuri E.; Messina S.; Bruno C.; Mora M.; Pegoraro E.; Comi G.P.; D'Amico A.; Aiello C.; Biancheri R.; Berardinelli A.; Boffi P.; Cassandrini D.; Laverda A.; Moggio M.; Morandi L.; Moroni I.; Pane M.; Pezzani R.; Pichiecchio A.; Pini A.; Minetti C.; Mongini T.; Mottarelli E.; Ricci E.; Ruggieri A.; Saredi S.; Scuderi C.; Tessa A.; Toscano A.; Tortorella G.; Trevisan C.P.; Uggetti C.; Vasco G.; Santorelli F.M.; Bertini E.;
Neurology 72:1802-1809(2009)
Cited for: VARIANTS MDDGB2 ASP-246; SER-353; CYS-666 AND GLU-726;
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.