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UniProtKB/Swiss-Prot Q9UKY4: Variant p.Tyr666Cys

Protein O-mannosyl-transferase 2
Gene: POMT2
Variant information

Variant position:  666
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 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:  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:  -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:  In MDDGB2 and MDDGA2.
Any additional useful information about the variant.

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

Sequence information

Variant position:  666
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  750
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 – 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)

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.