SGCD S151A - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

SGCD S151A

(SGCD Ser151Ala)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the SGCD gene
    Limb-Girdle Muscular Dystrophies, Autosomal Recessive
    Sarcoglycanopathies
    Dilated Cardiomyopathy
    Delta-Sarcoglycanopathy
    SGCD-Related Dilated Cardiomyopathy
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SGCD
    Web search results (11 hits -- see all)
  • PLoS ONE: Serial Examination of an Inducible and Reversible ...
    Figure 2. Expression of S151A-SGCD precedes cardiac function changes ... p<0.05 for S151A-SGCD expression at indicted time vs. baseline; # p<0.05 for wt-SGCD expression at the ...
    plosone.org/article/info:doi/10.1371/journal.pone.0007132
  • Mendelian Inheritance in Man Document Reader
    They found that only Sgcd null mice developed cardiomyopathy with ... the SGCD gene, resulting in a ser151-to-ala (S151A) mutation, in a family with dilated ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+601411
  • Nuclear sequestration of d-sarcoglycan disrupts the nuclear ...
    expressed the d-sarcoglycan S151A mutation under the control ... of function alleles of Sgcd and heterozygous Sgcd mice do. not display cardiomyopathy, ...
    hmg.oxfordjournals.org/cgi/reprint/16/4/355.pdf
  • Reduced life span with heart and muscle dysfunction in ...
    model of a d-sarcoglycan gene mutation, S151A, recapitulates ... Uninjected wild-type muscle and uninjected Sgcd null muscle are shown on the left, ...
    hmg.oxfordjournals.org/cgi/reprint/16/23/2933.pdf
  • Type I- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... GALC P54803 Y551S 551 VAR_003403 Src (0.816) GLD, belgian patient PLK4 O00444 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • OMIM: 601411
    Mutations affecting the secondary structure of SGCD were identified in 1 family (S151A; 601411.0006) and in 2 sporadic cases (K238del; 601411.0005) ...
    www.genome.jp/dbget-bin/www_bget?omim+601411
  • OMIM: 606685
    They screened the human SGCD gene in patients with DCM by SSCP analysis and DNA sequencing. ... relevance of the S151A variant, and of the SGCD gene itself, in dilated ...
    www.genome.jp/dbget-bin/www_bget?omim+606685
  • WikiGenes - Sgcd - sarcoglycan, delta (dystrophin-associated...
    The world's first wiki where authorship really matters. Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts.
    www.wikigenes.org/e/gene/e/24052.html
  • Sarcoglycans - beta Sarcoglycan Summary Report | CureHunter
    Sarcoglycans: A family of transmembrane dystrophin-associated proteins that plays a role in the membrane association of the DYSTROPHIN-ASSOCIATED PROTEIN ...
    curehunter.com/public/keywordSummaryD049031-43-kDa-Dystro...

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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