SLC16A2 S107P - GET-Evidence

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

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Curation:
Currentness:

SLC16A2 S107P

(SLC16A2 Ser107Pro)


Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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

  • C @ chrX:73641569: 46.2% (3835/8296) in EVS
  • C @ chrX:73558293: 44.4% (20/45) in GET-Evidence
  • Frequency shown in summary reports: 46.2% (3835/8296)

Publications
 

Genomes
 

 

 

 

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom C @ chrX:73641569

 

 

 

 

 

GS18505 - var-GS18505-1100-36-ASM
hom C @ chrX:73558294

 

GS18940 - var-GS18940-1100-36-ASM
hom C @ chrX:73558294

 

GS18947 - var-GS18947-1100-36-ASM
hom C @ chrX:73558294

 

GS19020 - var-GS19020-1100-36-ASM
hom C @ chrX:73558294

 

GS19701 - var-GS19701-1100-36-ASM
hom C @ chrX:73558294

 

GS19704 - var-GS19704-1100-36-ASM
hom C @ chrX:73558294

 

Other external references
 

    dbSNP
  • rs6647476
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (13 hits -- see all)
  • IngentaConnect Table Of Contents: Clinical Endocrinology
    ISSN 0300-0664, Online ISSN: 1365-2265. Publisher: Blackwell ... the S107P polymorphism (rs6647476) of the monocarboxylate transporter 8 (SLC16A2) gene in ...
    ingentaconnect.com/content/bsc/cend/2009/00000070/00000004
  • Journal of Clinical Investigation -- Abnormal thyroid hormone ...
    ... SLC16A2) lead to severe forms of psychomotor retardation combined ... analysis of the S107P polymorphism (rs6647476) of the monocarboxylate transporter 8 (SLC16A2) gene in the ...
    www.jci.org/articles/view/28253
  • Molecular aspects of thyroid hormone transporters, including ...
    All Versions of this Article: JME-09-0042v1. 44/1/1 most recent. Alert ... S107P polymorphism (rs6647476) of the monocarboxylate transporter 8 (SLC16A2) gene in the ...
    jme.endocrinology-journals.org/cgi/content/full/44/1/1
  • lipodistrofia
    da resistencia á insulina en diferentes síndromes metabólicos (obesidade, diabete ... S107P polymorphism (rs6647476) of the monocarboxylate transporter 8 (SLC16A2) gene in the ...
    www.usc.es/medicina/UETeM.html
  • IDIS: Área de Genética Ángel Carracedo
    Codirectores: L. Loidi FPGMX y Niels Krone, University. Hospital of Birmingham, UK ... rs6647476(S107P) of the SLC16A2 gene in the male population of North ...
    idisantiago.es/Investigacion/1.Proyecto Cient%C3%ADfico d...
  • Pharmacy Choice - Pharmaceutical News - Findings from ...
    The SLC16A2 S107P SNP was found in 36% of Galician males. With the present sample size we ... The S107P change in MCT8 is frequent in the male population in Galicia," wrote R. ...
    pharmacychoice.com/news/article.cfm?Article_ID=359673
  • Endocrinology Medical News
    Prevalence and functional analysis of the S107P polymorphism (rs6647476) of the monocarboxylate transporter 8 (SLC16A2) gene in the male population of north-west ...
    www.mdlinx.com/endolinx/news-article.cfm/2623101
  • SLC16A2 Gene - GeneCards | MOT8 Protein | MOT8 Antibody
    Complete information for SLC16A2 gene (protein-coding), solute carrier family 16, member 2 (monocarboxylic acid transporter 8)
    www.genecards.org/cgi-bin/previous/carddisp.pl?gene=SLC16A2
  • ZAKI-4(Rcan2) - NextBio
    regulator of calcineurin 2 ... functional analysis of the S107P polymorphism (rs6647476) of the monocarboxylate transporter 8 (SLC16A2) gene in the male ...
    www.nextbio.com/b/search/ov/ZAKI-4
  • Papers by Iglesias M | Labmeeting
    Papers authored by Iglesias M ... functional analysis of the S107P polymorphism (rs6647476) of the monocarboxylate transporter 8 (SLC16A2) gene in the male ...
    www.labmeeting.com/papers/author/iglesias-m

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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