SLC26A3 C307W - GET-Evidence

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

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Curation:
Currentness:

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SLC26A3 C307W

(SLC26A3 Cys307Trp)


You are viewing an old version of this page that was saved on June 23, 2011 at 12:07am by Genome Importing Robot.

Short summary

 

Variant evidence
Computational -

Variant Effect Predictor (Ensembl ):
SIFT=deleterious(0.01);
PolyPhen=possibly_damaging(0.56);
Condel=deleterious(0.795)
Mutation Tasting Prediction: Polymorphism p value: 0.932994; no protein features affected.
SIFT: Tolerated 0.13
GVGD: GV 204.39; GD 38.50; Class C0
Multi-alignment of P40879.1 chloride anion exchanger [Homo sapiens] with: XP_527858.2 [Pan troglodytes] XP_002818387.1 [Pongo abelii] XP_003268183.1 [Nomascus leucogenys] XP_001090155.2 [Macaca mulatta] XP_002751788.1 [Callithrix jacchus] NP_001123720.1 [Sus scrofa] XP_540380.2 [Canis familiaris] NP_446207.1 [Rattus norvegicus] NP_001077145.1 [Bos taurus] NP_001171828.1 [Ovis aries]

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 @ chr7:107427322: 3.3% (354/10758) in EVS
  • C @ chr7:107214557: 0.8% (1/124) in GET-Evidence
  • Frequency shown in summary reports: 3.3% (354/10758)

Publications
 

Genomes
 

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr7:107214558

 

NA12156

 

Deleted in this revision:

NA12156

 

NA12878

 

Other external references
 

    dbSNP
  • rs34407351
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.924 (probably damaging)
    Web search results (6 hits -- see all)
  • Downregulated in adenoma gene encodes a chloride transporter ...
    Among three mutants, C307W transported both anions as effectively as wild-type, ... for the C307W sequence change all suggest that the C307W sequence change is not ...
    ajpgi.physiology.org/cgi/content/full/276/1/G185
  • Pathogenetics of the Human SLC26 Transporters
    C307W mutation was the same as wild-type SLC26A3 [44]. Furthermore, the mouse homologue ... V317del mutation, leads to a retention of slc26a3 protein in ...
    www.uq.edu.au/~uqdmarko/review9.pdf
  • Anion exchangers DTDST (SLC26A2), DRA (SLC26A3), and pendrin ...
    SLC26A3 (sulfate/chloride antiporter) mDRA. Mus musculus. Downregulated in adenoma. 757. 27 ... whereas the C307W mutation was shown to be. a silent polymorphism ...
    www.uq.edu.au/~uqdmarko/review8.pdf
  • Downregulated in adenoma gene encodes a chloride transporter ...
    Congenital chloride diarrhea (CLD) is a recessively inherited disorder characterized by massive loss of chloride in stool.
    www.medscape.com/medline/abstract/9886994
  • [img]
    la proteina SLC26A3 è un interattore della proteina CFTR, responsabile del ... espressione di SLC26A3 è dipendente da CFTR in molte cellule epiteliali (Greeley ...
    www.fedoa.unina.it/755/1/tesi_di_dottorato_cardillo.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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