SLC26A3 C307W - GET-Evidence

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

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SLC26A3 C307W

(SLC26A3 Cys307Trp)

You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

Short summary


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


Insufficiently evaluated not reviewed

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

Inheritance pattern


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)




Added in this revision:

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






Other external references

  • rs34407351
  • 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 ...
  • 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 ...
  • 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 ...
  • 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.
  • [img]
    la proteina SLC26A3 è un interattore della proteina CFTR, responsabile del ... espressione di SLC26A3 è dipendente da CFTR in molte cellule epiteliali (Greeley ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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