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)

Short summary


Variant evidence
Computational -

Variant Effect Predictor (Ensembl ):
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 -


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)



hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het C @ chr7:107427322



hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr7:107427322


huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het C @ chr7:107427322


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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