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 22, 2011 at 8:19am by Han Luu.

Edited in this revision:

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	-

Insufficiently evaluated not reviewed

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

unknown

Allele frequency

dbSNP

GeneTests

GeneTests records for the SLC26A3 gene
Familial Chloride Diarrhea
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC26A3

PolyPhen-2

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
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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

Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B05 from PGP sample 83494370 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F02 from PGP sample 70008981 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_C02 from PGP sample 10366372 view
Jun 23 2011 Genome Importing Robot removed [NA12156] view
Jun 22 2011 Han Luu edited variant summary view
Mar 29 2011 Genome Importing Robot added var-GS20502-1100-36-ASM view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Sr. view
Dec 6 2010 Genome Importing Robot added hu728FFF build 36 substitution variants view
Feb 26 2010 Genome Importing Robot added [NA12156] view
Feb 17 2010 Genome Importing Robot added Henry Louis Gates Sr. view
Dec 27 2009 Genome Importing Robot added [NA12878] view
Dec 27 2009 Genome Importing Robot added variant view