SLC26A2


Solute carrier family 26, member 2

Ensembl gene entry
Ensembl gene location
Omim gene
Genetics Home Reference entry

Diseases associated to this gene:
DTD

Finnish Mutations

Mutation Consequence Amino acid change Reference sequence Articles
c.-26 + 2T > C splice donor site mutation 10482955
c.1535C>A T512K 18708426
c.862C>T R279W 7923357


Foreign Mutations

Mutation Consequence Amino acid change Reference sequence Population Articles
IVS2+1G>C splicing defect several 7923357
c.1045_1047delGTT V340del several 8702127, 8723100
c.1184C>T A386V U14528 Lebanese 11241838
c.1269-1272delAAAC frameshift, truncated protein U14528 German 11241838
c.1388A>C Q454P Lebanese 10466420
c.1421delT frameshift, truncated protein U14528 Belgian 11241838
c.1478G>A G484D U14528 Czech 11241838
c.1501C>T R492W U14528 several 11241838
c.1677delG frameshift, truncated protein U14528 British-Italian 11241838
c.1748C>T T574I U14528 German, Dutch 11241838
c.1751delA frameshift, truncated protein several 7923357
c.1984T>A C653S U14528 several 11241838
c.2003delT frameshift, truncated protein U14528 Unknown 11241838
c.2010delA frameshift, truncated protein Unknown 7923357
c.2147_2148insCT frameshift, truncated protein U14528 French 11241838
c.256A>C N77H U14528 French 11241838
c.282delC frameshift, truncated protein U14528 French 11241838
c.359G>T D111Y U14528 German 11241838
c.430C>A Q135R U14528 French 11241838
c.523G>A G166R U14528 Spanish 11241838
c.558C>T R178X several 8702127, 8723100
c.731-737delGATGGGC frameshift, truncated protein U14528 Hispanic-American 11241838
c.74C>G S16X U14528 Italian 11241838
c.791G>A G225E several 7923357
c.82G>T G19X U14528 British-Australian 11241838
c.933-934delCT frameshift, truncated protein U14528 French 11241838