CLCN6

No. of putative disease causing mutations: 2
No. of polymorphisms: 3

Identifier Nucleotide change Mutation Amino acid change/ 

Predicted consequence

Location Restriction site change Phenotype No of families with mutation Country/ies of origin Reference
clcn6.003 c.231G/A Polymorphism No amino acid change       3/100   Poët et al. 2006 Proc Natl Acad Sci 103:13854-59
clcn6.004 c.593G/A Polymorphism p.198Gly/Glu       5/100   Poët et al. 2006 Proc Natl Acad Sci 103:13854-59
clcn6.001 c.1738G>A Missense p.Val580Met

exon 17

helix R

  teenage onset 1 Poland Poët et al. 2006 Proc Natl Acad Sci 103:13854-59
clcn6.002 c.1883C>G Missense p.Thr628Arg

exon 18

CBS domain

  adult onset 1 USA Poët et al. 2006 Proc Natl Acad Sci 103:13854-59
clcn6.005 c.1911A/G Polymorphism No amino acid change       2/100   Poët et al. 2006 Proc Natl Acad Sci 103:13854-59

 

Both these mutations were on one chromosome of the respective patients. A second mutation in the same gene was not found.

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