sufficient to prove causality of the mutations [ESP]. Confusingly, a p. Gly1094Profs*5 mutation, inherited from an unaffected parent, was reported in this same large scale targeted resequencing study. While this finding seemed to argue against causality at first sight, this mutation is located close to the C-terminus of the encoded protein, beyond the last known functional domain. Typically variations that close to the end of a protein are unlikely to affect protein function.
