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The new mutation reported here should be added to the long list of pathogenic variations described in the PYGM gene.
Because the constellation of airflow obstruction and elevated serum ACE in African American individuals is one that should raise the possibility of sarcoidosis to pulmonologists, it is important to recognize that mutations of the ACE gene that are not associated with disease – including the novel W1197X mutation reported here – can also lead to substantial blood ACE elevation.
The T193I mutation reported here, may affect the three dimensional structure of the protein.
The functional consequences of the R878C Nav1.5 mutation reported here were then investigated by biophysical and modelling studies.
The mutation reported here results in an amino acid change within α-helix 2 (H2) of the PrP protein, which comprises amino acids 173 194 [ 20].
Among these are two that occur in the initiator codon (c.1A>C and c.1A>G), similar to the canine L2HGDH c.1A>G mutation reported here.
Similar(46)
The TAS sequences vary among chromosome arms and between individuals within a population [48] and thus it is possible the effects of the mutations reported here are restricted to 2L, but we think this is unlikely.
The other six mutations reported here are novel.
Of the 4 points mutations reported here, 3 were transversions and 1 was a missense mutation.
Seizure suppression by gish loss-of-function mutations reported here is unusual in several respects.
Therefore, all mutations reported here may soon be proven to be useful for diagnostic testing.
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