The mutation was identified as a single bp insertion of a guanine within a stretch of six guanines at nucleotide position 675-80. The insertion causes a frame shift mutation that results in a truncated protein at amino acid position 245. The resultant protein lacks the C-terminal SAM domain. (J:82022)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count