The mutation was identified as a 7 bp insertion at nucleotide position 896. The insertion causes a frameshift mutation that results in a truncated protein at amino acid position 350. 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