This mutation, identified in an ENU mutagenesis screen, comprises an A to G transition in exon 19 that results in replacement of glutamic acid by glycine at amino acid 1196, in the tyrosine kinase domain of the receptor (E1196G).
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count