Capillary sequencing confirmed a T to A transversion at 57542264 bp on Chromosome 17 (v37) in the GenBank genomic region NC_000083 encoding Emr1. The mutation corresponds to cDNA residue 497 in exon 5 of 23 total exons in transcript ENSMUST00000004850 (NM_010130.4 corresponds to this Ensembl transcript) and residue 497 in exon 5 of 22 total exons in transcript ENSMUST00000086763. The mutation results in a leucine (L) to premature stop codon substitution at residue 166, and may cause nonsense mediated decay of the transcript. (J:195410)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count