ENU-induced T to G transversion at base pair 23,753,215 (v38) on chromosome 11, or base pair 17,756 in the GenBank genomic region NC_000077 within the splice donor site of intron 4. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in the use of cryptic splice site in exon 4 (out of 10 total exons) and the subsequent deletion of 71 base pair in exon 4. As a result of the deletion, there would be an in-frame deletion of 24 amino acids beginning after amino acid 108 of the encoded protein, and termination after the inclusion of two aberrant amino acids. (J:236682)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count