The non-coding exon IV plus some promoter sequence was deleted from nucleotides -160 to +281 relative to the transcription initiation start site. Basal synthesis of the gene product was unaffected but translation of the gene in neurons did not increase in response to Ca2+ influx. (J:139381)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count