These mutants have a C to A transversion that generates a stop codon and produces a truncated protein of 1,880 amino acids out of the normal 3,100, and lacking four of the five CALXbeta motifs. If a truncated protein would be produced, the loss of several conserved regions suggests that nay product would have limited function. (J:101189)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count