Table 3

Mutations in UNC93A in tumours





ALLELE LOSS










TUMOUR
 AGE
 STAGE
 HISTOLOGY
 DIFF.
 149
 297
 193
 264
 EXON
 MUTATION
 NORMAL
32
 62
 III
 endometrioid
 poorly
 NI
 NI
 NI
 NI
 3
 c.452G>A, W151X*
 Identical to the tumour
68
 54
 II
 mucious
 well
 -
 NI
 -
 -
 3
 c.452G>A, W151X *
 Identical to the tumour
60
 75
 III
 undifferentiated
 poorly
 NI
 +
 +
 -
 3
 c.452G>A, W151X *
 Identical to the tumour
50
 47
 I
 serious
 moderately
 NI
 -
 -
 -
 3
 c.452G>A, W151X *
 Identical to the tumour
30
 52
 I
 clear cell
 moderately
 -
 NI
 NI
 +
 3
 c.452G>A, W151X *
 Normal
28
 49
 III
 clear cell
 moderately
 -
 -
 NI
 -
 4
 c.625+1G>C *
 Identical to the tumour
39
 53
 II
 endometrioid
 poorly
 -
 +
 +
 -
 4
 c.625+1G>C *
 Identical to the tumour
43
 72
 III
 serious
 moderately
 -
 -
 +
 -
 5
 c.676C>T, R226X
 Normal

$, indicates the first base downstream of the splice donor site of exon 4. Diff.= differentiation; NI, not informative or unable to amplify; -, both alleles retained; +, LOH (loss of heterozygosity). Data as previously published [16]. All mutations are homozygous except when indicated by *. Normal refers to matched DNA from peripheral blood. The location of each mutation in the cDNA sequence is based on numbering from the inititiator codon ATG.

Liu et al. BMC Genetics 2002 3:20   doi:10.1186/1471-2156-3-20