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Table 3 Mutations in UNC93A in tumours

From: The human homologue of unc-93 maps to chromosome 6q27 – characterisation and analysis in sporadic epithelial ovarian cancer

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
  1. $, 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.