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Table 4 Mutations in exon 8 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

TUMOR

AGE

STAGE

HISTOLOGY

DIFF

149

297

193

264

MUTATION

NORMAL

19

59

III

Serous

poorly

NI

NI

+

MI

c.1159T>C, Y387H*

c.1159T>C, Y387H*

         

c.1208T>C, M403T

c.1208T>C, M403T

         

c.1225G>A, V409I*

 
         

c.1334T>C+1335C>G, V445A*

c.1334T>C+1335C>G, V445A*

34

74

III

Serous

moderately

+

+

NI

NI

c.1159T>C, Y387H *

Identical to the tumour

         

c.1208T>C, M403T

 
         

c.1334T>C+1335C>G, V445A*

 

44

58

III

Serous

poorly

NI

NI

-

-

c.1159T>C, Y387H *

Identical to the tumour

         

c.1208T>C, M403T

 
         

c.1225G>A, V409I *

 
         

c.1334T>C+1335C>G, V445A*

 

49

44

Ic

Serous

moderately

-

NI

-

-

c.1159T>C, Y387H *

Identical to the tumour

         

c.1208T>C, M403T

 
         

c.1208T>C+1209G>A*, M403T,

 
         

c.1334T>C+1335C>G, V445A*

 

54

28

Ia

Mucinous

well

NI

NI

NI

-

c.1159T>C, Y387H *

Identical to the tumour

         

c.1208T>C, M403T

 
         

c.1334T>C+1335C>G, V445A*

 
  1. NI, not informative or unable to amplify; -, both alleles retained; +, LOH (loss of heterozygosity); MI, microsatellite instability. 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.