Table 2

Known p53 mutations in ocular sebaceous carcinoma

Age/Sex

Site

Mutation

Location

Codon

Amino acid

Type

83 yrs/F [15]

LL

Exon 5

TACt to TAGt

Y126stop

C:G→G:C

75 yrs/M [15]

ul

Exon 5

GTG to ATG

V173M

G:C→A:T

36 yrs/F [15]

LL

Exon 5

CGC to CAC

R175H

G: C→A:T

78 yrs/M [15]

ul

Exon 6

CAT to CGT, AGT to GGT

H193R, S215G

A:T→G:C A:T→G:C

32 yrs/F*

ul

Exon 6

GGA to AGA

G199R

G:C→A:T

85 yrs/M [15]

LL

Exon 7

GGC to AGC

G245S

G:C→A:T

42 yrs/M [53]

NP

Exon 7

cCGG to cTGG

R248Y

C:G→T:A

76 yrs/F [15]

LL

Exon 7

cCGG to cTGG

R248W

C:G→T:A

61 yrs/M [15]

LL

Exon 8

gGTG to gATG

V272M

G:C→A:T

61 yrs/F [15]

ul

Exon 8

TGT to TAT

C275Y

G:C→A:T

75 yrs/F [3]

LL

Exon 8

TGT to TTT

C277F

G:C→T:A

47 yrs/F [15]

ul

Int 1

TGgt to TGtt

NA

G:C→T:A

68 yrs/M [15]

LL

Int 1

agGT to aaGT

NA

G:C→A:T

ul, Upper eyelid; LL, Lower eyelid; NA, Nonapplicable; NP, Not provided;

Underline, dipyrimidine; * present case

Sung et al. Diagnostic Pathology 2011 6:81   doi:10.1186/1746-1596-6-81