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

TA

    Ct
to TA
    Gt

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

    GG
A to
    AG
A

G199R

G:C→A:T


85 yrs/M [15]

LL

Exon 7

    GG
C to
    AG
C

G245S

G:C→A:T


42 yrs/M [53]

NP

Exon 7

    cC
GG to
    cT
GG

R248Y

C:G→T:A


76 yrs/F [15]

LL

Exon 7

    cC
GG to
    cT
GG

R248W

C:G→T:A


61 yrs/M [15]

LL

Exon 8

    gG
TG to
    gA
TG

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

T

    Gg
t to T
    Gt
t

NA

G:C→T:A


68 yrs/M [15]

LL

Int 1

a

    gG
T to a
    aG
T

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

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