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Table 2 Known p53 mutations in ocular sebaceous carcinoma

From: Early onset 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 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 TGg t to TGt t NA G:C→T:A
68 yrs/M [15] LL Int 1 agG T to aaG T NA G:C→A:T
  1. ul, Upper eyelid; LL, Lower eyelid; NA, Nonapplicable; NP, Not provided;
  2. Underline, dipyrimidine; * present case