Table 2 Known p53 mutations in ocular sebaceous carcinoma
Age/Sex | Site | Mutation | |||
|---|---|---|---|---|---|
| Â | Â | 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 |