Table 1 |. Pathogenic mutations in melanocytes from normal human skin.
Pathway | Hugo Symbol | Protein Change | Donor | Site |
---|---|---|---|---|
MAPK | BRAF | p.G466R | Donor6 | Back (adjacent to a BCC) |
BRAF | p.G466R | Donor6 | Back (adjacent to a Mel) | |
BRAF | p.D594G | Donor6 | Back (adjacent to a Mel) | |
BRAF | p.D594G | Donor6 | Back (adjacent to a Mel) | |
BRAF | p.D594G | Donor13 | Back (adjacent to a Mel) | |
BRAF | p.D594G | Donor13 | Back (adjacent to a Mel) | |
BRAF | p.D594G | Donor13 | Back (adjacent to a Mel) | |
CBL | p.H398L | Donor4 | Shin | |
CBL | p.H398L | Donor4 | Shin | |
MAP2K1 | p.E203K | Donor4 | Shoulder | |
MAP2K1 | p.E203K | Donor10 | Thigh | |
NF1 | p.W1314* | Donor6 | Back (adjacent to a BCC) | |
NF1 | p.P1847L | Donor13 | Back (adjacent to a Mel) | |
NF1 | p.Q2239* | Donor13 | Back (adjacent to a Mel) | |
NF1 | p.R1276* | Donor6 | Back (adjacent to a Mel) | |
NF1 | p.V2511fs | Donor10 | Back | |
RASA2 | p.L83I | Donor6 | Back (adjacent to a BCC) | |
RASA2 | p.P376S | Donor13 | Back (adjacent to a Mel) | |
RASA2 | p.P376S | Donor13 | Back (adjacent to a Mel) | |
NRAS | p.Q61L | Donor13 | Back (adjacent to a Mel) | |
Cell Cycle | CDKN2A | p.V43M | Donor6 | Back (adjacent to a BCC) |
PPP6C | p.R264C | Donor10 | Back | |
Epigenetic | ARID2 | p.E1670K | Donor7 | Cheek |
ARID2 | p.Q1591* | Donor4 | Buttock | |
ARID2 | p.A18V | Donor6 | Back (adjacent to a Mel) | |
ARID2 | p.L202S | Donor6 | Back (adjacent to a Mel) | |
ARID2 | p.P1392L | Donor13 | Ear | |
PI3K | PTEN | p.QYPFEDH87fs | Donor13 | Ear |
RNA Processing | DDX3X | p.P167L | Donor13 | Back (adjacent to a Mel) |