Table 1.

Mutations of the hptc gene in BCCs from patients with XP

Patient	Localization	Exon	Mutation	Mutated codon	Effect on coding	DNA strand
A.M. (1)	nose	3	CC537TT	183–184	Leu–Gln → Leu–stop	NT
		6	CC867TT	293–294	Asp–Arg → Asp–Cys	NT
K.L.	cheek	6	CC867TT	293–294	Asp–Arg → Asp–Cys	NT
M.C.	forehead	8	cAg1070cCg	361	Gln → Pro	T
Mo.H. (1)	nose	11	tTc1536tAc	516	Phe → Leu	NT
Am.S.	cheek	13	CC1974TT	662–663	Val–Gln → Val–stop	NT
		13	cCa2093cTa	702	Pro → Leu	NT
M.J.	cheek	13	Ccc1996Tcc	670	Pro → Ser	NT
M.H.	ND	13	2122del11	—	frameshift	—
R.R.	forearm	14	CC2295TT	769–770	Thr–Arg → Thr–stop	NT
H.B.	eyelid	14	CC2295TT	769–770	Thr–Arg → Thr–stop	NT
		19	CC3362TT	1125	Pro → Leu	NT
Am.T.	cheek	14	CC2295TT	769–770	Thr–Arg → Thr–stop	NT
Re.K.	cheek	16	CC2735AT	916	Pro → His	NT
A.H.	cheek	16	GG2766AA	926–927	Trp–Val → stop	T
Mo.H. (2)	cheek	18	3237del G	—	frameshift	—
Ko.H.	ND	19	CC3308TT	1107	Arg → Val	NT
S.T.	ND	21	cCc3593cTc	1202	Pro → Leu	NT
A.M. (2)	nose	22	CC3803TT	1272	Pro → Leu	NT

The patients from whom BCCs were taken are indicated by their initials. Numbers in brackets for patients A.M. and Mo.H. indicate different BBCs from these patients. The mutations are indicated in capitals on the coding strand, written 5′ to 3′, as described by Hahn et al. (4). Amino acids are numbered as described by Johnson et al. (5). The column entitled DNA strand gives the location of a Py–Py lesion on the transcribed strand (T) or the nontranscribed strand (NT) of the hptc gene. ND, not determined. All patients with XP, except M.H. and M.J., are from North Africa and, thus, probably belong to the complementation group C. M.J. is an XP variant.