A Large French Case-Control Study Emphasizes the Role of Rare Mc1R Variants in Melanoma Risk

Table 4

Localisation of MC1R variants according to their classification and to their demonstrated or predicted functional impact.

	Protein region	RHC variant (R)	Non-RHC variant (r)
			Frequent non-RHC (r)	Rare r
				Predicted to be damaging (D)^a	Predicted to be nondamaging (nD)^a
N-terminus	M1-E37			1	1
Transmembrane 1	V38-I63		x	4	5
Intracellular 1	A64-P72			3	2
Transmembrane 2	M73-L100	x	x	16	2
Extracellular 1	L101-Q115			0	1
Transmembrane 3	L116-Y143	x		7	6
Intracellular 2	I144-R162	x	x	4	0
Transmembrane 4	R163-Y183		x	1	0
Extracellular 2	D184-L192			0	0
Transmembrane 5	V193-A218			9	0
Intracellular 3	Q219-G236			2	1
Transmembrane 6	L237-V265			2	0
Extracellular 3	L266-I276			1	1
Transmembrane 7	F277-A299	x		11	2
C-terminus	F300-W317			2	1

aNumber of alleles found in each protein domain.
The crosses indicate localisation of RHC variants or frequent non-RHC variants.