BioMed Research International / 2014 / Article / Tab 1 / Research Article
A Large French Case-Control Study Emphasizes the Role of Rare Mc1R Variants in Melanoma Risk Table 1 All variants found in the study.
Nucleotide change
Amino acid change Number of chromosome Predicted to be damaging (D ) varianta
Rare variantb
Novel variantc
Reference Patients (chr = 2262) Controls (chr = 1738) Nonsynonymous c.100C > T p.R34W 1 No Yes Yes c.104G > A p.C35Y 1 Yes Yes No
[35 ]
c.112G > A p.V38M 2 3 No Yes No
[35 ]
c.122C > G p.S41C 2 Yes Yes Yes c.133T > C (rs61996344) p.F45L 2 Yes Yes No
[36 ]
c.178G > T (rs1805005) p.V60L 359 254 Yes No No
[25 ] c.199C > T p.R67W 2 Yes Yes No
[37 ]
c.200G > A (rs34090186) p.R67Q 1 1 No Yes No
[38 ]
c.205C > G p.L69V 1 Yes Yes Yes c.241G > C p.A81P 1 Yes Yes No [24 ] c.247T > C (rs34474212) p.S83P 5 1 Yes Yes No
[39 ]
c.252C > A (rs1805006) p.D84E 23 13 RHC No No [27 ] c.274G > A p.V92M 188 113 Yes No No [27 ] c.284C > T (rs34158934) p.T95M 6 2 Yes Yes No [27 ] c.296T > C p.L99P 1 Yes Yes Yes c.310G > A (rs2229617) p.G104S 1 Yes Yes No [24 ] c.350A > T p.D117V 1 Yes Yes Yes c.359T > C (rs33932559) p.I120T 1 Yes Yes No
[35 ]
c.364G > A p.V122M 1 4 No Yes No
[40 ]
c.373T > C p.C125R 1 Yes Yes No
[41 ]
c.389C > T p.S130F 1 Yes Yes Yes c.415G > A p.A139T 1 Yes Yes No [31 ] c.417G > A p.V140M 1 No Yes Yes c.419T > G p.V140G 1 Yes Yes Yes c.424C > T p.R142C 1 Yes Yes No [42 ] c.425G > A (rs11547464) p.R142H 29 13 RHC No No [25 ] c.451C > T (rs1805007) p.R151C 211 76 RHC No No [25 ] c.456C > A p.Y152X 1 Yes Yes No
[43 ]
c.464T > C (rs1110400) p.I155T 35 14 Yes No No [25 ] c.467T > C p.V156A 1 Yes Yes No [31 ] c.478C > T (rs1805008) p.R160W 152 59 RHC No No [25 ] c.479G > A p.R160Q 2 Yes Yes No
[36 ]
c.488G > A (rs885479) p.R163Q 75 57 Yes No No [25 ] c.512C > A p.A171D 1 Yes Yes No
[43 ]
c.613G > C p.V205L 1 Yes Yes Yes c.637C > T (rs144239448) p.R213W 3 4 Yes Yes No
[36 ]
c.652G > A p.A218T 1 Yes Yes No [29 ] c.664G > T p.A222S 1 No Yes Yes c.667C > T p.R223W 1 Yes Yes Yes c.707G < A p.G236D 1 Yes Yes Yes c.766C > T p.P256S 1 1 Yes Yes No
[43 ]
c.801C > A p.C267X 1 Yes Yes Yes c.820G > A p.G274S 1 No Yes No
[44 ]
c.832A > G p.K278E 3 1 Yes Yes No [24 ] c.842A > G (rs141177570) p.N281S 1 Yes Yes No
[45 ]
c.853G > A p.A285T 1 No Yes Yes c.854C > G p.A285G 1 Yes Yes Yes c.861C > G p.I287M 2 Yes Yes No
[46 ]
c.865T > C p.C289R 1 Yes Yes No [47 ] c.880G > C (rs1805009) p.D294H 85 35 RHC No No [27 ] c.892T > C p.Y298H 1 Yes Yes No [42 ] c.895G > A p.A299T 1 Yes Yes No [25 ] c.917G > A p.R306H 1 Yes Yes No
[45 ]
c.928A > C p.K310Q 1 No Yes Yes c.951G > T p.W317C 1 Yes Yes Yes Insertion/deletion c.86_87 insA 4 Yes Yes No
[46 ]
c.481_482 insG 1 Yes Yes Yes c.524_525 insT 1 Yes Yes Yes Synonymous c.366G > A p.V122V 1 No Yes No [29 ] c.414C > T p.I138I 1 No Yes No
[38 ]
c.426C > A p.R142R 2 No Yes Yes c.471C > T p.T157T 1 No Yes Yes c.477G > C p.P159P 1 No Yes Yes c.478C > A p.R160R 1 No Yes No
[48 ]
c.483G > A p.A161A 1 No Yes No [29 ] c.504C > T (rs34612847) p.I168I 1 No Yes No
[38 ]
c.531G > A (rs145781072) p.T177T 1 1 No Yes No c.537C > T p.F179F 1 No Yes Yes c.621C > T p.Y207Y 1 No Yes No [31 ] c.690G > C p.P230P 3 No Yes No [24 ] c.699G > A (rs146544450) p.Q233Q 6 10 No Yes No
[46 ]
c.792C > T p.I264I 4 No Yes No
[49 ]
c.828C > T p.I276I 1 No Yes No [31 ] c.873C > T p.A291A 1 No Yes Yes c.894C > T (rs143395134) p.Y298Y 2 No Yes No c.900C > T (rs3212367) p.F300F 1 4 No Yes No
[38 ]
c.927C < G p.L309L 1 No Yes Yes c.942A > G (rs2228478) p.T314T 249 170 No No No [25 ] c.948C > T (rs151318945) p.S316S 5 5 No Yes No dbSNP
Damaging variants were those predicted as deleterious or intolerated by SIFT, SNPs3D, and PolyPhen in silico prediction tools.
b Rare variants were defined as allele frequency less than 1%.
c Variants were absent in dbSNP by using NM_002386.3 as contig transcript and works of Gerstenblith et al. [22 ] and García-Borrón et al. [23 ].
