PMID: 24807163

MC1R, the cAMP pathway, and the response to solar UV: extending the horizon beyond pigmentation.

Pigment cell & melanoma research
JC García-Borrón, Z Abdel-Malek, C Jiménez-Cervantes
2014-09

202 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89985958-A-G MC1R c.292A>G p.Ile98Val Missense 1/1 -
16-89986186-CGTC-C MC1R c.520_522delGTC p.Val174delVal InFrameDeletion 1/1 -
16-89986049-T-C MC1R c.383T>C p.Met128Thr Missense 1/1 -
16-89985931-G-A MC1R c.265G>A p.Gly89Arg Missense 1/1 -
16-89986481-C-T MC1R c.815C>T p.Thr272Met Missense 1/1 -
16-89986481-C-A MC1R c.815C>A p.Thr272Lys Missense 1/1 -
16-89986502-A-G MC1R c.836A>G p.Asn279Ser Missense 1/1 -
16-89986141-C-A MC1R c.475C>A p.Pro159Thr Missense 1/1 -
16-89986334-G-A MC1R c.668G>A p.Arg223Gln Missense 1/1 -
16-89986025-T-C MC1R c.359T>C p.Ile120Thr Missense 1/1 -
16-89986181-G-T MC1R c.515G>T p.Ser172Ile Missense 1/1 -
16-89986249-T-G MC1R c.583T>G p.Phe195Val Missense 1/1 -
16-89986489-T-C MC1R c.823T>C p.Cys275Arg Missense 1/1 -
16-89986177-G-T MC1R c.511G>T p.Ala171Ser Missense 1/1 -
16-89986585-A-G MC1R c.919A>G p.Arg307Gly Missense 1/1 -
16-89985789-T-TT MC1R c.123dupT p.Asp42*fs*1 Nonsense 1/1 -
16-89985885-G-A MC1R c.219G>A p.Met73Ile Missense 1/1 -
16-89985961-C-G MC1R c.295C>G p.Leu99Val Missense 1/1 -
16-89986610-G-C MC1R c.944G>C p.Cys315Ser Missense 1/1 -
16-89986216-G-A MC1R c.550G>A p.Asp184Asn Missense 1/1 -
16-89986216-G-C MC1R c.550G>C p.Asp184His Missense 1/1 -
16-89986453-C-T MC1R c.787C>T p.Leu263Phe Missense 1/1 -
16-89986391-C-T MC1R c.725C>T p.Thr242Ile Missense 1/1 -
16-89986484-G-A MC1R c.818G>A p.Cys273Tyr Missense 1/1 -
16-89985905-T-C MC1R c.239T>C p.Leu80Pro Missense 1/1 -
16-89985965-T-C MC1R c.299T>C p.Leu100Pro Missense 1/1 -
16-89986252-CTTC-C MC1R c.586_588delTTC p.Phe196delPhe InFrameDeletion 1/1 -
16-89985785-T-C MC1R c.119T>C p.Ile40Thr Missense 1/1 -
16-89986535-A-G MC1R c.869A>G p.Asn290Ser Missense 1/1 -
16-89986228-G-A MC1R c.562G>A p.Val188Ile Missense 1/1 -
16-89986526-T-G MC1R c.860T>G p.Ile287Ser Missense 1/1 -
16-89986020-T-G MC1R c.354T>G p.Asn118Lys Missense 1/1 -
16-89986020-T-A MC1R c.354T>A p.Asn118Lys Missense 1/1 -
16-89985796-C-G MC1R c.130C>G p.Leu44Val Missense 1/1 -
16-89985788-C-T MC1R c.122C>T p.Ser41Phe Missense 1/1 -
16-89985783-C-CC MC1R c.117dupC p.Ile40Hisfs*3 Frameshift 1/1 -
16-89986519-GCC-TGG MC1R c.853_855delGCCinsTGG p.Ala285Trp Missense 1/1 -
16-89986133-T-C MC1R c.467T>C p.Val156Ala Missense 1/1 -
16-89985758-C-T MC1R c.92C>T p.Thr31Ile Missense 1/1 -
16-89986565-T-G MC1R c.899T>G p.Phe300Cys Missense 1/1 -
16-89985874-C-T MC1R c.208C>T p.His70Tyr Missense 1/1 -
16-89986319-C-G MC1R c.653C>G p.Ala218Gly Missense 1/1 -
16-89985836-C-T MC1R c.170C>T p.Ala57Val Missense 1/1 -
16-89986243-G-T MC1R c.577G>T p.Val193Leu Missense 1/1 -
16-89986135-AC-GA MC1R c.469_470delACinsGA p.Thr157Asp Missense 1/1 -
16-89985887-A-G MC1R c.221A>G p.Tyr74Cys Missense 1/1 -
16-89985950-C-T MC1R c.284C>T p.Thr95Met Missense 1/1 -
16-89985770-G-A MC1R c.104G>A p.Cys35Tyr Missense 1/1 -
16-89985799-T-C MC1R c.133T>C p.Phe45Leu Missense 1/1 -
16-89985752-A-AA MC1R c.86dupA p.Asn29Lysfs*14 Frameshift 1/1 -
16-89985874-GCAC-G MC1R c.208_210delCAC p.His70delHis InFrameDeletion 1/1 -
16-89986165-G-A MC1R c.499G>A p.Ala167Thr Missense 1/1 -
16-89986508-A-G MC1R c.842A>G p.Asn281Ser Missense 1/1 -
16-89986000-G-A MC1R c.334G>A p.Val112Met Missense 1/1 -
16-89986297-C-G MC1R c.631C>G p.Leu211Val Missense 1/1 -
16-89985835-G-A MC1R c.169G>A p.Ala57Thr Missense 1/1 -
16-89985893-T-A MC1R c.227T>A p.Phe76Tyr Missense 1/1 -
16-89985940-G-T MC1R c.274G>T p.Val92Leu Missense 1/1 -
16-89986558-T-C MC1R c.892T>C p.Tyr298His Missense 1/1 -
16-89985767-G-A MC1R c.101G>A p.Arg34Gln Missense 1/1 -
16-89985944-T-G MC1R c.278T>G p.Leu93Arg Missense 1/1 -
16-89986303-C-T MC1R c.637C>T p.Arg213Trp Missense 1/1 -
16-89985994-G-A MC1R c.328G>A p.Ala110Thr Missense 1/1 -
16-89985709-AAC-CAA MC1R c.43_45delAACinsCAA p.Asn15Gln Missense 1/1 -
16-89985778-G-A MC1R c.112G>A p.Val38Met Missense 1/1 -
16-89985963-TCCT-T MC1R c.297_299delCCT p.Leu101delLeu InFrameDeletion 1/1 -
16-89986352-G-A MC1R c.686G>A p.Arg229His Missense 1/1 -
16-89986186-G-A MC1R c.520G>A p.Val174Ile Missense 1/1 -
16-89986318-G-A MC1R c.652G>A p.Ala218Thr Missense 1/1 -
16-89985861-G-T MC1R c.195G>T p.Lys65Asn Missense 1/1 -
16-89986170-C-G MC1R c.504C>G p.Ile168Met Missense 1/1 -
16-89985773-T-C MC1R c.107T>C p.Leu36Pro Missense 1/1 -
16-89986363-C-T MC1R c.697C>T p.Gln233* Nonsense 1/1 -
16-89986162-G-GG MC1R c.496dupG p.Ala166Glyfs*73 Frameshift 1/1 -
16-89986429-G-C MC1R c.763G>C p.Gly255Arg Missense 1/1 -
16-89986106-TTCT-T MC1R c.440_442delTCT p.Phe147delPhe InFrameDeletion 1/1 -
16-89985809-T-C MC1R c.143T>C p.Leu48Pro Missense 1/1 -
16-89986331-C-A MC1R c.665C>A p.Ala222Asp Missense 1/1 -
16-89986131-C-G MC1R c.465C>G p.Ile155Met Missense 1/1 -
16-89985983-T-A MC1R c.317T>A p.Leu106Gln Missense 1/1 -
16-89986243-G-A MC1R c.577G>A p.Val193Met Missense 1/1 -
16-89986348-C-T MC1R c.682C>T p.Gln228* Nonsense 1/1 -
16-89985958-CATC-C MC1R c.292_294delATC p.Ile98delIle InFrameDeletion 1/1 -
16-89986213-T-G MC1R c.547T>G p.Tyr183Asp Missense 1/1 -
16-89986029-C-G MC1R c.363C>G p.Asp121Glu Missense 1/1 -
16-89986571-G-A MC1R c.905G>A p.Ser302Asn Missense 1/1 -
16-89986090-C-A MC1R c.424C>A p.Arg142Ser Missense 1/1 -
16-89986561-G-A MC1R c.895G>A p.Ala299Thr Missense 1/1 -
16-89986055-C-T MC1R c.389C>T p.Ser130Phe Missense 1/1 -
16-89986555-A-G MC1R c.889A>G p.Ile297Val Missense 1/1 -
16-89986328-T-C MC1R c.662T>C p.Ile221Thr Missense 1/1 -
16-89986522-C-G MC1R c.856C>G p.Leu286Val Missense 1/1 -
16-89986132-G-C MC1R c.466G>C p.Val156Leu Missense 1/1 -
16-89985788-C-G MC1R c.122C>G p.Ser41Cys Missense 1/1 -
16-89985722-C-T MC1R c.56C>T p.Thr19Ile Missense 1/1 -
16-89986503-C-A MC1R c.837C>A p.Asn279Lys Missense 1/1 -
16-89986163-C-G MC1R c.497C>G p.Ala166Gly Missense 1/1 -
16-89986117-C-G MC1R c.451C>G p.Arg151Gly Missense 1/1 -
16-89985962-T-C MC1R c.296T>C p.Leu99Pro Missense 1/1 -
16-89985935-G-C MC1R c.269G>C p.Ser90Thr Missense 1/1 -
16-89986531-T-C MC1R c.865T>C p.Cys289Arg Missense 1/1 -
16-89986333-C-G MC1R c.667C>G p.Arg223Gly Missense 1/1 -
16-89986252-T-C MC1R c.586T>C p.Phe196Leu Missense 1/1 -
16-89986090-C-T MC1R c.424C>T p.Arg142Cys Missense 1/1 -
16-89985865-CCGG-C MC1R c.199_201delCGG p.Arg67delArg InFrameDeletion 1/1 -
16-89985931-G-C MC1R c.265G>C p.Gly89Arg Missense 1/1 -
16-89986217-A-G MC1R c.551A>G p.Asp184Gly Missense 1/1 -
16-89986589-C-T MC1R c.923C>T p.Thr308Met Missense 1/1 -
16-89986009-C-T MC1R c.343C>T p.Gln115* Nonsense 1/1 -
16-89985881-C-T MC1R c.215C>T p.Pro72Leu Missense 1/1 -
16-89986156-GC-CG MC1R c.490_491delGCinsCG p.Ala164Arg Missense 1/1 -
16-89986203-C-CC MC1R c.537dupC p.Ile180Hisfs*59 Frameshift 1/1 -
16-89986279-G-A MC1R c.613G>A p.Val205Met Missense 1/1 -
16-89985821-G-A MC1R c.155G>A p.Ser52Asn Missense 1/1 -
16-89986420-C-T MC1R c.754C>T p.Leu252Phe Missense 1/1 -
16-89985907-G-C MC1R c.241G>C p.Ala81Pro Missense 1/1 -
16-89985772-C-G MC1R c.106C>G p.Leu36Val Missense 1/1 -
16-89986122-C-A MC1R c.456C>A p.Tyr152* Nonsense 1/1 -
16-89985932-G-T MC1R c.266G>T p.Gly89Val Missense 1/1 -
16-89986136-C-T MC1R c.470C>T p.Thr157Ile Missense 1/1 -
16-89985932-G-C MC1R c.266G>C p.Gly89Ala Missense 1/1 -
16-89985701-G-A MC1R c.35G>A p.Gly12Asp Missense 1/1 -
16-89986330-G-A MC1R c.664G>A p.Ala222Thr Missense 1/1 -
16-89986519-G-T MC1R c.853G>T p.Ala285Ser Missense 1/1 -
16-89986519-G-A MC1R c.853G>A p.Ala285Thr Missense 1/1 -
16-89986118-G-A MC1R c.452G>A p.Arg151His Missense 1/1 -
16-89986130-T-C MC1R c.464T>C p.Ile155Thr Missense 1/1 -
16-89986084-G-A MC1R c.418G>A p.Val140Met Missense 1/1 -
16-89986100-C-T MC1R c.434C>T p.Ser145Phe Missense 1/1 -
16-89985766-C-T MC1R c.100C>T p.Arg34Trp Missense 1/1 -
16-89986595-A-G MC1R c.929A>G p.Lys310Arg Missense 1/1 -
16-89985998-C-T MC1R c.332C>T p.Ala111Val Missense 1/1 -
16-89986016-A-T MC1R c.350A>T p.Asp117Val Missense 1/1 -
16-89985866-G-A MC1R c.200G>A p.Arg67Gln Missense 1/1 -
16-89986142-C-T MC1R c.476C>T p.Pro159Leu Missense 1/1 -
16-89986432-C-T MC1R c.766C>T p.Pro256Ser Missense 1/1 -
9-98242847-G-T PTCH1 c.770C>A p.Thr257Lys Missense 6/24 -
16-89986355-C-T MC1R c.689C>T p.Pro230Leu Missense 1/1 -
16-89986333-C-T MC1R c.667C>T p.Arg223Trp Missense 1/1 -
16-89985706-C-T MC1R c.40C>T p.Leu14Phe Missense 1/1 -
16-89986273-A-G MC1R c.607A>G p.Met203Val Missense 1/1 -
16-89986111-G-A MC1R c.445G>A p.Ala149Thr Missense 1/1 -
16-89985897-C-G MC1R c.231C>G p.Ile77Met Missense 1/1 -
16-89986153-C-T MC1R c.487C>T p.Arg163* Nonsense 1/1 -
16-89985751-AAC-CAA MC1R c.85_87delAACinsCAA p.Asn29Gln Missense 1/1 -
16-89985976-G-A MC1R c.310G>A p.Gly104Ser Missense 1/1 -
16-89986566-C-G MC1R c.900C>G p.Phe300Leu Missense 1/1 -
16-89986049-T-A MC1R c.383T>A p.Met128Lys Missense 1/1 -
16-89985733-C-T MC1R c.67C>T p.Gln23* Nonsense 1/1 -
16-89986527-C-G MC1R c.861C>G p.Ile287Met Missense 1/1 -
16-89985818-T-C MC1R c.152T>C p.Val51Ala Missense 1/1 -
16-89985874-GC-G MC1R c.208delC p.His70Thrfs*18 Frameshift 1/1 -
16-89985669-G-A MC1R c.3G>A p.Met1Ile Missense 1/1 -
16-89986030-G-A MC1R c.364G>A p.Val122Met Missense 1/1 -
16-89986609-T-G MC1R c.943T>G p.Cys315Gly Missense 1/1 -
16-89986283-T-C MC1R c.617T>C p.Leu206Pro Missense 1/1 -
16-89986159-G-A MC1R c.493G>A p.Val165Ile Missense 1/1 -
16-89986583-G-A MC1R c.917G>A p.Arg306His Missense 1/1 -
16-89985856-G-A MC1R c.190G>A p.Ala64Thr Missense 1/1 -
16-89986135-A-G MC1R c.469A>G p.Thr157Ala Missense 1/1 -
16-89985754-C-T MC1R c.88C>T p.Gln30* Nonsense 1/1 -
16-89986617-G-T MC1R c.951G>T p.Trp317Cys Missense 1/1 -
16-89986409-G-T MC1R c.743G>T p.Gly248Val Missense 1/1 -
16-89985937-A-G MC1R c.271A>G p.Asn91Asp Missense 1/1 -
16-89985856-G-T MC1R c.190G>T p.Ala64Ser Missense 1/1 -
16-89986472-A-G MC1R c.806A>G p.Glu269Gly Missense 1/1 -
16-89985914-C-T MC1R c.248C>T p.Ser83Leu Missense 1/1 -
16-89986436-T-A MC1R c.770T>A p.Phe257Tyr Missense 1/1 -
16-89986058-G-A MC1R c.392G>A p.Ser131Asn Missense 1/1 -
16-89986259-C-T MC1R c.593C>T p.Ala198Val Missense 1/1 -
16-89986609-T-C MC1R c.943T>C p.Cys315Arg Missense 1/1 -
16-89986148-C-T MC1R c.482C>T p.Ala161Val Missense 1/1 -
16-89986178-C-G MC1R c.512C>G p.Ala171Gly Missense 1/1 -
16-89986480-A-G MC1R c.814A>G p.Thr272Ala Missense 1/1 -
16-89986277-C-G MC1R c.611C>G p.Ala204Gly Missense 1/1 -
16-89986178-C-A MC1R c.512C>A p.Ala171Asp Missense 1/1 -
16-89986039-T-C MC1R c.373T>C p.Cys125Arg Missense 1/1 -
16-89986562-C-T MC1R c.896C>T p.Ala299Val Missense 1/1 -
16-89985991-C-T MC1R c.325C>T p.Arg109Trp Missense 1/1 -
16-89986459-G-A MC1R c.793G>A p.Val265Ile Missense 1/1 -
16-89986145-G-A MC1R c.479G>A p.Arg160Gln Missense 1/1 -
16-89985867-GG-G MC1R c.201delG p.Asn68Thrfs*20 Frameshift 1/1 -
16-89986541-T-C MC1R c.875T>C p.Ile292Thr Missense 1/1 -
16-89985955-G-A MC1R c.289G>A p.Val97Ile Missense 1/1 -
16-89985806-G-C MC1R c.140G>C p.Ser47Thr Missense 1/1 -
16-89985806-G-T MC1R c.140G>T p.Ser47Ile Missense 1/1 -
16-89986151-G-C MC1R c.485G>C p.Arg162Pro Missense 1/1 -
16-89985883-A-G MC1R c.217A>G p.Met73Val Missense 1/1 -
16-89985913-T-C MC1R c.247T>C p.Ser83Pro Missense 1/1 -
16-89985865-C-T MC1R c.199C>T p.Arg67Trp Missense 1/1 -
16-89986420-CCTC-C MC1R c.754_756delCTC p.Leu252delLeu InFrameDeletion 1/1 -
16-89985845-T-G MC1R c.179T>G p.Val60Gly Missense 1/1 -
16-89985793-G-A MC1R c.127G>A p.Gly43Arg Missense 1/1 -
16-89985961-C-A MC1R c.295C>A p.Leu99Ile Missense 1/1 -
16-89985974-C-T MC1R c.308C>T p.Ala103Val Missense 1/1 -
16-89986222-G-A MC1R c.556G>A p.Val186Met Missense 1/1 -
16-89986486-G-A MC1R c.820G>A p.Gly274Ser Missense 1/1 -
16-89985718-C-G MC1R c.52C>G p.Pro18Ala Missense 1/1 -
16-89986498-A-G MC1R c.832A>G p.Lys278Glu Missense 1/1 -
16-89986156-G-C MC1R c.490G>C p.Ala164Pro Missense 1/1 -
16-89986445-A-T MC1R c.779A>T p.His260Leu Missense 1/1 -
16-89986445-A-C MC1R c.779A>C p.His260Pro Missense 1/1 -