PMID: 25794181

Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene.

PloS one
D Hepp, GL Gonçalves, TR de Freitas
2015

90 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89986527-C-G MC1R c.861C>G p.Ile287Met Missense 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 -
16-89986283-T-C MC1R c.617T>C p.Leu206Pro Missense 1/1 -
16-89986583-G-A MC1R c.917G>A p.Arg306His Missense 1/1 -
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
16-89986436-T-A MC1R c.770T>A p.Phe257Tyr Missense 1/1 -
16-89985856-G-A MC1R c.190G>A p.Ala64Thr Missense 1/1 -
20-10279933-GA-AT SNAP25 c.425_426delGAinsAT p.Arg142His Missense 7/8 -
16-89986178-C-G MC1R c.512C>G p.Ala171Gly Missense 1/1 -
16-89986541-T-C MC1R c.875T>C p.Ile292Thr 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 -
16-89986058-G-A MC1R c.392G>A p.Ser131Asn Missense 1/1 -
16-89986472-A-G MC1R c.806A>G p.Glu269Gly Missense 1/1 -
16-89985806-G-T MC1R c.140G>T p.Ser47Ile Missense 1/1 -
16-89985931-G-A MC1R c.265G>A p.Gly89Arg Missense 1/1 -
16-89985865-C-T MC1R c.199C>T p.Arg67Trp Missense 1/1 -
16-89985958-A-G MC1R c.292A>G p.Ile98Val Missense 1/1 -
16-89986498-A-G MC1R c.832A>G p.Lys278Glu Missense 1/1 -
16-89985801-C-G MC1R c.135C>G p.Phe45Leu Missense 1/1 -
16-89986049-T-C MC1R c.383T>C p.Met128Thr Missense 1/1 -
16-89986141-C-A MC1R c.475C>A p.Pro159Thr Missense 1/1 -
16-89986481-C-T MC1R c.815C>T p.Thr272Met Missense 1/1 -
16-89986025-T-C MC1R c.359T>C p.Ile120Thr Missense 1/1 -
16-89986610-G-C MC1R c.944G>C p.Cys315Ser 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 -
16-89986177-G-T MC1R c.511G>T p.Ala171Ser Missense 1/1 -
16-89986502-A-G MC1R c.836A>G p.Asn279Ser 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 -
16-89986133-T-C MC1R c.467T>C p.Val156Ala Missense 1/1 -
16-89986535-A-G MC1R c.869A>G p.Asn290Ser Missense 1/1 -
16-89986508-A-G MC1R c.842A>G p.Asn281Ser Missense 1/1 -
16-89986565-T-G MC1R c.899T>G p.Phe300Cys Missense 1/1 -
16-89985836-C-T MC1R c.170C>T p.Ala57Val Missense 1/1 -
16-89985874-C-T MC1R c.208C>T p.His70Tyr Missense 1/1 -
16-89985950-C-T MC1R c.284C>T p.Thr95Met Missense 1/1 -
16-89985799-T-C MC1R c.133T>C p.Phe45Leu Missense 1/1 -
16-89986297-C-G MC1R c.631C>G p.Leu211Val Missense 1/1 -
16-89986303-C-T MC1R c.637C>T p.Arg213Trp Missense 1/1 -
16-89985835-G-A MC1R c.169G>A p.Ala57Thr Missense 1/1 -
16-89985767-G-A MC1R c.101G>A p.Arg34Gln Missense 1/1 -
16-89986352-G-A MC1R c.686G>A p.Arg229His Missense 1/1 -
16-89985778-G-A MC1R c.112G>A p.Val38Met Missense 1/1 -
16-89986429-G-C MC1R c.763G>C p.Gly255Arg Missense 1/1 -
16-89986318-G-A MC1R c.652G>A p.Ala218Thr Missense 1/1 -
16-89986331-C-A MC1R c.665C>A p.Ala222Asp Missense 1/1 -
20-10277679-AG-TT SNAP25 c.388_389delAGinsTT p.Ser130Phe Missense 6/8 -
16-89986555-A-G MC1R c.889A>G p.Ile297Val Missense 1/1 -
16-89986213-T-G MC1R c.547T>G p.Tyr183Asp Missense 1/1 -
16-89985809-T-C MC1R c.143T>C p.Leu48Pro Missense 1/1 -
16-89986029-C-G MC1R c.363C>G p.Asp121Glu Missense 1/1 -
16-89986561-G-A MC1R c.895G>A p.Ala299Thr Missense 1/1 -
16-89986117-C-G MC1R c.451C>G p.Arg151Gly Missense 1/1 -
16-89986055-C-T MC1R c.389C>T p.Ser130Phe Missense 1/1 -
16-89986132-G-C MC1R c.466G>C p.Val156Leu Missense 1/1 -
16-89986163-C-G MC1R c.497C>G p.Ala166Gly Missense 1/1 -
16-89986328-T-C MC1R c.662T>C p.Ile221Thr Missense 1/1 -
16-89986503-C-A MC1R c.837C>A p.Asn279Lys Missense 1/1 -
16-89985722-C-T MC1R c.56C>T p.Thr19Ile Missense 1/1 -
16-89986333-C-G MC1R c.667C>G p.Arg223Gly Missense 1/1 -
16-89985788-C-G MC1R c.122C>G p.Ser41Cys Missense 1/1 -
16-89985962-T-C MC1R c.296T>C p.Leu99Pro Missense 1/1 -
16-89986531-T-C MC1R c.865T>C p.Cys289Arg Missense 1/1 -
16-89985931-G-C MC1R c.265G>C p.Gly89Arg Missense 1/1 -
16-89986252-T-C MC1R c.586T>C p.Phe196Leu Missense 1/1 -
16-89986589-C-T MC1R c.923C>T p.Thr308Met Missense 1/1 -
16-89986136-C-T MC1R c.470C>T p.Thr157Ile Missense 1/1 -
16-89985881-C-T MC1R c.215C>T p.Pro72Leu Missense 1/1 -
16-89986420-C-T MC1R c.754C>T p.Leu252Phe Missense 1/1 -
16-89986330-G-A MC1R c.664G>A p.Ala222Thr Missense 1/1 -
16-89985766-C-T MC1R c.100C>T p.Arg34Trp Missense 1/1 -
16-89985701-G-A MC1R c.35G>A p.Gly12Asp 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 -
16-89985998-C-T MC1R c.332C>T p.Ala111Val Missense 1/1 -
16-89986432-C-T MC1R c.766C>T p.Pro256Ser Missense 1/1 -
16-89985866-G-A MC1R c.200G>A p.Arg67Gln Missense 1/1 -
16-89986016-A-T MC1R c.350A>T p.Asp117Val Missense 1/1 -
16-89986355-C-T MC1R c.689C>T p.Pro230Leu 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 -
16-89985897-C-G MC1R c.231C>G p.Ile77Met Missense 1/1 -
16-89986111-G-A MC1R c.445G>A p.Ala149Thr Missense 1/1 -
16-89985976-G-A MC1R c.310G>A p.Gly104Ser Missense 1/1 -
4-55569983-G-C KIT c.850G>C p.Asp284His Missense 5/21 -