PMID: 26677074

Rare variants in MC1R/TUBB3 exon 1 are not associated with Parkinson's disease.

Annals of neurology
O Lorenzo-Betancor, ZK Wszolek, OA Ross
2016-02

63 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89986030-G-A MC1R c.364G>A p.Val122Met Missense 1/1 -
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
16-89986566-C-T MC1R c.900C>T p.Phe300Phe Synonymous 1/1 -
16-89985754-C-T MC1R c.88C>T p.Gln30* Nonsense 1/1 -
16-89986065-C-T MC1R c.399C>T p.Cys133Cys Synonymous 1/1 -
16-89986058-G-A MC1R c.392G>A p.Ser131Asn Missense 1/1 -
16-89986178-C-A MC1R c.512C>A p.Ala171Asp 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 -
16-89986065-C-G MC1R c.399C>G p.Cys133Trp Missense 1/1 -
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -
16-89985844-G-T MC1R c.178G>T p.Val60Leu Missense 1/1 -
16-89986164-G-A MC1R c.498G>A p.Ala166Ala Synonymous 1/1 -
16-89986164-G-C MC1R c.498G>C p.Ala166Ala Synonymous 1/1 -
16-89985940-G-C MC1R c.274G>C p.Val92Leu Missense 1/1 -
16-89985837-G-T MC1R c.171G>T p.Ala57Ala Synonymous 1/1 -
16-89985806-G-T MC1R c.140G>T p.Ser47Ile Missense 1/1 -
16-89986252-T-G MC1R c.586T>G p.Phe196Val Missense 1/1 -
16-89985837-G-A MC1R c.171G>A p.Ala57Ala Synonymous 1/1 -
16-89985913-T-C MC1R c.247T>C p.Ser83Pro Missense 1/1 -
16-89986083-C-T MC1R c.417C>T p.Ala139Ala Synonymous 1/1 -
16-89986083-C-G MC1R c.417C>G p.Ala139Ala Synonymous 1/1 -
16-89986551-C-G MC1R c.885C>G p.Pro295Pro Synonymous 1/1 -
16-89985999-G-A MC1R c.333G>A p.Ala111Ala Synonymous 1/1 -
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
16-89986049-T-C MC1R c.383T>C p.Met128Thr Missense 1/1 -
16-89986025-T-C MC1R c.359T>C p.Ile120Thr Missense 1/1 -
16-89985931-G-A MC1R c.265G>A p.Gly89Arg Missense 1/1 -
16-89986622-C-T MC1R c.*2C>T - 3-UTRSNV 1/1 -
16-89986481-CGT-CGTCGT MC1R c.815_817dup p.Thr272_cys273insSer InFrameInsertion 1/1 -
16-89986365-G-A MC1R c.699G>A p.Gln233Gln Synonymous 1/1 -
16-89986546-G-A MC1R c.880G>A p.Asp294Asn Missense 1/1 -
16-89986133-T-C MC1R c.467T>C p.Val156Ala Missense 1/1 -
16-89986186-G-A MC1R c.520G>A p.Val174Ile 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 -
16-89986148-C-A MC1R c.482C>A p.Ala161Glu Missense 1/1 -
16-89985940-G-A MC1R c.274G>A p.Val92Met Missense 1/1 -
16-89985778-G-A MC1R c.112G>A p.Val38Met Missense 1/1 -
16-89986242-C-G MC1R c.576C>G p.Leu192Leu Synonymous 1/1 -
16-89986242-C-T MC1R c.576C>T p.Leu192Leu Synonymous 1/1 -
16-89986186-G-C MC1R c.520G>C p.Val174Leu Missense 1/1 -
16-89985984-G-T MC1R c.318G>T p.Leu106Leu Synonymous 1/1 -
16-89986162-G-GG MC1R c.496dupG p.Ala166Glyfs*73 Frameshift 1/1 -
16-89985984-G-A MC1R c.318G>A p.Leu106Leu Synonymous 1/1 -
16-89986016-A-G MC1R c.350A>G p.Asp117Gly Missense 1/1 -
16-89986221-C-T MC1R c.555C>T p.His185His Synonymous 1/1 -
16-89986608-A-G MC1R c.942A>G p.Thr314Thr Synonymous 1/1 -
16-89986117-C-A MC1R c.451C>A p.Arg151Ser Missense 1/1 -
16-89986117-C-G MC1R c.451C>G p.Arg151Gly Missense 1/1 -
16-89985931-G-C MC1R c.265G>C p.Gly89Arg Missense 1/1 -
16-89986503-C-A MC1R c.837C>A p.Asn279Lys Missense 1/1 -
16-89986458-C-T MC1R c.792C>T p.Ile264Ile Synonymous 1/1 -
16-89986252-T-C MC1R c.586T>C p.Phe196Leu Missense 1/1 -
16-89986203-C-CC MC1R c.537dupC p.Ile180Hisfs*59 Frameshift 1/1 -
16-89986049-T-A MC1R c.383T>A p.Met128Lys Missense 1/1 -
16-89986122-C-A MC1R c.456C>A p.Tyr152* Nonsense 1/1 -
16-89986130-T-C MC1R c.464T>C p.Ile155Thr Missense 1/1 -
16-89986119-C-G MC1R c.453C>G p.Arg151Arg Synonymous 1/1 -
16-89985766-C-T MC1R c.100C>T p.Arg34Trp Missense 1/1 -
16-89986016-A-T MC1R c.350A>T p.Asp117Val Missense 1/1 -
16-89986383-C-G MC1R c.717C>G p.Gly239Gly Synonymous 1/1 -
16-89986383-C-T MC1R c.717C>T p.Gly239Gly Synonymous 1/1 -