PMID: 30657907

A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect.

Human molecular genetics
K Zorina-Lichtenwalter, RN Lichtenwalter, DV Zaykin, M Parisien, S Gravel, A Bortsov, L Diatchenko
2019-06-15

59 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
16-89986583-G-A MC1R c.917G>A p.Arg306His Missense 1/1 -
15-28230318-C-T OCA2 c.1256G>A p.Arg419Gln Missense 13/24 -
6-396321-C-T IRF4 c.492+386C>T - IntronicSNV - 4/8
16-89985844-G-T MC1R c.178G>T p.Val60Leu Missense 1/1 -
5-33958959-C-A SLC45A2 c.889-4350G>T - IntronicSNV - 3/6
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -
16-89985067-C-T MC1R c.1-600C>T - 5-UTRSNV 1/1 -
14-92801203-G-A SLC24A4 c.241+8881G>A - IntronicSNV - 2/16
16-89985222-G-A MC1R c.1-445G>A - 5-UTRSNV 1/1 -
15-28260053-G-A OCA2 c.913C>T p.Arg305Trp Missense 9/24 -
16-89985913-T-C MC1R c.247T>C p.Ser83Pro Missense 1/1 -
15-28335820-A-G OCA2 c.-22+8550T>C - intron_variant - 1/23
15-28335820-A-T OCA2 c.-22+8550T>A - intron_variant - 1/23
16-89986303-C-G MC1R c.637C>G p.Arg213Gly Missense 1/1 -
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
16-89985067-C-G MC1R c.1-600C>G - 5-UTRSNV 1/1 -
16-89985067-C-A MC1R c.1-600C>A - 5-UTRSNV 1/1 -
16-89987201-A-G MC1R c.*581A>G - 3-UTRSNV 1/1 -
16-89986158-C-T MC1R c.492C>T p.Ala164Ala Synonymous 1/1 -
16-89986181-G-A MC1R c.515G>A p.Ser172Asn Missense 1/1 -
16-89986181-G-T MC1R c.515G>T p.Ser172Ile Missense 1/1 -
5-33951693-C-G SLC45A2 c.1122G>C p.Leu374Phe Missense 5/7 -
16-89986546-G-C MC1R c.880G>C p.Asp294His Missense 1/1 -
16-89986752-T-C MC1R c.*132T>C - 3-UTRSNV 1/1 -
16-89985557-A-C MC1R c.1-110A>C - 5-UTRSNV 1/1 -
16-89987359-A-T MC1R c.*739A>T - 3-UTRSNV 1/1 -
15-28356859-C-T HERC2 c.*50G>A - 3-UTRSNV 93/93 -
16-89985752-A-AA MC1R c.86dupA p.Asn29Lysfs*14 Frameshift 1/1 -
16-89985940-G-A MC1R c.274G>A p.Val92Met Missense 1/1 -
16-89818732-C-G FANCA c.2982-102G>C - IntronicSNV - 30/42
16-89985950-C-T MC1R c.284C>T p.Thr95Met Missense 1/1 -
16-89985177-C-T MC1R c.1-490C>T - 5-UTRSNV 1/1 -
16-89986303-C-T MC1R c.637C>T p.Arg213Trp Missense 1/1 -
15-28365618-A-G HERC2 c.13272+874T>C - IntronicSNV - 86/92
16-89985557-A-T MC1R c.1-110A>T - 5-UTRSNV 1/1 -
16-89985778-G-A MC1R c.112G>A p.Val38Met Missense 1/1 -
15-28344238-A-G OCA2 c.-22+132T>C - intron_variant - 1/23
5-33951693-C-A SLC45A2 c.1122G>T p.Leu374Phe Missense 5/7 -
9-12709305-C-A TYRP1 c.*123C>A - 3-UTRSNV 8/8 -
16-89986221-C-T MC1R c.555C>T p.His185His Synonymous 1/1 -
16-89986503-C-A MC1R c.837C>A p.Asn279Lys Missense 1/1 -
16-89986608-A-G MC1R c.942A>G p.Thr314Thr Synonymous 1/1 -
16-89986154-G-A MC1R c.488G>A p.Arg163Gln Missense 1/1 -
16-89985311-A-G MC1R c.1-356A>G - 5-UTRSNV 1/1 -
16-89985553-G-A MC1R c.1-114G>A - 5-UTRSNV 1/1 -
16-89986144-C-T MC1R c.478C>T p.Arg160Trp Missense 1/1 -
16-89986117-C-T MC1R c.451C>T p.Arg151Cys Missense 1/1 -
11-88911696-C-A TYR c.575C>A p.Ser192Tyr Missense 1/5 -
16-89985131-C-T MC1R c.1-536C>T - 5-UTRSNV 1/1 -
16-89986203-C-CC MC1R c.537dupC p.Ile180Hisfs*59 Frameshift 1/1 -
16-89986130-T-C MC1R c.464T>C p.Ile155Thr Missense 1/1 -
16-89986122-C-A MC1R c.456C>A p.Tyr152* Nonsense 1/1 -
20-33218090-G-A PIGU c.529+4329C>T - IntronicSNV - 6/11
11-68846399-A-C TPCN2 c.1450A>C p.Met484Leu Missense 16/25 -
11-68846399-A-T TPCN2 c.1450A>T p.Met484Leu Missense 16/25 -
16-89986383-C-G MC1R c.717C>G p.Gly239Gly Synonymous 1/1 -
16-89986111-G-A MC1R c.445G>A p.Ala149Thr Missense 1/1 -
16-89986383-C-T MC1R c.717C>T p.Gly239Gly Synonymous 1/1 -