Variant ID: 16-89986111-G-A

NM_002386.3(MC1R):c.445G>A;(p.Ala149Thr)

This variant was identified in 7 publications




Publications:


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
Publication Date: 2019-06-15

Variant appearance in text: rs374423188
PubMed Link: 30657907
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline MC1R status influences somatic mutation burden in melanoma.

Nature Communications
CD Robles-Espinoza, ND Roberts, S Chen, FP Leacy, LB Alexandrov, N Pornputtapong, R Halaban, M Krauthammer, R Cui, D Timothy Bishop, DJ Adams
Publication Date: 2016-07-12

Variant appearance in text: MC1R: Ala149Thr
PubMed Link: 27403562
PubMed Central Link
Variant Present in the following documents:
  • ncomms12064-s1.pdf
View BVdb publication page



The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder.

Neurobiology Of Aging
Z Gan-Or, N Mohsin, SL Girard, JY Montplaisir, A Ambalavanan, S Strong, V Mallett, SB Laurent, CV Bourassa, M Boivin, M Langlois, I Arnulf, B Högl, B Frauscher, C Monaca, A Desautels, JF Gagnon, RB Postuma, PA Dion, Y Dauvilliers, N Dupre, RN Alcalay, GA Rouleau
Publication Date: 2016-07

Variant appearance in text: MC1R: 445G>A; A149T; rs374423188
PubMed Link: 27131830
PubMed Central Link
Variant Present in the following documents:
  • NIHMS776338-supplement-1.docx
View BVdb publication page



Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

Plos One
KA Wadt, LG Aoude, L Krogh, L Sunde, A Bojesen, K Grønskov, N Wartacz, J Ek, M Tolstrup-Andersen, M Klarskov-Andersen, Å Borg, S Heegaard, JF Kiilgaard, TV Hansen, K Klein, G Jönsson, KT Drzewiecki, M Dunø, NK Hayward, AM Gerdes
Publication Date: 2015

Variant appearance in text: MC1R: A149T
PubMed Link: 25803691
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Plos One
D Hepp, GL Gonçalves, TR de Freitas
Publication Date: 2015

Variant appearance in text: MC1R: A149T; rs374423188
PubMed Link: 25794181
PubMed Central Link
Variant Present in the following documents:
  • pone.0121812.s001.doc
View BVdb publication page



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
Publication Date: 2014-09

Variant appearance in text: MC1R: 445G>A; Ala149Thr
PubMed Link: 24807163
PubMed Central Link
Variant Present in the following documents:
  • NIHMS594139-supplement-Supp_Table_S1.doc
View BVdb publication page



Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population.

The British Journal Of Dermatology
JA Puig-Butillé, C Carrera, R Kumar, Z Garcia-Casado, C Badenas, P Aguilera, J Malvehy, E Nagore, S Puig
Publication Date: 2013-10

Variant appearance in text: MC1R: 445G>A; A149T
PubMed Link: 23647022
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.791G>A - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.445G>A p.Ala149Thr missense_variant 1/1 -
ENST00000555427.1 c.445G>A p.Ala149Thr missense_variant 3/4 -
ENST00000556922.1 c.445G>A p.Ala149Thr missense_variant 1/5 -
NM_002386.3 c.445G>A p.Ala149Thr missense_variant 1/1 -