Variant ID: 16-89986027-G-A

NM_002386.3(MC1R):c.361G>A;(p.Asp121Asn)

This variant was identified in 11 publications




Publications:


Transcriptome profiling analysis reveals key genes of different coat color in sheep skin.

Peerj
L Yao, A Bao, W Hong, C Hou, Z Zhang, X Liang, J Aniwashi
Publication Date: 2019

Variant appearance in text: MC1R: 361G>A
PubMed Link: 31772839
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Revealing the selection history of adaptive loci using genome-wide scans for selection: an example from domestic sheep.

Bmc Genomics
CM Rochus, F Tortereau, F Plisson-Petit, G Restoux, C Moreno-Romieux, G Tosser-Klopp, B Servin
Publication Date: 2018-01-23

Variant appearance in text: MC1R: 361G>A
PubMed Link: 29357834
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Allelic variation of melanocortin-1 receptor locus in Saudi indigenous sheep exhibiting different color coats.

Asian-Australasian Journal Of Animal Sciences
AH Mahmoud, AM Mashaly, AM Rady, KM Al-Anazi, AA Saleh
Publication Date: 2017-02

Variant appearance in text: MC1R: 361G>A; Asp121Asn
PubMed Link: 27492350
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Domestic animals as models for biomedical research.

Upsala Journal Of Medical Sciences
L Andersson
Publication Date: 2016

Variant appearance in text: MC1R: D121N
PubMed Link: 26479863
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations in MC1R gene determine black coat color phenotype in Chinese sheep.

Thescientificworldjournal
GL Yang, DL Fu, X Lang, YT Wang, SR Cheng, SL Fang, YZ Luo
Publication Date: 2013

Variant appearance in text: MC1R: 361G>A; D121N
PubMed Link: 24082855
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Family of melanocortin receptor (MCR) genes in mammals-mutations, polymorphisms and phenotypic effects.

Journal Of Applied Genetics
M Switonski, M Mankowska, S Salamon
Publication Date: 2013-11

Variant appearance in text: MC1R: Asp121Asn
PubMed Link: 23996627
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



The E92K melanocortin 1 receptor mutant induces cAMP production and arrestin recruitment but not ERK activity indicating biased constitutive signaling.

Plos One
T Benned-Jensen, J Mokrosinski, MM Rosenkilde
Publication Date: 2011

Variant appearance in text: MC1R: D121N
PubMed Link: 21931793
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



A composite six bp in-frame deletion in the melanocortin 1 receptor (MC1R) gene is associated with the Japanese brindling coat colour in rabbits (Oryctolagus cuniculus).

Bmc Genetics
L Fontanesi, E Scotti, M Colombo, F Beretti, L Forestier, S Dall'Olio, S Deretz, V Russo, D Allain, A Oulmouden
Publication Date: 2010-07-01

Variant appearance in text: MC1R: D121N
PubMed Link: 20594318
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



High diversity in functional properties of melanocortin 1 receptor (MC1R) in divergent primate species is more strongly associated with phylogeny than coat color.

Molecular Biology And Evolution
T Haitina, A Ringholm, J Kelly, NI Mundy, HB Schiƶth
Publication Date: 2007-09

Variant appearance in text: MC1R: D121N
PubMed Link: 17609536
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



A frameshift mutation in MC1R and a high frequency of somatic reversions cause black spotting in pigs.

Genetics
JM Kijas, M Moller, G Plastow, L Andersson
Publication Date: 2001-06

Variant appearance in text: MC1R: D121N
PubMed Link: 11404341
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular basis for the interaction of [Nle4,D-Phe7]melanocyte stimulating hormone with the human melanocortin-1 receptor.

The Journal Of Biological Chemistry
Yk Yang, C Dickinson, C Haskell-Luevano, I Gantz
Publication Date: 1997-09-12

Variant appearance in text: MC1R: D121N
PubMed Link: 9287296
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.707G>A - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.361G>A p.Asp121Asn missense_variant 1/1 -
ENST00000555427.1 c.361G>A p.Asp121Asn missense_variant 3/4 -
ENST00000556922.1 c.361G>A p.Asp121Asn missense_variant 1/5 -
NM_002386.3 c.361G>A p.Asp121Asn missense_variant 1/1 -