PMID: 9287296

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
1997-09-12

18 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89986504-TT-GC MC1R c.838_839delTTinsGC p.Phe280Ala Missense 1/1 -
16-89986027-G-A MC1R c.361G>A p.Asp121Asn Missense 1/1 -
16-89986252-TT-GC MC1R c.586_587delTTinsGC p.Phe196Ala Missense 1/1 -
16-89986213-TA-GC MC1R c.547_548delTAinsGC p.Tyr183Ala Missense 1/1 -
16-89986444-CA-GC MC1R c.778_779delCAinsGC p.His260Ala Missense 1/1 -
16-89986201-TT-GC MC1R c.535_536delTTinsGC p.Phe179Ala Missense 1/1 -
16-89986435-TT-GC MC1R c.769_770delTTinsGC p.Phe257Ala Missense 1/1 -
18-13884973-AA-GC MC2R c.544_545delTTinsGC p.Phe182Ala Missense 2/2 -
16-89986028-A-C MC1R c.362A>C p.Asp121Ala Missense 1/1 -
16-89986507-AA-GC MC1R c.841_842delAAinsGC p.Asn281Ala Missense 1/1 -
16-89986189-TT-GC MC1R c.523_524delTTinsGC p.Phe175Ala Missense 1/1 -
16-89985947-A-C MC1R c.281A>C p.Glu94Ala Missense 1/1 -
16-89986210-TA-GC MC1R c.544_545delTAinsGC p.Tyr182Ala Missense 1/1 -
16-89986027-GA-CT MC1R c.361_362delGAinsCT p.Asp121Leu Missense 1/1 -
16-89986027-GAC-AAG MC1R c.361_363delGACinsAAG p.Asp121Lys Missense 1/1 -
16-89985946-G-A MC1R c.280G>A p.Glu94Lys Missense 1/1 -
16-89986249-TT-GC MC1R c.583_584delTTinsGC p.Phe195Ala Missense 1/1 -
16-89986016-A-C MC1R c.350A>C p.Asp117Ala Missense 1/1 -