Genetic Variants and Mutations in Melanocortin Receptors
Explore the intricate details of genetic variants and mutations in melanocortin receptors (MC1R, MC2R, MC3R, MC4R) and associated proteins (MRAP1, MRAP2). Discover their implications in skin pigmentation, hair color, risk of skin cancers, and more.
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Fig. 1 A 63/64 209/210 1 151/152 49/50 189/190 241 110/111 POMC PC1 1 144 1 93 -LPH N-POMC PC1 PC1 PC2 60 1 77 1 39 1 1 31 pro -MSH -LPH -END ACTH PC2 PC2 PC2 PC2 1 28 1 -MSH 13 1 22 1 18 -MSH -MSH CLIP B * * **** --------GPSYSMEHFRWGKPVGKKRRPVKVYPNGAEDESAEAFPLEF -MSH----------SYSMEHFRWGKPV-------------------------- -MSH ---AEKKDEGPYRMEHFRWGSPPKD------------------------ -MSH -----------YVMGHFRWDRFG-------------------------- ACTH
Fig. 2 MC1R 1 extracellular matrix 184 37 118 267 94 191 279 PM 212 cytosol 240 141 64 163 301 72 318 missense variants associated with increased risk of melanoma missense variants associated with red hair color nonsense variants associated with red hair color missense variants associated with freckles missense variants associated with basal cell carcinoma
Fig. 3 MC2R MRAP1 extracellular matrix 1 1 23 80 180 170 256 245 37 105 plasma membrane 127 50 147 58 200 279 59 217 78 cytosol 103 90 298 126 114 149 137 v missense mutations nonsense mutations 161 small deletions small insertions missense mutation or small deletion 173
Fig. 4 MC3R MRAP2 1 77 303 221 217 137 153 314 1 44 271 185 195 251 104 109 341 361 MC4R 66 1 87 76 113 101 191 280 41 123 187 107 271 125 137 144 155 v 168 147 70 215 165 305 81 248 194 181 206 missense mutations nonsense mutations 333 missense mutation or a small deletion missense mutation or a small insertion nonsense mutation or a small insertion small deletions small insertions
