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| Zeile 16: | Zeile 16: | ||
* negligable amount of all -> White | * negligable amount of all -> White | ||
| − | Common MC1R (melanocortin 1 receptor) gene (chromosome 16q24.3) variants: | + | Common MC1R (melanocortin 1 receptor; 317 positions) gene (chromosome 16q24.3) variants: |
* N29insA - red | * N29insA - red | ||
| + | * Phe45Leu (rs61996344) | ||
| + | * Ala57Val (rs117952179) | ||
* Val60Leu (rs1805005) - blonde | * Val60Leu (rs1805005) - blonde | ||
| + | * Arg67Gln (rs34090186) | ||
| + | * Ser83Pro (rs34474212) | ||
* Asp84Glu (rs1805006) | * Asp84Glu (rs1805006) | ||
| + | * Gly89Arg (rs34540312) | ||
* Val92Met (rs2228479) - red | * Val92Met (rs2228479) - red | ||
| + | * Thr95Met (rs34158934) | ||
| + | * Leu99Pro (rs192276807) | ||
* Gly104Ser (rs2229617) | * Gly104Ser (rs2229617) | ||
| + | * Ile120Thr (rs33932559) | ||
| + | * Arg142His (rs11547464) | ||
* Arg151Cys (rs1805007) - red | * Arg151Cys (rs1805007) - red | ||
* Arg151Gly (rs1805007) | * Arg151Gly (rs1805007) | ||
| + | * Arg151His (rs149922657) | ||
* Y152OCH | * Y152OCH | ||
* Ile155Thr (rs1110400) | * Ile155Thr (rs1110400) | ||
| Zeile 31: | Zeile 41: | ||
* Arg160Trp (rs1805008) - red | * Arg160Trp (rs1805008) - red | ||
* Arg142His (rs11547464) - red | * Arg142His (rs11547464) - red | ||
| + | * Ile155Thr (rs1110400) | ||
| + | * Val156Leu (rs3212365) | ||
| + | * Thr157Ile (rs104894524) | ||
| + | * Pro159Thr (rs104894523) | ||
| + | * Arg160Trp (rs1805008) | ||
* Arg163Gln (rs885479) - blonde | * Arg163Gln (rs885479) - blonde | ||
| + | * Ala166Gly (rs35040147) | ||
| + | * Ala171Ser (rs35784916) | ||
| + | * Phe196Leu (rs3212366) | ||
| + | * Leu211Val (rs188462456) | ||
* His260Pro | * His260Pro | ||
| + | * Thr272Met (rs12102534) | ||
* Asp294His (rs1805009) - red | * Asp294His (rs1805009) - red | ||
| − | * | + | * Thr314Thr (rs2228478) |
Uncommon variants: | Uncommon variants: | ||
* Arg307Gly - Neanderthal variant | * Arg307Gly - Neanderthal variant | ||
Version vom 11. April 2012, 22:53 Uhr
Melanin levels (only two of those can be on "high" at once, one from the father and one from the mother):
- Black Eumelanin (white to black)
- Brown Eumelanin (white to yellowish brown)
- Pheomelanin (white to red) - MC1R gene, alleles Arg151Cys, Arg160Trp, Asp294His, Arg142His - also inhibit melanin production in skin, resulting in a paler skin.
Typical combinations:
- Black Eumelanin only -> Black
- Brown Eumelanin only -> Brown
- Pheomelanin only -> Red
- Black Eumelanin & Brown Eumelanin -> Dark Brown
- Black Eumelanin & Pheomelanin -> Chestnut Brown
- Brown Eumelanin & Pheomelanin -> Auburn
- low amount of all -> Blonde
- negligable amount of all -> White
Common MC1R (melanocortin 1 receptor; 317 positions) gene (chromosome 16q24.3) variants:
- N29insA - red
- Phe45Leu (rs61996344)
- Ala57Val (rs117952179)
- Val60Leu (rs1805005) - blonde
- Arg67Gln (rs34090186)
- Ser83Pro (rs34474212)
- Asp84Glu (rs1805006)
- Gly89Arg (rs34540312)
- Val92Met (rs2228479) - red
- Thr95Met (rs34158934)
- Leu99Pro (rs192276807)
- Gly104Ser (rs2229617)
- Ile120Thr (rs33932559)
- Arg142His (rs11547464)
- Arg151Cys (rs1805007) - red
- Arg151Gly (rs1805007)
- Arg151His (rs149922657)
- Y152OCH
- Ile155Thr (rs1110400)
- Val156Leu (rs3212365)
- Thr157Ile (rs104894524)
- Pro159Thr (rs104894523)
- Arg160Trp (rs1805008) - red
- Arg142His (rs11547464) - red
- Ile155Thr (rs1110400)
- Val156Leu (rs3212365)
- Thr157Ile (rs104894524)
- Pro159Thr (rs104894523)
- Arg160Trp (rs1805008)
- Arg163Gln (rs885479) - blonde
- Ala166Gly (rs35040147)
- Ala171Ser (rs35784916)
- Phe196Leu (rs3212366)
- Leu211Val (rs188462456)
- His260Pro
- Thr272Met (rs12102534)
- Asp294His (rs1805009) - red
- Thr314Thr (rs2228478)
Uncommon variants:
- Arg307Gly - Neanderthal variant
- Phe147Delta
OCA2 gene (chromosome 15q11.2–12) variants:
- Arg305Trp (rs1800401)
- Arg419Gln (rs1800407) - red
- rs16950821
- rs7174027
- rs4778138 - brown
- rs4778241
- rs7495174
ASIP (agouti signaling protein) gene variants:
- rs1015362 - blonde-red
- rs6058017
- rs2378249
HERC2 (hect domain and RLD 2) gene variants:
- rs12913832 - black
- rs7183877
- rs11635884
- rs916977 - red
- rs8039195 - red
SLC45A2 gene variants:
- rs16891982 - black
- rs28777 - black
- rs26722 - black
IRF4 gene variants:
- rs12203592 - black
- rs9378805
EXOC2 gene variants:
- rs4959270 - black
TYRP1 gene (chromosome 9p23) variants:
- rs1408799
- rs2733832
- rs683
TYRP2 gene (chromosome 13q31–32) variants:
TPCN2 gene variants:
- rs35264875
- rs3829241
- rs2305498
- rs1011176
TYR gene (chromosome 11q14–21) variants:
- Ser192Tyr (rs1042602)
- Tyr192Ser - albino?
- Arg402Gln (rs1126809) - albino?
- rs1393350 - brown
KITLG gene variants:
- rs12821256
SLC24A4 gene variants:
- rs12896399
- rs4904868 - blonde
- rs2402130 - dark blonde
