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Results for the Protein: Q01726
12644376

MSHR_HUMAN RecName: Full=Melanocyte-stimulating hormone receptor; Short=MSH-R; AltName: Full=Melanocortin receptor 1; Short=MC1-R

Known Diseases associated with this Protein:
  INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFI
  MELANOMA, CUTANEOUS MALIGNANT 5 (CMM5)
  MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
  SKIN/HAIR/EYE PIGMENTATION 2, BLOND HAIR/FAIR SKIN
  SKIN/HAIR/EYE PIGMENTATION 2, BLOND HAIR/FAIR SKIN, INCLUDED
  SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN
  UV-INDUCED SKIN DAMAGE, SUSCEPTIBILITY TO
13
27
8
10
22
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7tm_1 - pfam00001


Swiss-Prot Protein: Q01726
Identical to: NP_002377
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_042661Polymorphismp.ALA166GLYN/A
dbSNPrs35784916 Polymorphismp.ALA171SERN/A
Swiss-ProtVAR_008522Polymorphismp.ARG151CYSN/A
dbSNPrs885479 Polymorphismp.ARG163GLNN/A
Swiss-ProtVAR_009522Polymorphismp.ARG67GLNN/A
dbSNPrs1805007 Polymorphismp.ARG151GLYN/A
Swiss-ProtVAR_059023Polymorphismp.ARG142HISN/A
Swiss-ProtVAR_013632Polymorphismp.ARG162PRON/A
dbSNPrs1805008 Polymorphismp.ARG160TRPN/A
Swiss-ProtVAR_059024Polymorphismp.ASN281SERN/A
Swiss-ProtVAR_003507Polymorphismp.ASP84GLUN/A
dbSNPrs1805009 Polymorphismp.ASP294HISN/A
Swiss-ProtVAR_059025Diseasep.CYS289ARGMelanoma, cutaneous malignant 5 (CMM5)
Swiss-ProtVAR_042654Polymorphismp.GLY89ARGN/A
Swiss-ProtVAR_042656Polymorphismp.GLY104SERN/A
dbSNPrs33932559 Polymorphismp.ILE120THRN/A
Swiss-ProtVAR_013614Polymorphismp.ILE155THRN/A
Swiss-ProtVAR_013611Polymorphismp.ILE40THRN/A
Swiss-ProtVAR_059021Polymorphismp.LEU93ARGN/A
Swiss-ProtVAR_042663Polymorphismp.LEU192METN/A
Swiss-ProtVAR_059022Diseasep.MET128THRMelanoma, cutaneous malignant 5 (CMM5)
dbSNPrs3212366 Polymorphismp.PHE196LEUN/A
Swiss-ProtVAR_042660Polymorphismp.PRO159THRN/A
Swiss-ProtVAR_059019Diseasep.SER41PHEMelanoma, cutaneous malignant 5 (CMM5)
Swiss-ProtVAR_042659Polymorphismp.THR157ILEN/A
Swiss-ProtVAR_042655Polymorphismp.THR95METN/A
Swiss-ProtVAR_059020Diseasep.VAL51ALAMelanoma, cutaneous malignant 5 (CMM5)
dbSNPrs3212365 Polymorphismp.VAL156LEUN/A
dbSNPrs1805005 Polymorphismp.VAL60LEUN/A
Swiss-ProtVAR_013613Polymorphismp.VAL122METN/A
Swiss-ProtVAR_059018Diseasep.VAL38METMelanoma, cutaneous malignant 5 (CMM5)
dbSNPrs2228479 Polymorphismp.VAL92METN/A
OMIM155555.0004 Diseasep.ARG151CYSSKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN||INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFI
OMIM155555.0005 Diseasep.ARG160TRPSKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN||INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFI
OMIM155555.0003 Diseasep.ASP84GLUMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
OMIM155555.0001 Diseasep.ASP294HISSKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN
OMIM155555.0009 Diseasep.PRO159THRUV-INDUCED SKIN DAMAGE, SUSCEPTIBILITY TO
OMIM155555.0008 Diseasep.THR157ILEUV-INDUCED SKIN DAMAGE, SUSCEPTIBILITY TO
OMIM155555.0006 Diseasep.VAL60LEUSKIN/HAIR/EYE PIGMENTATION 2, BLOND HAIR/FAIR SKIN
OMIM155555.0002 Diseasep.VAL92METSKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN||SKIN/HAIR/EYE PIGMENTATION 2, BLOND HAIR/FAIR SKIN, INCLUDED



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