Results for the protein: P32245

Results for the Protein: P32245

60392672

4160

MC4R

NCBI, UniProt

MC4R_HUMAN RecName: Full=Melanocortin receptor 4; Short=MC4-R

Known Diseases associated with this Protein:
OBESITY
OBESITY (OBESITY)

44

4

16

1

31

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Default View: 7TM_GPCR_Srsx - pfam10320 7tm_1 - pfam00001	Swiss-Prot Protein: P32245 Identical to: NP_005903 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
7TM_GPCR_Srsx	pfam10320	3.9e-05	55	317

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_038646	Disease	p.ALA175THR	Obesity (OBESITY)
Swiss-Prot	VAR_038648	Disease	p.ALA219VAL	Obesity (OBESITY)
Swiss-Prot	VAR_038644	Disease	p.ARG165GLN	Obesity (OBESITY)
Swiss-Prot	VAR_010709	Disease	p.ARG165TRP	Obesity (OBESITY)
Swiss-Prot	VAR_038638	Disease	p.ASN97ASP	Obesity (OBESITY)
Swiss-Prot	VAR_015357	Disease	p.ASN274SER	Obesity (OBESITY)
Swiss-Prot	VAR_038636	Disease	p.ASN62SER	Obesity (OBESITY)
Swiss-Prot	VAR_010705	Disease	p.ASP37VAL	Obesity (OBESITY)
Swiss-Prot	VAR_038651	Disease	p.CYS271ARG	Obesity (OBESITY)
Swiss-Prot	VAR_038652	Disease	p.CYS271TYR	Obesity (OBESITY)
Swiss-Prot	VAR_038647	Disease	p.GLY181ASP	Obesity (OBESITY)
Swiss-Prot	VAR_010711	Disease	p.GLY252SER	Obesity (OBESITY)
Swiss-Prot	VAR_010710	Polymorphism	p.ILE251LEU	N/A
Swiss-Prot	VAR_038642	Disease	p.ILE125LYS	Obesity (OBESITY)
Swiss-Prot	VAR_038639	Disease	p.ILE102SER	Obesity (OBESITY)
Swiss-Prot	VAR_038653	Disease	p.ILE316SER	Obesity (OBESITY)
Swiss-Prot	VAR_038640	Disease	p.ILE102THR	Obesity (OBESITY)
Swiss-Prot	VAR_038649	Polymorphism	p.ILE226THR	N/A
Swiss-Prot	VAR_010712	Disease	p.ILE317THR	Obesity (OBESITY)
Swiss-Prot	VAR_038645	Disease	p.ILE170VAL	Obesity (OBESITY)
Swiss-Prot	VAR_038654	Disease	p.LEU325PHE	Obesity (OBESITY)
Swiss-Prot	VAR_038641	Disease	p.LEU106PRO	Obesity (OBESITY)
Swiss-Prot	VAR_010706	Disease	p.PRO78LEU	Obesity (OBESITY)
Swiss-Prot	VAR_010704	Disease	p.SER30ARG	Obesity (OBESITY)
Swiss-Prot	VAR_038635	Disease	p.SER58CYS	Obesity (OBESITY)
Swiss-Prot	VAR_038643	Disease	p.SER127LEU	Obesity (OBESITY)
Swiss-Prot	VAR_038633	Disease	p.SER36TYR	Obesity (OBESITY)
Swiss-Prot	VAR_038632	Disease	p.THR11ALA	Obesity (OBESITY)
Swiss-Prot	VAR_010708	Polymorphism	p.THR112MET	N/A
dbSNP	rs2229616	Polymorphism	p.VAL103ILE	N/A
Swiss-Prot	VAR_038650	Disease	p.VAL253ILE	Obesity (OBESITY)
Swiss-Prot	VAR_038634	Disease	p.VAL50MET	Obesity (OBESITY)
OMIM	155541.0015	Disease	p.ALA175THR	OBESITY
OMIM	155541.0023	Disease	p.ALA219VAL	OBESITY
OMIM	155541.0018	Disease	p.ASN97ASP	OBESITY
OMIM	155541.0009	Disease	p.ASN274SER	OBESITY
OMIM	155541.0019	Disease	p.ASN62SER	OBESITY
OMIM	155541.0004	Disease	p.ASP37VAL	OBESITY
OMIM	155541.0014	Disease	p.CYS271TYR	OBESITY
OMIM	155541.0013	Disease	p.ILE125LYS	OBESITY
OMIM	155541.0007	Disease	p.ILE102SER	OBESITY
OMIM	155541.0016	Disease	p.ILE316SER	OBESITY
OMIM	155541.0008	Disease	p.ILE170VAL	OBESITY
OMIM	155541.0006	Disease	p.SER58CYS	OBESITY
OMIM	155541.0021	Disease	p.SER127LEU	OBESITY
OMIM	155541.0017	Disease	p.TYR287TER	OBESITY
OMIM	155541.0003	Disease	p.TYR35TER	OBESITY
OMIM	155541.0005	Disease	p.VAL50MET	OBESITY

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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