Results for the protein: Q01718

Results for the Protein: Q01718

399002

4158

MC2R

NCBI, UniProt

ACTHR_HUMAN RecName: Full=Adrenocorticotropic hormone receptor; Short=ACTH receptor; Short=ACTH-R; AltName: Full=Adrenocorticotropin receptor; AltName: Full=Melanocortin receptor 2; Short=MC2-R

Known Diseases associated with this Protein:
GLUCOCORTICOID DEFICIENCY 1
GLUCOCORTICOID DEFICIENCY 1 (GCCD1)

18

3

9

1

11

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Default View: 7TM_GPCR_Srsx - pfam10320 7tm_1 - pfam00001	Swiss-Prot Protein: Q01718 Identical to: NP_000520 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
7TM_GPCR_Srsx	pfam10320	1.7e-05	35	291

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_003512	Disease	p.ARG128CYS	Glucocorticoid deficiency 1 (GCCD1)
Swiss-Prot	VAR_003513	Disease	p.ARG146HIS	Glucocorticoid deficiency 1 (GCCD1)
Swiss-Prot	VAR_064986	Polymorphism	p.ARG137PRO	N/A
Swiss-Prot	VAR_010703	Disease	p.ARG137TRP	Glucocorticoid deficiency 1 (GCCD1)
Swiss-Prot	VAR_010702	Disease	p.ASP103ASN	Glucocorticoid deficiency 1 (GCCD1)
Swiss-Prot	VAR_015095	Disease	p.ASP107ASN	Glucocorticoid deficiency 1 (GCCD1)
Swiss-Prot	VAR_015096	Disease	p.CYS251PHE	Glucocorticoid deficiency 1 (GCCD1)
dbSNP	rs28926182	Polymorphism	p.PHE278CYS	N/A
Swiss-Prot	VAR_003509	Polymorphism	p.PRO27ARG	N/A
Swiss-Prot	VAR_003511	Disease	p.SER120ARG	Glucocorticoid deficiency 1 (GCCD1)
Swiss-Prot	VAR_003510	Disease	p.SER74ILE	Glucocorticoid deficiency 1 (GCCD1)
Swiss-Prot	VAR_015295	Disease	p.TYR254CYS	Glucocorticoid deficiency 1 (GCCD1)
OMIM	607397.0010	Disease	p.ALA126SER	GLUCOCORTICOID DEFICIENCY 1
OMIM	607397.0004	Disease	p.ARG128CYS	GLUCOCORTICOID DEFICIENCY 1
OMIM	607397.0002	Disease	p.ARG201TER	GLUCOCORTICOID DEFICIENCY 1
OMIM	607397.0008	Disease	p.ARG137TRP	GLUCOCORTICOID DEFICIENCY 1
OMIM	607397.0005	Disease	p.ASP107ASN	GLUCOCORTICOID DEFICIENCY 1
OMIM	607397.0007	Disease	p.CYS251PHE	GLUCOCORTICOID DEFICIENCY 1
OMIM	607397.0003	Disease	p.SER120ARG	GLUCOCORTICOID DEFICIENCY 1
OMIM	607397.0001	Disease	p.SER74ILE	GLUCOCORTICOID DEFICIENCY 1
OMIM	607397.0009	Disease	p.TYR254CYS	GLUCOCORTICOID DEFICIENCY 1

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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