Results for the protein: Q13423

Results for the Protein: Q13423

51338801

23530

NNT

NCBI, UniProt

NNTM_HUMAN RecName: Full=NAD(P) transhydrogenase, mitochondrial; AltName: Full=Nicotinamide nucleotide transhydrogenase; AltName: Full=Pyridine nucleotide transhydrogenase; Flags: Precursor

Known Diseases associated with this Protein:
GLUCOCORTICOID DEFICIENCY 4
GLUCOCORTICOID DEFICIENCY 4 (GCCD4)

15

2

4

2

11

Tips:

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Default View: Ald - COG0686 PntA - COG3288 AlaDh_PNT_N - pfam05222 AlaDh_PNT_C - pfam01262 PntB - COG1282 PNTB - pfam02233	Swiss-Prot Protein: Q13423 Identical to: NP_036475, NP_892022 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PntB	COG1282	6e-211	615	1080
PntA	COG3288	1.5e-171	58	433
AlaDh_PNT_C	pfam01262	8e-80	208	372
PNTB	pfam02233		618	1080
AlaDh_PNT_N	pfam05222	7.3e-65	60	199

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_068790	Disease	p.ALA1008PRO	Glucocorticoid deficiency 4 (GCCD4)
Swiss-Prot	VAR_068785	Disease	p.ALA533VAL	Glucocorticoid deficiency 4 (GCCD4)
Swiss-Prot	VAR_068791	Disease	p.ASN1009LYS	Glucocorticoid deficiency 4 (GCCD4)
Swiss-Prot	VAR_068786	Disease	p.GLY664ARG	Glucocorticoid deficiency 4 (GCCD4)
Swiss-Prot	VAR_068787	Disease	p.GLY678ARG	Glucocorticoid deficiency 4 (GCCD4)
Swiss-Prot	VAR_068788	Disease	p.GLY862ASP	Glucocorticoid deficiency 4 (GCCD4)
Swiss-Prot	VAR_068783	Disease	p.HIS365PRO	Glucocorticoid deficiency 4 (GCCD4)
dbSNP	rs41271083	Polymorphism	p.LEU663PHE	N/A
Swiss-Prot	VAR_068789	Disease	p.LEU977PRO	Glucocorticoid deficiency 4 (GCCD4)
dbSNP	rs35201656	Polymorphism	p.LYS63ARG	N/A
Swiss-Prot	VAR_068784	Disease	p.PRO437LEU	Glucocorticoid deficiency 4 (GCCD4)
Swiss-Prot	VAR_068781	Disease	p.SER193ASN	Glucocorticoid deficiency 4 (GCCD4)
Swiss-Prot	VAR_068782	Disease	p.THR357ALA	Glucocorticoid deficiency 4 (GCCD4)
OMIM	607878.0006	Disease	p.ALA1008PRO	GLUCOCORTICOID DEFICIENCY 4
OMIM	607878.0001	Disease	p.ALA533VAL	GLUCOCORTICOID DEFICIENCY 4
OMIM	607878.0005	Disease	p.ASN1009LYS	GLUCOCORTICOID DEFICIENCY 4
OMIM	607878.0003	Disease	p.LEU977PRO	GLUCOCORTICOID DEFICIENCY 4

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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