Results for the protein: P01185

Results for the Protein: P01185

128083

551

AVP

NCBI, UniProt

NEU2_HUMAN RecName: Full=Vasopressin-neurophysin 2-copeptin; AltName: Full=AVP-NPII; Contains: RecName: Full=Arg-vasopressin; AltName: Full=Arginine-vasopressin; Contains: RecName: Full=Neurophysin 2; AltName: Full=Neurophysin-II; Contains: RecName: Full=Copeptin; Flags: Precursor

Known Diseases associated with this Protein:
  DIABETES INSIPIDUS, NEUROHYPOPHYSEAL
  DIABETES INSIPIDUS, NEUROHYPOPHYSEAL (NDI)
  DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOSOMAL RECESSIVE

53

2

14

0

41

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: NH - smart00003	Swiss-Prot Protein: P01185 Identical to: NP_000481 Default View:

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-Prot	VAR_029999	Disease	p.ALA99PRO	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_004981	Disease	p.ALA19THR	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_004982	Disease	p.ALA19VAL	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_004985	Disease	p.ARG51CYS	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_015272	Disease	p.ARG97CYS	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_015273	Disease	p.ARG97PRO	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_015276	Disease	p.CYS105ARG	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_015278	Disease	p.CYS116ARG	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_015264	Disease	p.CYS52ARG	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_015267	Disease	p.CYS59ARG	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_019275	Disease	p.CYS104GLY	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_015277	Disease	p.CYS116GLY	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_015274	Disease	p.CYS98GLY	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_015275	Disease	p.CYS104PHE	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_029997	Disease	p.CYS58PHE	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_004992	Disease	p.CYS92SER	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_029998	Disease	p.CYS98SER	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_019276	Disease	p.CYS116TRP	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_015279	Disease	p.CYS105TYR	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_015268	Disease	p.CYS59TYR	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_015270	Disease	p.CYS92TYR	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_004988	Disease	p.GLU78GLY	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_004983	Disease	p.GLY45ARG	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_015265	Disease	p.GLY54ARG	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_004990	Disease	p.GLY88ARG	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_019274	Disease	p.GLY96ASP	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_004994	Disease	p.GLY96CYS	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_004991	Disease	p.GLY88SER	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_004993	Disease	p.GLY93TRP	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_011895	Polymorphism	p.GLY119VAL	N/A
Swiss-Prot	VAR_004984	Disease	p.GLY48VAL	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_015266	Disease	p.GLY54VAL	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_015271	Disease	p.GLY96VAL	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_004989	Disease	p.LEU81PRO	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_015263	Disease	p.PRO26LEU	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_004986	Disease	p.PRO55LEU	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_011894	Polymorphism	p.PRO82LEU	N/A
Swiss-Prot	VAR_004980	Disease	p.SER17PHE	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_015269	Disease	p.SER87PHE	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_015262	Disease	p.TYR21HIS	Diabetes insipidus, neurohypophyseal (NDI)
Swiss-Prot	VAR_019273	Disease	p.VAL67ALA	Diabetes insipidus, neurohypophyseal (NDI)
OMIM	192340.0017	Disease	p.CYS116GLY	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL
OMIM	192340.0005	Disease	p.CYS67TER	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL
OMIM	192340.0015	Disease	p.CYS61TYR	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL
OMIM	192340.0012	Disease	p.GLU82TER	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL
OMIM	192340.0011	Disease	p.GLY23ARG	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL
OMIM	192340.0001	Disease	p.GLY57SER	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL
OMIM	192340.0006	Disease	p.GLY62TRP	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL
OMIM	192340.0002	Disease	p.GLY17VAL	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL
OMIM	192340.0010	Disease	p.GLY23VAL	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL
OMIM	192340.0008	Disease	p.GLY65VAL	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL
OMIM	192340.0016	Disease	p.PRO7LEU	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOSOMAL RECESSIVE
OMIM	192340.0014	Disease	p.SER56PHE	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL
OMIM	192340.0018	Disease	p.TYR2HIS	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL
OMIM	192340.0019	Disease	p.VAL67ALA	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258