Results for the protein: NP

Results for the Protein: NP_570711

18860847

4221

MEN1

NCBI

menin isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  ADRENAL ADENOMA, SOMATIC
  ANGIOFIBROMA, SOMATIC
  HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY
  MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
  PARATHYROID ADENOMA, SOMATIC

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Default View: Menin - pfam05053	RefSeq Protein: NP_570711 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 ↕
dbSNP	rs2959656	Polymorphism	p.THR541ALA	N/A
OMIM	613733.0016	Disease	p.ARG455TER	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
OMIM	613733.0012	Disease	p.ARG522TER	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
OMIM	613733.0027	Disease	p.ASP413ASN	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
OMIM	613733.0029	Disease	p.CYS349TER	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
OMIM	613733.0014	Disease	p.GLN255TER	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
OMIM	613733.0020	Disease	p.GLU250LYS	HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY
OMIM	613733.0013	Disease	p.GLU26LYS	PARATHYROID ADENOMA, SOMATIC
OMIM	613733.0023	Disease	p.HIS139ASP	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
OMIM	613733.0001	Disease	p.LEU22ARG	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
OMIM	613733.0018	Disease	p.LYS135ILE	ANGIOFIBROMA, SOMATIC
OMIM	613733.0022	Disease	p.THR547SER	ADRENAL ADENOMA, SOMATIC
OMIM	613733.0010	Disease	p.TRP431ARG	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
OMIM	613733.0006	Disease	p.TRP193TER	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
OMIM	613733.0011	Disease	p.TRP431TER	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
OMIM	613733.0021	Disease	p.VAL179GLU	HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY

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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