Results for the protein: NP

Results for the Protein: NP_570714

18860853

4221

MEN1

NCBI

menin isoform 1 [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_570714 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.THR546ALA	N/A
OMIM	613733.0016	Disease	p.ARG460TER	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
OMIM	613733.0012	Disease	p.ARG527TER	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
OMIM	613733.0027	Disease	p.ASP418ASN	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
OMIM	613733.0029	Disease	p.CYS354TER	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
OMIM	613733.0014	Disease	p.GLN260TER	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
OMIM	613733.0020	Disease	p.GLU255LYS	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.THR552SER	ADRENAL ADENOMA, SOMATIC
OMIM	613733.0010	Disease	p.TRP436ARG	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
OMIM	613733.0006	Disease	p.TRP198TER	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
OMIM	613733.0011	Disease	p.TRP436TER	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
OMIM	613733.0021	Disease	p.VAL184GLU	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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