Results for the protein: O00255

Results for the Protein: O00255

317373574

4221

MEN1

NCBI, UniProt

MEN1_HUMAN RecName: Full=Menin

Known Diseases associated with this Protein:
FAMILIAL ISOLATED HYPERPARATHYROIDISM (FIHP)
FAMILIAL MULTIPLE ENDOCRINE NEOPLASIA TYPE I (MEN1)

96

8

0

0

104

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Default View: Menin - pfam05053	Swiss-Prot Protein: O00255 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_005438	Disease	p.ALA169ASP	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_005455	Disease	p.ALA342ASP	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_005460	Disease	p.ALA373ASP	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_005451	Disease	p.ALA289GLU	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_005437	Disease	p.ALA165PRO	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_005442	Disease	p.ALA181PRO	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039617	Polymorphism	p.ALA289PRO	N/A
Swiss-Prot	VAR_005453	Disease	p.ALA314PRO	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039624	Disease	p.ALA330PRO	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039625	Disease	p.ALA342PRO	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039626	Disease	p.ALA347PRO	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039634	Disease	p.ALA416PRO	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039595	Disease	p.ALA165THR	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_005447	Disease	p.ALA247VAL	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039633	Disease	p.ALA390VAL	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039643	Disease	p.ARG532CYS	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_005440	Polymorphism	p.ARG176GLN	N/A
Swiss-Prot	VAR_039605	Disease	p.ARG234LEU	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039588	Disease	p.ARG98LEU	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_005454	Disease	p.ARG319PRO	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039636	Disease	p.ARG420PRO	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039629	Disease	p.ARG360TRP	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_005461	Disease	p.ASP423ASN	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039630	Disease	p.ASP362HIS	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039637	Disease	p.ASP423HIS	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_005441	Disease	p.ASP177TYR	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039592	Disease	p.ASP158VAL	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039597	Disease	p.CYS170ARG	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_008018	Disease	p.CYS246ARG	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039607	Disease	p.CYS246PHE	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039608	Disease	p.CYS246TYR	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039638	Disease	p.CYS426TYR	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039612	Disease	p.GLN265PRO	Familial isolated hyperparathyroidism (FIHP)
Swiss-Prot	VAR_039614	Polymorphism	p.GLU279ALA	N/A
Swiss-Prot	VAR_005443	Disease	p.GLU184ASP	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039600	Disease	p.GLU184GLN	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_005430	Disease	p.GLU45GLY	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039599	Disease	p.GLU184LYS	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_005427	Disease	p.GLU26LYS	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_005448	Disease	p.GLU260LYS	Familial isolated hyperparathyroidism (FIHP)
Swiss-Prot	VAR_005458	Disease	p.GLU364LYS	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039587	Disease	p.GLU45LYS	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039604	Disease	p.GLY230ARG	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039616	Disease	p.GLY286ARG	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_008017	Disease	p.GLY161ASP	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039618	Disease	p.GLY310ASP	Familial isolated hyperparathyroidism (FIHP)
Swiss-Prot	VAR_005429	Disease	p.GLY42ASP	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039589	Disease	p.GLY110GLU	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039591	Disease	p.HIS139ARG	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039601	Disease	p.HIS186ARG	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039620	Disease	p.HIS322ARG	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_005432	Disease	p.HIS139ASP	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039590	Disease	p.HIS139PRO	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_005433	Disease	p.HIS139TYR	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039621	Disease	p.HIS322TYR	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039627	Disease	p.ILE353ASN	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039631	Disease	p.ILE377MET	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_065153	Disease	p.ILE147PHE	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_005426	Disease	p.LEU22ARG	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039611	Disease	p.LEU264ARG	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_065155	Disease	p.LEU418ARG	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039598	Disease	p.LEU173PRO	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_005446	Disease	p.LEU228PRO	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_005449	Disease	p.LEU269PRO	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_005450	Disease	p.LEU272PRO	Familial isolated hyperparathyroidism (FIHP)
Swiss-Prot	VAR_005452	Disease	p.LEU291PRO	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039635	Disease	p.LEU419PRO	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039642	Disease	p.LEU449PRO	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_065154	Polymorphism	p.LEU157TRP	N/A
Swiss-Prot	VAR_005428	Disease	p.LEU39TRP	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_005434	Disease	p.LYS135ILE	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_005465	Disease	p.PHE452SER	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_005436	Disease	p.PHE144VAL	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039623	Disease	p.PRO325ARG	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039615	Disease	p.PRO282HIS	Familial isolated hyperparathyroidism (FIHP)
Swiss-Prot	VAR_005425	Disease	p.PRO12LEU	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039622	Disease	p.PRO325LEU	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039632	Disease	p.PRO378SER	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039644	Disease	p.PRO545SER	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039645	Disease	p.PRO549SER	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039640	Disease	p.SER432ARG	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039647	Disease	p.SER560ARG	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_005467	Disease	p.SER560ASN	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039593	Disease	p.SER159ILE	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039594	Disease	p.SER160PHE	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039609	Disease	p.SER258PRO	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039610	Polymorphism	p.SER258TRP	N/A
Swiss-Prot	VAR_005466	Polymorphism	p.THR546ALA	N/A
Swiss-Prot	VAR_005457	Disease	p.THR349ARG	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039619	Disease	p.THR316PRO	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039646	Polymorphism	p.THR557SER	N/A
Swiss-Prot	VAR_039602	Disease	p.TRP188ARG	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_005456	Disease	p.TRP346ARG	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_005464	Disease	p.TRP441ARG	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039641	Disease	p.TRP441CYS	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_065156	Disease	p.TRP476CYS	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_005444	Disease	p.TRP188SER	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039639	Disease	p.TRP428SER	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039628	Disease	p.TYR358ASP	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_005445	Disease	p.VAL189GLU	Familial isolated hyperparathyroidism (FIHP)
Swiss-Prot	VAR_039603	Disease	p.VAL220MET	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_039596	Disease	p.VAL167PHE	Familial multiple endocrine neoplasia type I (MEN1)
Swiss-Prot	VAR_064937	Polymorphism	p.VAL220PHE	N/A
Swiss-Prot	VAR_039606	Disease	p.VAL245PHE	Familial multiple endocrine neoplasia type I (MEN1)

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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