Results for the protein: P02545

Results for the Protein: P02545

125962

4000

LMNA

NCBI, UniProt

LMNA_HUMAN RecName: Full=Prelamin-A/C; Contains: RecName: Full=Lamin-A/C; AltName: Full=70 kDa lamin; AltName: Full=Renal carcinoma antigen NY-REN-32; Flags: Precursor

Known Diseases associated with this Protein:
  CARDIOMYOPATHY, DILATED 1A (CMD1A)
  CARDIOMYOPATHY, DILATED, 1A
  CARDIOMYOPATHY, DILATED, 1A, INCLUDED
  CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTRIPIC HYPOGONADISM
  CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM (CMDHH)
  CHARCOT-MARIE-TOOTH DISEASE 2B1 (CMT2B1)
  CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1
  EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (EDMD2)
  EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE (EDMD3)
  EMERY-DREIFUSS MUSCULAR DYSTROPHY, ATYPICAL, AUTOSOMAL RECESSIVE
  EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
  HUTCHINSON-GILFORD PROGERIA SYNDROME
  HUTCHINSON-GILFORD PROGERIA SYNDROME (HGPS)
  HUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL
  HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET
  HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET, INCLUDED
  LIMB-GIRDLE MUSCULAR DYSTROPHY 1B (LGMD1B)
  LIPODYSTROPHY, FA
  LIPODYSTROPHY, FAMILIAL PARTIAL, 2 (FPLD2)
  LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
  LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, INCLUDED
  MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
  MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (MADA)
  MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL
  MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUD
  MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUDED;;
  MUSCULA
  MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED (MDCL)
  MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
  MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED, INCLUDED;;
  MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B
  RESTRICTIVE DERMOPATHY, LETHAL, INCLUDED
  VARIANT OF UNKNOWN SIGNIFICANCE

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Default View:	Swiss-Prot Protein: P02545 Identical to: NP_733821 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_017656	Disease	p.ALA57PRO	Cardiomyopathy, dilated, with hypergonadotropic hypogonadism (CMDHH)
Swiss-Prot	VAR_070179	Disease	p.ALA318THR	Cardiomyopathy, dilated 1A (CMD1A)
Swiss-Prot	VAR_039753	Disease	p.ALA43THR	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_034709	Disease	p.ALA529VAL	Mandibuloacral dysplasia with type A lipodystrophy (MADA)
Swiss-Prot	VAR_017661	Disease	p.ARG298CYS	Charcot-Marie-Tooth disease 2B1 (CMT2B1)
Swiss-Prot	VAR_039778	Disease	p.ARG399CYS	Lipodystrophy, familial partial, 2 (FPLD2)
Swiss-Prot	VAR_039779	Disease	p.ARG435CYS	Cardiomyopathy, dilated 1A (CMD1A)
Swiss-Prot	VAR_070181	Disease	p.ARG439CYS	Lipodystrophy, familial partial, 2 (FPLD2)
Swiss-Prot	VAR_017662	Disease	p.ARG471CYS	Hutchinson-Gilford progeria syndrome (HGPS)
Swiss-Prot	VAR_017663	Disease	p.ARG527CYS	Hutchinson-Gilford progeria syndrome (HGPS)
Swiss-Prot	VAR_039786	Polymorphism	p.ARG541CYS	N/A
Swiss-Prot	VAR_039792	Polymorphism	p.ARG644CYS	N/A
Swiss-Prot	VAR_039763	Disease	p.ARG190GLN	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_067697	Disease	p.ARG225GLN	Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3)
Swiss-Prot	VAR_009980	Disease	p.ARG249GLN	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_009983	Disease	p.ARG336GLN	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_009984	Disease	p.ARG343GLN	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_009992	Disease	p.ARG482GLN	Lipodystrophy, familial partial, 2 (FPLD2)
Swiss-Prot	VAR_039746	Disease	p.ARG25GLY	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_034706	Disease	p.ARG60GLY	Lipodystrophy, familial partial, 2 (FPLD2)
Swiss-Prot	VAR_039755	Disease	p.ARG62GLY	Lipodystrophy, familial partial, 2 (FPLD2)
Swiss-Prot	VAR_016205	Disease	p.ARG377HIS	Limb-girdle muscular dystrophy 1B (LGMD1B)
Swiss-Prot	VAR_070180	Disease	p.ARG388HIS	Cardiomyopathy, dilated 1A (CMD1A)
Swiss-Prot	VAR_070182	Disease	p.ARG471HIS	Cardiomyopathy, dilated 1A (CMD1A)
Swiss-Prot	VAR_018727	Disease	p.ARG527HIS	Mandibuloacral dysplasia with type A lipodystrophy (MADA)
Swiss-Prot	VAR_039787	Disease	p.ARG541HIS	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_009998	Disease	p.ARG582HIS	Lipodystrophy, familial partial, 2 (FPLD2)
Swiss-Prot	VAR_039791	Disease	p.ARG624HIS	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_016913	Disease	p.ARG133LEU	Lipodystrophy, familial partial, 2 (FPLD2)
Swiss-Prot	VAR_039776	Disease	p.ARG349LEU	Cardiomyopathy, dilated 1A (CMD1A)
Swiss-Prot	VAR_039777	Disease	p.ARG377LEU	Limb-girdle muscular dystrophy 1B (LGMD1B)
Swiss-Prot	VAR_009991	Disease	p.ARG482LEU	Lipodystrophy, familial partial, 2 (FPLD2)
Swiss-Prot	VAR_039758	Disease	p.ARG89LEU	Cardiomyopathy, dilated 1A (CMD1A)
Swiss-Prot	VAR_009987	Disease	p.ARG386LYS	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_070174	Disease	p.ARG101PRO	Cardiomyopathy, dilated 1A (CMD1A)
Swiss-Prot	VAR_017657	Disease	p.ARG133PRO	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_070176	Disease	p.ARG166PRO	Cardiomyopathy, dilated 1A (CMD1A)
Swiss-Prot	VAR_064962	Disease	p.ARG189PRO	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_039747	Disease	p.ARG25PRO	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_063592	Disease	p.ARG453PRO	Muscular dystrophy congenital LMNA-related (MDCL)
Swiss-Prot	VAR_063593	Disease	p.ARG455PRO	Muscular dystrophy congenital LMNA-related (MDCL)
Swiss-Prot	VAR_009972	Disease	p.ARG50PRO	Muscular dystrophy congenital LMNA-related (MDCL)
Swiss-Prot	VAR_009995	Disease	p.ARG527PRO	Lipodystrophy, familial partial, 2 (FPLD2)
Swiss-Prot	VAR_064975	Disease	p.ARG541PRO	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_039754	Disease	p.ARG50SER	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_039788	Disease	p.ARG541SER	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_039764	Disease	p.ARG190TRP	Cardiomyopathy, dilated 1A (CMD1A)
Swiss-Prot	VAR_063589	Disease	p.ARG249TRP	Muscular dystrophy congenital LMNA-related (MDCL)
Swiss-Prot	VAR_039748	Disease	p.ARG28TRP	Lipodystrophy, familial partial, 2 (FPLD2)
Swiss-Prot	VAR_009988	Disease	p.ARG453TRP	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_009993	Disease	p.ARG482TRP	Lipodystrophy, familial partial, 2 (FPLD2)
Swiss-Prot	VAR_063594	Disease	p.ASN456ASP	Muscular dystrophy congenital LMNA-related (MDCL)
Swiss-Prot	VAR_039781	Disease	p.ASN456ILE	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_009977	Disease	p.ASN195LYS	Cardiomyopathy, dilated 1A (CMD1A)
Swiss-Prot	VAR_039782	Disease	p.ASN456LYS	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_063588	Disease	p.ASN39SER	Muscular dystrophy congenital LMNA-related (MDCL)
Swiss-Prot	VAR_039770	Disease	p.ASP230ASN	Lipodystrophy, familial partial, 2 (FPLD2)
Swiss-Prot	VAR_039765	Disease	p.ASP192GLY	Cardiomyopathy, dilated 1A (CMD1A)
Swiss-Prot	VAR_070178	Polymorphism	p.ASP300GLY	N/A
Swiss-Prot	VAR_064973	Disease	p.ASP461TYR	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_039780	Disease	p.ASP446VAL	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_009982	Disease	p.GLN294PRO	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_039750	Polymorphism	p.GLU33ASP	N/A
Swiss-Prot	VAR_009978	Disease	p.GLU203GLY	Cardiomyopathy, dilated 1A (CMD1A)
Swiss-Prot	VAR_039751	Disease	p.GLU33GLY	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_039757	Disease	p.GLU65GLY	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_070175	Disease	p.GLU138LYS	Hutchinson-Gilford progeria syndrome (HGPS)
Swiss-Prot	VAR_017659	Disease	p.GLU145LYS	Hutchinson-Gilford progeria syndrome (HGPS)
Swiss-Prot	VAR_017660	Disease	p.GLU161LYS	Cardiomyopathy, dilated 1A (CMD1A)
Swiss-Prot	VAR_039767	Disease	p.GLU203LYS	Cardiomyopathy, dilated 1A (CMD1A)
Swiss-Prot	VAR_039775	Disease	p.GLU317LYS	Cardiomyopathy, dilated 1A (CMD1A)
Swiss-Prot	VAR_009985	Disease	p.GLU358LYS	Muscular dystrophy congenital LMNA-related (MDCL)
Swiss-Prot	VAR_064970	Disease	p.GLU361LYS	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_039790	Polymorphism	p.GLU578VAL	N/A
Swiss-Prot	VAR_067258	Disease	p.GLY523ARG	Cardiomyopathy, dilated 1A (CMD1A)
Swiss-Prot	VAR_064971	Disease	p.GLY449ASP	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_009989	Disease	p.GLY465ASP	Lipodystrophy, familial partial, 2 (FPLD2)
Swiss-Prot	VAR_039771	Disease	p.GLY232GLU	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_064976	Disease	p.GLY602SER	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_017664	Disease	p.GLY608SER	Hutchinson-Gilford progeria syndrome (HGPS)
Swiss-Prot	VAR_039769	Disease	p.HIS222PRO	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_009979	Disease	p.HIS222TYR	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_039756	Disease	p.ILE63ASN	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_070177	Disease	p.ILE210SER	Cardiomyopathy, dilated 1A (CMD1A)
Swiss-Prot	VAR_009974	Disease	p.ILE63SER	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_009990	Disease	p.ILE469THR	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_017658	Disease	p.LEU140ARG	Hutchinson-Gilford progeria syndrome (HGPS)
Swiss-Prot	VAR_064055	Disease	p.LEU59ARG	Cardiomyopathy, dilated, with hypergonadotropic hypogonadism (CMDHH)
dbSNP	rs28933090	Disease	p.LEU85ARG	Cardiomyopathy, dilated 1A (CMD1A)
Swiss-Prot	VAR_067257	Disease	p.LEU92PHE	Cardiomyopathy, dilated 1A (CMD1A)
Swiss-Prot	VAR_039760	Disease	p.LEU140PRO	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_039768	Disease	p.LEU215PRO	Cardiomyopathy, dilated 1A (CMD1A)
Swiss-Prot	VAR_039772	Disease	p.LEU248PRO	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_064966	Disease	p.LEU271PRO	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_063590	Disease	p.LEU302PRO	Muscular dystrophy congenital LMNA-related (MDCL)
Swiss-Prot	VAR_064972	Disease	p.LEU454PRO	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_009997	Disease	p.LEU530PRO	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_063591	Disease	p.LEU380SER	Muscular dystrophy congenital LMNA-related (MDCL)
Swiss-Prot	VAR_039752	Disease	p.LEU35VAL	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_039773	Polymorphism	p.LYS260ASN	N/A
Swiss-Prot	VAR_009994	Disease	p.LYS486ASN	Lipodystrophy, familial partial, 2 (FPLD2)
Swiss-Prot	VAR_034710	Disease	p.LYS542ASN	Hutchinson-Gilford progeria syndrome (HGPS)
Swiss-Prot	VAR_039759	Disease	p.LYS97GLU	Cardiomyopathy, dilated 1A (CMD1A)
Swiss-Prot	VAR_009986	Disease	p.MET371LYS	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_064964	Disease	p.PHE206LEU	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_039789	Disease	p.SER573LEU	Mandibuloacral dysplasia with type A lipodystrophy (MADA)
Swiss-Prot	VAR_034707	Disease	p.SER143PHE	Hutchinson-Gilford progeria syndrome (HGPS)
Swiss-Prot	VAR_039761	Disease	p.SER143PRO	Cardiomyopathy, dilated 1A (CMD1A)
Swiss-Prot	VAR_064965	Disease	p.SER268PRO	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_064967	Disease	p.SER295PRO	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_064968	Disease	p.SER303PRO	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_039785	Disease	p.THR528ARG	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_039745	Polymorphism	p.THR10ILE	N/A
Swiss-Prot	VAR_009996	Disease	p.THR528LYS	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_039762	Disease	p.THR150PRO	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_064974	Disease	p.TRP467ARG	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_039784	Disease	p.TRP520SER	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_039774	Disease	p.TYR267CYS	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_009971	Disease	p.TYR45CYS	Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-Prot	VAR_039783	Disease	p.TYR481HIS	Limb-girdle muscular dystrophy 1B (LGMD1B)
OMIM	150330.0030	Disease	p.ALA57PRO	CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTRIPIC HYPOGONADISM
OMIM	150330.0046	Disease	p.ALA529THR	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
OMIM	150330.0037	Disease	p.ALA529VAL	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
OMIM	150330.0020	Disease	p.ARG298CYS	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1
OMIM	150330.0043	Disease	p.ARG399CYS	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM	150330.0025	Disease	p.ARG471CYS	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL
OMIM	150330.0026	Disease	p.ARG527CYS	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
OMIM	150330.0051	Disease	p.ARG644CYS	VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	150330.0010	Disease	p.ARG482GLN	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM	150330.0053	Disease	p.ARG541GLY	CARDIOMYOPATHY, DILATED, 1A
OMIM	150330.0005	Disease	p.ARG60GLY	CARDIOMYOPATHY, DILATED, 1A\|\|LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, INCLUDED
OMIM	150330.0017	Disease	p.ARG377HIS	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B\|\|CARDIOMYOPATHY, DILATED, 1A, INCLUDED
OMIM	150330.0021	Disease	p.ARG527HIS	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY\|\|MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUD
OMIM	150330.0016	Disease	p.ARG582HIS	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM	150330.0027	Disease	p.ARG133LEU	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2\|\|HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET, INCLUDED
OMIM	150330.0012	Disease	p.ARG482LEU	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM	150330.0032	Disease	p.ARG133PRO	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
OMIM	150330.0003	Disease	p.ARG527PRO	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT\|\|LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, INCLUDED
OMIM	150330.0009	Disease	p.ARG571SER	CARDIOMYOPATHY, DILATED, 1A
OMIM	150330.0048	Disease	p.ARG249TRP	MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
OMIM	150330.0002	Disease	p.ARG453TRP	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
OMIM	150330.0011	Disease	p.ARG482TRP	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM	150330.0007	Disease	p.ASN195LYS	CARDIOMYOPATHY, DILATED, 1A
OMIM	150330.0042	Disease	p.ASP230ASN	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM	150330.0038	Disease	p.GLN493TER	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B
OMIM	150330.0001	Disease	p.GLN6TER	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
OMIM	150330.0008	Disease	p.GLU203GLY	CARDIOMYOPATHY, DILATED, 1A
OMIM	150330.0024	Disease	p.GLU145LYS	HUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL
OMIM	150330.0028	Disease	p.GLU161LYS	CARDIOMYOPATHY, DILATED, 1A
OMIM	150330.0049	Disease	p.GLU358LYS	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT\|\|MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED, INCLUDED;;\|\|MUSCULA
OMIM	150330.0015	Disease	p.GLY465ASP	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM	150330.0022	Disease	p.GLY608GLY	HUTCHINSON-GILFORD PROGERIA SYNDROME\|\|RESTRICTIVE DERMOPATHY, LETHAL, INCLUDED
OMIM	150330.0023	Disease	p.GLY608SER	HUTCHINSON-GILFORD PROGERIA SYNDROME
OMIM	150330.0014	Disease	p.HIS222TYR	EMERY-DREIFUSS MUSCULAR DYSTROPHY, ATYPICAL, AUTOSOMAL RECESSIVE
OMIM	150330.0031	Disease	p.LEU140ARG	HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET
OMIM	150330.0052	Disease	p.LEU59ARG	CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTRIPIC HYPOGONADISM
OMIM	150330.0006	Disease	p.LEU85ARG	CARDIOMYOPATHY, DILATED, 1A
OMIM	150330.0004	Disease	p.LEU530PRO	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
OMIM	150330.0047	Disease	p.LEU380SER	MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
OMIM	150330.0033	Disease	p.LYS542ASN	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
OMIM	150330.0041	Disease	p.SER573LEU	CARDIOMYOPATHY, DILATED, 1A\|\|MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUDED;;\|\|LIPODYSTROPHY, FA
OMIM	150330.0034	Disease	p.SER143PHE	MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
OMIM	150330.0035	Disease	p.TYR259TER	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B
OMIM	150330.0044	Disease	p.VAL440MET	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL
OMIM	150330.0040	Disease	p.VAL607VAL	HUTCHINSON-GILFORD PROGERIA SYNDROME

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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