Results for the protein: NP

Results for the Protein: NP_001244303

383792150

4000

LMNA

NCBI

lamin isoform D [Homo sapiens]

Known Diseases associated with this Protein:
  CARDIOMYOPATHY, DILATED, 1A
  CARDIOMYOPATHY, DILATED, 1A, INCLUDED
  CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1
  EMERY-DREIFUSS MUSCULAR DYSTROPHY, ATYPICAL, AUTOSOMAL RECESSIVE
  EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
  HUTCHINSON-GILFORD PROGERIA SYNDROME
  HUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL
  HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET
  HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET, INCLUDED
  LIPODYSTROPHY, FA
  LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
  LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, INCLUDED
  MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
  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
  MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED, INCLUDED;;
  MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B
  RESTRICTIVE DERMOPATHY, LETHAL, INCLUDED
  VARIANT OF UNKNOWN SIGNIFICANCE

40

0

40

0

0

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: Filament - pfam00038 LTD - pfam00932	RefSeq Protein: NP_001244303 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
LTD	pfam00932	1.2e-61	320	428

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	150330.0046	Disease	p.ALA417THR	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
OMIM	150330.0037	Disease	p.ALA417VAL	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
OMIM	150330.0020	Disease	p.ARG186CYS	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1
OMIM	150330.0043	Disease	p.ARG287CYS	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM	150330.0025	Disease	p.ARG359CYS	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL
OMIM	150330.0026	Disease	p.ARG415CYS	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
OMIM	150330.0051	Disease	p.ARG532CYS	VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	150330.0010	Disease	p.ARG370GLN	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM	150330.0053	Disease	p.ARG429GLY	CARDIOMYOPATHY, DILATED, 1A
OMIM	150330.0017	Disease	p.ARG265HIS	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B\|\|CARDIOMYOPATHY, DILATED, 1A, INCLUDED
OMIM	150330.0021	Disease	p.ARG415HIS	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY\|\|MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUD
OMIM	150330.0016	Disease	p.ARG470HIS	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM	150330.0027	Disease	p.ARG21LEU	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2\|\|HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET, INCLUDED
OMIM	150330.0012	Disease	p.ARG370LEU	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM	150330.0032	Disease	p.ARG21PRO	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
OMIM	150330.0003	Disease	p.ARG415PRO	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT\|\|LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, INCLUDED
OMIM	150330.0009	Disease	p.ARG459SER	CARDIOMYOPATHY, DILATED, 1A
OMIM	150330.0048	Disease	p.ARG137TRP	MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
OMIM	150330.0002	Disease	p.ARG341TRP	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
OMIM	150330.0011	Disease	p.ARG370TRP	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM	150330.0007	Disease	p.ASN83LYS	CARDIOMYOPATHY, DILATED, 1A
OMIM	150330.0042	Disease	p.ASP118ASN	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM	150330.0038	Disease	p.GLN381TER	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B
OMIM	150330.0008	Disease	p.GLU91GLY	CARDIOMYOPATHY, DILATED, 1A
OMIM	150330.0049	Disease	p.GLU246LYS	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT\|\|MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED, INCLUDED;;\|\|MUSCULA
OMIM	150330.0024	Disease	p.GLU33LYS	HUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL
OMIM	150330.0028	Disease	p.GLU49LYS	CARDIOMYOPATHY, DILATED, 1A
OMIM	150330.0015	Disease	p.GLY353ASP	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM	150330.0022	Disease	p.GLY496GLY	HUTCHINSON-GILFORD PROGERIA SYNDROME\|\|RESTRICTIVE DERMOPATHY, LETHAL, INCLUDED
OMIM	150330.0023	Disease	p.GLY496SER	HUTCHINSON-GILFORD PROGERIA SYNDROME
OMIM	150330.0014	Disease	p.HIS110TYR	EMERY-DREIFUSS MUSCULAR DYSTROPHY, ATYPICAL, AUTOSOMAL RECESSIVE
OMIM	150330.0031	Disease	p.LEU28ARG	HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET
OMIM	150330.0004	Disease	p.LEU418PRO	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
OMIM	150330.0047	Disease	p.LEU268SER	MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
OMIM	150330.0033	Disease	p.LYS430ASN	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
OMIM	150330.0041	Disease	p.SER461LEU	CARDIOMYOPATHY, DILATED, 1A\|\|MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUDED;;\|\|LIPODYSTROPHY, FA
OMIM	150330.0034	Disease	p.SER31PHE	MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
OMIM	150330.0035	Disease	p.TYR147TER	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B
OMIM	150330.0044	Disease	p.VAL328MET	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL
OMIM	150330.0040	Disease	p.VAL495VAL	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.

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