Results for the protein: NP

Results for the Protein: NP_733822

27436948

4000

LMNA

NCBI

lamin isoform A delta10 [Homo sapiens]

Known Diseases associated with this Protein:
  CARDIOMYOPATHY, DILATED, 1A
  CARDIOMYOPATHY, DILATED, 1A, INCLUDED
  CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTRIPIC HYPOGONADISM
  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

43

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43

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Default View: Filament - pfam00038 LTD - pfam00932	RefSeq Protein: NP_733822 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
LTD	pfam00932	2.1e-56	432	538

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs28933090	Polymorphism	p.LEU85ARG	N/A
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.ARG614CYS	VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	150330.0010	Disease	p.ARG482GLN	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
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.ARG552HIS	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.ARG541SER	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.GLY578GLY	HUTCHINSON-GILFORD PROGERIA SYNDROME\|\|RESTRICTIVE DERMOPATHY, LETHAL, INCLUDED
OMIM	150330.0023	Disease	p.GLY578SER	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	150330.0041	Disease	p.SER543LEU	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.VAL577VAL	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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