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Results for the Protein: NP_001244303
383792150

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
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Default View:

Filament - pfam00038
LTD - pfam00932




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Filamentpfam000383.8e-721274
LTDpfam009321.2e-61320428

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM150330.0046 Diseasep.ALA417THRMANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
OMIM150330.0037 Diseasep.ALA417VALMANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
OMIM150330.0020 Diseasep.ARG186CYSCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1
OMIM150330.0043 Diseasep.ARG287CYSLIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM150330.0025 Diseasep.ARG359CYSMANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL
OMIM150330.0026 Diseasep.ARG415CYSMANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
OMIM150330.0051 Diseasep.ARG532CYSVARIANT OF UNKNOWN SIGNIFICANCE
OMIM150330.0010 Diseasep.ARG370GLNLIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM150330.0053 Diseasep.ARG429GLYCARDIOMYOPATHY, DILATED, 1A
OMIM150330.0017 Diseasep.ARG265HISMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B||CARDIOMYOPATHY, DILATED, 1A, INCLUDED
OMIM150330.0021 Diseasep.ARG415HISMANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY||MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUD
OMIM150330.0016 Diseasep.ARG470HISLIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM150330.0027 Diseasep.ARG21LEULIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2||HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET, INCLUDED
OMIM150330.0012 Diseasep.ARG370LEULIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM150330.0032 Diseasep.ARG21PROEMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
OMIM150330.0003 Diseasep.ARG415PROEMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT||LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, INCLUDED
OMIM150330.0009 Diseasep.ARG459SERCARDIOMYOPATHY, DILATED, 1A
OMIM150330.0048 Diseasep.ARG137TRPMUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
OMIM150330.0002 Diseasep.ARG341TRPEMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
OMIM150330.0011 Diseasep.ARG370TRPLIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM150330.0007 Diseasep.ASN83LYSCARDIOMYOPATHY, DILATED, 1A
OMIM150330.0042 Diseasep.ASP118ASNLIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM150330.0038 Diseasep.GLN381TERMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B
OMIM150330.0008 Diseasep.GLU91GLYCARDIOMYOPATHY, DILATED, 1A
OMIM150330.0049 Diseasep.GLU246LYSEMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT||MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED, INCLUDED;;||MUSCULA
OMIM150330.0024 Diseasep.GLU33LYSHUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL
OMIM150330.0028 Diseasep.GLU49LYSCARDIOMYOPATHY, DILATED, 1A
OMIM150330.0015 Diseasep.GLY353ASPLIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM150330.0022 Diseasep.GLY496GLYHUTCHINSON-GILFORD PROGERIA SYNDROME||RESTRICTIVE DERMOPATHY, LETHAL, INCLUDED
OMIM150330.0023 Diseasep.GLY496SERHUTCHINSON-GILFORD PROGERIA SYNDROME
OMIM150330.0014 Diseasep.HIS110TYREMERY-DREIFUSS MUSCULAR DYSTROPHY, ATYPICAL, AUTOSOMAL RECESSIVE
OMIM150330.0031 Diseasep.LEU28ARGHUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET
OMIM150330.0004 Diseasep.LEU418PROEMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
OMIM150330.0047 Diseasep.LEU268SERMUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
OMIM150330.0033 Diseasep.LYS430ASNMANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
OMIM150330.0041 Diseasep.SER461LEUCARDIOMYOPATHY, DILATED, 1A||MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUDED;;||LIPODYSTROPHY, FA
OMIM150330.0034 Diseasep.SER31PHEMUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
OMIM150330.0035 Diseasep.TYR147TERMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B
OMIM150330.0044 Diseasep.VAL328METMANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL
OMIM150330.0040 Diseasep.VAL495VALHUTCHINSON-GILFORD PROGERIA SYNDROME



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