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Results for the Protein: NP_005563
5031875

lamin isoform C [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, ATYPICAL
  HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET
  HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET, INCLUDED
  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
  MUSCULA
  MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
  MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED, INCLUDED;;
  MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B
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Default View:

Filament - pfam00038
LTD - pfam00932


RefSeq Protein: NP_005563
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Filamentpfam000388.8e-15130386
LTDpfam009321.2e-61432540

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs28933090 Polymorphismp.LEU85ARGN/A
OMIM150330.0030 Diseasep.ALA57PROCARDIOMYOPATHY, DILATED, WITH HYPERGONADOTRIPIC HYPOGONADISM
OMIM150330.0046 Diseasep.ALA529THRMANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
OMIM150330.0037 Diseasep.ALA529VALMANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
OMIM150330.0020 Diseasep.ARG298CYSCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1
OMIM150330.0043 Diseasep.ARG399CYSLIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM150330.0025 Diseasep.ARG471CYSMANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL
OMIM150330.0026 Diseasep.ARG527CYSMANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
OMIM150330.0010 Diseasep.ARG482GLNLIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM150330.0053 Diseasep.ARG541GLYCARDIOMYOPATHY, DILATED, 1A
OMIM150330.0005 Diseasep.ARG60GLYCARDIOMYOPATHY, DILATED, 1A||LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, INCLUDED
OMIM150330.0017 Diseasep.ARG377HISMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B||CARDIOMYOPATHY, DILATED, 1A, INCLUDED
OMIM150330.0021 Diseasep.ARG527HISMANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY||MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUD
OMIM150330.0027 Diseasep.ARG133LEULIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2||HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET, INCLUDED
OMIM150330.0012 Diseasep.ARG482LEULIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM150330.0032 Diseasep.ARG133PROEMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
OMIM150330.0003 Diseasep.ARG527PROEMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT||LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, INCLUDED
OMIM150330.0048 Diseasep.ARG249TRPMUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
OMIM150330.0002 Diseasep.ARG453TRPEMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
OMIM150330.0011 Diseasep.ARG482TRPLIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM150330.0007 Diseasep.ASN195LYSCARDIOMYOPATHY, DILATED, 1A
OMIM150330.0042 Diseasep.ASP230ASNLIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM150330.0038 Diseasep.GLN493TERMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B
OMIM150330.0001 Diseasep.GLN6TEREMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
OMIM150330.0008 Diseasep.GLU203GLYCARDIOMYOPATHY, DILATED, 1A
OMIM150330.0024 Diseasep.GLU145LYSHUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL
OMIM150330.0028 Diseasep.GLU161LYSCARDIOMYOPATHY, DILATED, 1A
OMIM150330.0049 Diseasep.GLU358LYSEMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT||MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED, INCLUDED;;||MUSCULA
OMIM150330.0015 Diseasep.GLY465ASPLIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM150330.0014 Diseasep.HIS222TYREMERY-DREIFUSS MUSCULAR DYSTROPHY, ATYPICAL, AUTOSOMAL RECESSIVE
OMIM150330.0031 Diseasep.LEU140ARGHUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET
OMIM150330.0052 Diseasep.LEU59ARGCARDIOMYOPATHY, DILATED, WITH HYPERGONADOTRIPIC HYPOGONADISM
OMIM150330.0006 Diseasep.LEU85ARGCARDIOMYOPATHY, DILATED, 1A
OMIM150330.0004 Diseasep.LEU530PROEMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
OMIM150330.0047 Diseasep.LEU380SERMUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
OMIM150330.0033 Diseasep.LYS542ASNMANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
OMIM150330.0034 Diseasep.SER143PHEMUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
OMIM150330.0035 Diseasep.TYR259TERMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B
OMIM150330.0044 Diseasep.VAL440METMANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL



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