Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Mutations in GARS

Name c.170C>T
Alias Ala57Val
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GCG to GTG
Phenotype dHMN V + ptosis
htz/hmz htz
Family History isolated

Rohkamm et al., 2007
References

Genomic cDNA Protein
Observed c.170C>T
Deduced c.170C>T A57V
Region EX3 CDS
Date Added: 29-Nov-07 ID: 920

Name c.212A>G
Alias Glu71Gly
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAA to GGA
Phenotype CMT2 / dHMN V
htz/hmz htz
Family History AD

Antonellis et al., 2003
References

Genomic cDNA Protein
Observed c.212A>G
Deduced c.212A>G E71G
Region EX3 CDS
Date Added: 25-Apr-03 ID: 655

Name c.385C>T
Alias Leu129Pro
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CTC to TTC
Phenotype dHMN V
htz/hmz htz
Family History AD

Antonellis et al., 2003
References

Genomic cDNA Protein
Observed c.385C>T
Deduced c.385C>T L129P
Region EX4 CDS catalytic
Date Added: 25-Apr-03 ID: 656

Name c.718G>C
Alias Gly240Arg
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GGG to CGG
Phenotype CMT2
htz/hmz htz
Family History AD

Antonellis et al., 2003
References

Genomic cDNA Protein
Observed c.718G>C
Deduced c.718G>C G240R
Region EX7 CDS
Date Added: 25-Apr-03 ID: 657

Name c.838A>T
Alias Ile280Phe
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ATC to TTC
Phenotype dHMN V
htz/hmz htz
Family History AD

James et al., 2006
References

Genomic cDNA Protein
Observed c.838A>T
Deduced c.838A>T I280F
Region EX8 CDS
Date Added: 12-Dec-06 ID: 829

Name c.1253A>G
Alias His418Arg
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CAT to CGT
Phenotype dHMN V
htz/hmz htz
Family History familial

Sivakumar et al., 2005
References

Genomic cDNA Protein
Observed c.1253A>G
Deduced c.1253A>G H418R
Region EX11 CDS
Date Added: 12-Dec-06 ID: 825

Name c.1498G>A
Alias Asp500Asn
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAC to AAC
Phenotype CMT2 / dHMN
htz/hmz htz
Family History AD

Del Bo et al., 2006
References

Genomic cDNA Protein
Observed c.1498G>A
Deduced c.1498G>A D500N
Region EX13 CDS
Date Added: 12-Dec-06 ID: 826

Name c.1576G>C
Alias Gly526Arg
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GGC to CGC
Phenotype dHMN V
htz/hmz htz
Family History AD

Antonellis et al., 2003
Dubourg et al., 2006
References

Genomic cDNA Protein
Observed c.1576G>C
Deduced c.1576G>C G526R
Region EX14 CDS
Date Added: 25-Apr-03 ID: 658

Name c.1742C>T
Alias Ser581Leu
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TCG to TTG
Phenotype CMT2
htz/hmz htz
Family History D

James et al., 2006
References

Genomic cDNA Protein
Observed c.1742C>T
Deduced c.1742C>T S581L
Region EX16 CDS
Date Added: 12-Dec-06 ID: 828

Name c.1791G>C
Alias Gly598Ala
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GGG to GCG
Phenotype infantile SMA
htz/hmz htz
Family History de novo

James et al., 2006
References

Genomic cDNA Protein
Observed c.1791G>C
Deduced c.1791G>C G598A
Region EX16 CDS anticodon binding
Date Added: 12-Dec-06 ID: 827



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