Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Mutations in HSPB1

Name c.379C>T
Alias Arg127Trp
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGG to TGG
Phenotype dHMN CMT2
htz/hmz htz
Family History D

Evgrafov et al., 2004
Tang et al., 2005
References

Genomic cDNA Protein
Observed c.379C>T
Deduced c.379C>T R127W
Region EX2 CDS Hsp20-alpha-crystallin
Date Added: 03-May-04 ID: 400

Name c.404C>T
Alias Ser135Phe
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TCC to TTC
Phenotype CMT2 / dHMN
htz/hmz htz
Family History AD

Evgrafov et al., 2004
References

Genomic cDNA Protein
Observed c.404C>T
Deduced c.404C>T S135F
Region EX2 CDS Hsp20-alpha-crystallin
Date Added: 03-May-04 ID: 401

Name c.406C>T
Alias Arg136Trp
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGG to TGG
Phenotype CMT2
htz/hmz htz
Family History isolated

Evgrafov et al., 2004
References

Genomic cDNA Protein
Observed c.406C>T
Deduced c.406C>T R136W
Region EX2 CDS Hsp20-alpha-crystallin
Date Added: 03-May-04 ID: 402

Name c.452C>T
Alias Thr151Ile
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ACC to ATC
Phenotype dHMN
htz/hmz htz
Family History AD

Evgrafov et al., 2004
References

Genomic cDNA Protein
Observed c.452C>T
Deduced c.452C>T T151I
Region EX3 CDS Hsp20-alpha-crystallin
Date Added: 03-May-04 ID: 403

Name c.544C>T
Alias Pro182Ser
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CCA to TCA
Phenotype dHMN
htz/hmz htz
Family History de novo

Kijima et al., 2005
References

Genomic cDNA Protein
Observed c.544C>T
Deduced c.544C>T P182S
Region EX3 CDS
Date Added: 09-Mar-07 ID: 847

Name c.545C>T
Alias Pro182Leu
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CCA to CTA
Phenotype dHMN
htz/hmz htz
Family History AD

Evgrafov et al., 2004
References

Genomic cDNA Protein
Observed c.545C>T
Deduced c.545C>T P182L
Region EX3 CDS
Date Added: 03-May-04 ID: 404



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