Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Mutations in SPTLC1

Name c.397T>C
Alias Cys133Arg
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TGT to CGT
Phenotype HSN I
htz/hmz htz
Family History -

Rautenstrauss et al., 2009
References

Genomic cDNA Protein
Observed c.397T>C
Deduced c.397T>C C133R
Region EX5 CDS
Date Added: 14-Feb-11 ID: 942

Name c.398G>A
Alias Cys133Tyr
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TGT to TAT
Phenotype HSN I
htz/hmz htz
Family History -

Bejaoui et al., 2001
Dawkins et al., 2001
Geraldes et al., 2004
References

Genomic cDNA Protein
Observed c.398G>A c.398G>A
Deduced C133Y
Region EX5 CDS IC
Date Added: 28-Jun-01 ID: 509

Name c.399T>G
Alias Cys133Trp
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TGT to TGG
Phenotype HSN I
htz/hmz htz
Family History -

Bejaoui et al., 2001
Dawkins et al., 2001
Klein et al., 2005
Houlden et al., 2006
Bi et al., 2007
References

Genomic cDNA Protein
Observed c.399T>G
Deduced c.399T>G C133W
Region EX5 CDS
Date Added: 28-Jun-01 ID: 510

Name c.431T>A
Alias Val144Asp
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GTT to GAT
Phenotype HSN I
htz/hmz htz
Family History -

Dawkins et al., 2001
References

Genomic cDNA Protein
Observed c.431T>A c.431T>A
Deduced V144D
Region EX6 CDS
Date Added: 28-Jun-01 ID: 511

Name c.452G>T
Alias Arg151Leu
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGC to CTC
Phenotype - (polymorphism)
htz/hmz htz
Family History -

Nicholson et al., 2006
References

Genomic cDNA Protein
Observed c.452G>T
Deduced c.452G>T R151L
Region EX6 CDS
Date Added: 22-Dec-06 ID: 838

Name c.992C>T
Alias Ser331Phe
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TCC to TTC
Phenotype HSN I
htz/hmz htz
Family History de novo

Rotthier et al., 2009
References

Genomic cDNA Protein
Observed c.992C>T
Deduced c.992C>T S331F
Region EX11 CDS
Date Added: 14-Feb-11 ID: 940

Name c.1160G>C
Alias Gly387Ala
Description - (polymorphism)
Codon Change From to
Phenotype - (polymorphism)
htz/hmz htz
Family History familial

Verhoeven et al., 2004
References

Genomic cDNA Protein
Observed c.1160G>C
Deduced c.1160G>C G387A
Region EX13 CDS
Date Added: 14-Feb-11 ID: 675



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