Inherited Peripheral Neuropathies

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IPN Mutations

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last updated 17-Feb-11

Mutations in SPTLC1

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

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