Mutations

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ToggleEditMutation = 'c.1383C>G'

Mutation

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	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	1383	c.1383C>G	p.Tyr461*	Nonsense	Exon 11	1	2

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c.1383C>G, p.Tyr461*

The sequence variant c.1383C>G in exon 11 introduces a premature stop codon, and is, if expressed, expected to result in a truncated, non-functional protein (p.Tyr461X).

Mutation Details

Mutation type

Nonsense

Localization

Exon 11

Number of Patients

Detected

References

Lyons et al. 2007

Patients w/ c.1383C>G / p.Tyr461*

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PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
146	***	Honduras	***	Type 2	c.1383C>G	p.Tyr461*	c.1383C>G	p.Tyr461*		***

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Primary Mutation Type Distribution