Mutations

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ToggleEditMutation = 'c.2900_2901dupGG'

Mutation

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	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	2900	c.2900_2901dupGG	p.Leu968Glyfs*66	Duplication	Exon 23	2	2

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c.2900_2901dupGG, p.Leu968Glyfs*66

The sequence variant c.2900_2901dupGG in exon 23 changes the reading frame, and is, if expressed, expected to result in a truncated, non-functional protein (p.Leu968GlyfsX66).

Mutation Details

Mutation type

Duplication

Localization

Exon 23

Number of Patients

Detected

References

Castelnovo et al. 2007

Patients w/ c.2900_2901dupGG / p.Leu968Glyfs*66

1-2

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
132	***	France	***	Pseudo?	c.1259G>T	p.Gly420Val	c.2900_2901dupGG	p.Leu968Glyfs*66		***
142	***	France	***	Asymptomat	c.1259G>T	p.Gly420Val	c.2900_2901dupGG	p.Leu968Glyfs*66		***

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Primary Mutation Type Distribution