Mutations

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ToggleEditProtein contains 'p.Ala507Argfs*16'

Protein

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	1519	c.1519delG	p.Ala507Argfs*16	Deletion	Exon 12	1	2

1 - 1 of 1

c.1519delG, p.Ala507Argfs*16

The sequence variant c.1519delG in exon 12 changes the reading frame, and is, if expressed, expected to result in a truncated, non-functional protein (p.Ala507ArgfsX16).

Mutation Details

Mutation type

Deletion

Localization

Exon 12

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.1519delG / p.Ala507Argfs*16

1-1

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
77	***	France	***	Type 2	c.1519delG	p.Ala507Argfs*16	c.1519delG	p.Ala507Argfs*16		***

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Primary Mutation Type Distribution