Mutations

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ToggleEditProtein contains 'p.Gln850Argfs*74'

Protein

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	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	2548	c.2548delC	p.Gln850Argfs*74	Deletion	Exon 21	2	4

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c.2548delC, p.Gln850Argfs*74

The sequence variant c.2548delC in exon 21 changes the reading frame, and is, if expressed, expected to result in a truncated, non-functional protein (p.Gln850ArgfsX74).

Mutation Details

Mutation type

Deletion

Localization

Exon 21

Number of Patients

Detected

References

Urushihara et al. 2004

Patients w/ c.2548delC / p.Gln850Argfs*74

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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
106	***	Japan	***	Type 2	c.2548delC	p.Gln850Argfs*74	c.2548delC	p.Gln850Argfs*74	Yes	***
109	***	Japan	***	Type 2	c.2548delC	p.Gln850Argfs*74	c.2548delC	p.Gln850Argfs*74	Yes	***

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Primary Mutation Type Distribution