Mutations

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ToggleEditMutation = 'c.1816delA'

Mutation

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	1816	c.1816delA	p.Thr606Profs*18	Deletion	Exon 14	3	3

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c.1816delA, p.Thr606Profs*18

The sequence variant c.1816delA in exon 14 changes the reading frame, and is, if expressed, expected to result in a truncated, non-functional protein (p.Thr606ProfsX18).

Mutation Details

Mutation type

Deletion

Localization

Exon 14

Number of Patients

Detected

References

Berg et al. 1999

Patients w/ c.1816delA / p.Thr606Profs*18

1-3

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
13	***	Germany	***	Type 2	c.1816delA	p.Thr606Profs*18	c.1830+1G>C	p.Val549_Glu610del	Yes	***
171	***	Germany	***	Type 2	c.1816delA	p.Thr606Profs*18	c.1830+1G>C	p.Val549_Glu610del	Yes	***
172	***	Germany	***		c.1816delA	p.Thr606Profs*18	c.1830+1G>C	p.Val549_Glu610del		***

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Primary Mutation Type Distribution