Mutations

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ToggleEditProtein contains 'p.Gln790*'

Protein

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	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	2368	c.2368C>T	p.Gln790*	Nonsense	Exon 20	2	4

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c.2368C>T, p.Gln790*

The sequence variant c.2368C>T in exon 20 introduces a premature stop codon, and is, if expressed, expected to result in a truncated, non-functional protein (p.Gln790*).

Mutation Details

Mutation type

Nonsense

Localization

Exon 20

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.2368C>T / p.Gln790*

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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
231	***	United Arab Emirates	***	Type 2	c.2368C>T	p.Gln790*	c.2368C>T	p.Gln790*		***

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Primary Mutation Type Distribution