PCCA MUTATIONS

Nucleotide Change in			Effect on coding region		Gain/loss restr. site	# of alleles	Patients’ Origin	References
DNA	cDNA
	Old	New	Old	New
IN2		IVS2-17del TG	Abnormal Splicing			1	Italy	Perez et al (2003)
Ex3	148G>C	223G>C	A50P	A75P	Apo I +	1	USA	Campeau et al (1999b)
Ex3	154C>T	229C>T	R52W	R77W	Aval -	2	Spain, Japan	Ohura et al (1999b) Richard et al (1999)
IN3		IVS3+44del4	Abnormal Splicing			1	Italy	Perez et al (2003)
IN4		IVS4+1G>A	Abnormal Splicing					Desviat et al (2001)
Ex5	337G>A	412G>A	A113T	A138T	Alu I +	1	Spain	Richard et al (1999)
Ex5				S122fs				Desviat et al (2001)
Ex6		419del A	Fs and stop codon			1	USA	Perez et al (2003)
Ex6	440del C			Fs				Campeau et al (2001)
Ex7	416T>C	491T>C	I139T	I164T	Bsr I +	2	Spain	Richard et al (1999)
Ex7		590G>A		G197E		1	Japan	Yang et al (2004)
Ex9	611T>C	686T>C	M204K	M229K	Nla III -	1	USA	Campeau et al (1999a, 1999b)
Ex9		721-722delG	Fs and stop codon			1	USA	Perez et al (2003)
Ex10	700del 5	775del 5	Fs and stop codon		Dde I +	1	USA	Campeau et al (1999a)
Ex11	815A>G	890A>G	Q272R	Q297R		1	Japan	Ohura et al (1999b)
Ex12		917-923insT	Fs and stop codon			1	USA (Black+Japanese)	Perez et al (2003)
Ex12		923-924insT	Frame shift			9	Japan	Yang et al (2004)
Ex12	862C>T	937C>T	R288X	R313X	Hinf I -	3	Canada, USA, Spain	Campeau et al (1999a)
Ex12			Y304X	Y329X				Heptinstall et al (1998)
Ex13	1028A>G	1103A>G	D343G	D368G	Ava II -	1	France	Schlenzig et al (1995), Campeau et al (1999b)
Ex13		1096-1097insG	Fs and stop codon			1	Croatia	Perez et al (2003)
Ex13	1043T>A	1118T>A	M348K	M373K	BstY I +	2	Austria	Richard et al (1999)
Ex13		1134-1136delG	Fs and stop codon			2	Spain	Perez et al (2003)
Ex13	1061G>T	1136G>T	G354V	G379V	Acc I +	1	USA	Campeau et al (1999b)
Ex13		1192T>C	C398R			1	Japan	Yang et al (2004)
Ex13	1115del 4	1190del 4	Fs and stop codon			2	France	Campeau et al (1999a)
Ex13	1121G>A	1196G>A	R374Q	R399Q		2	Japan	Ohura et al (1999b)
Ex14	1193C>T	1268C>T	P398L	P423L		1	Japan	Ohura et al (1999b)
IN14		IVS14+1G>A	Skipping Ex 13 and Ex 14					Campeau et al (2001)
IN14	1209ins 84	1284ins 84	2 stop codons					Campeau et al (1999a), Ohura et al (1999a)
IN17	1465IVS+1G>A	IVS17+1G>A	Skipping intron 17			1	Japan	Ohura et al (1999b)
Ex18		1593delATT	Fs and stop codon			1	USA	Perez et al (2003)
Ex18			del L507	del L532				Heptinstall et al (1998)
IN18		IVS18+1G>A	Skipping exon 18			2	Japan	Yang et al (2004)
IN18		IVS18-6C>G	Skipping exon 19			3	Japan	Yang et al (2004)
Ex 19		1651G>T		V551F	Msp -		Belgium (Arad)	Perez  et al (2003)
Ex19	1601G>T	1676G>T	W534L	W559L		2	Japan	Ohura et al (1999b)
Ex19	1610C>G	1685C>G	S537X	S562X		2	Japan	Richard et al (1999)
Ex19		1746G>A	Skipping exon 19			1	Japan	Yang et al (2004)
IN19	1671IVS+5G>C	IVS19+5G>C	Skipping intron 19		Maelll +	4	USA	Campeau et al (1999a)
IN20	1771IVS-2del 9	IVS20-2del 9	Skipping intron 21			1	Spain	Richard et al (1997)
Ex21	1816G>C	1891G>C	G606R	G631R	Ava II -	2	Spain	Richard et al (1999)
IN21	1824IVS+3del 4	IVS21+3del 4	Skipping intron 21			2	Spain	Richard et al (1997)
IN21	1824IVS+3ins CT	IVS21+3ins CT	Skipping intron 21			2	Spain	Richard et al (1997)
EX22			M641K	M666K				Heptinstall et al (1998)
EX22	1927G>T	2002G>T	G643R	G668R	BssKI -	1		Raby et al (1994), Campeau et al (1999b)
Ex22				A676fs				Desviat et al (2001)
IN22		IVS22-2A>G	Abnormal Splicing			1	USA (german/austrian)	Perez et al (2003)
EX23		2103del T	fs and stop codon					Campeau et al (2001)
EX24	2058del 3	2133del 3	del C687	del C712	BsiHKAI -	1	unknown	Campeau et al (1999b)
	Polymorphisms
Ex8	552A>G	627A>G	A184A	A209A			Spain	Richard et al (1999)
Ex16	1348A>G	1423A>G	I450V	I475V	Rsal +		Spain	Richard et al (1999)

ACRS(Amplification created restriction site)

 

PCC pages are maintained by Jan P. Kraus and Hua Jiang with technical assistance by Mirek Janosik.

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