PCCB MUTATIONS

Exon / Intron	Nucleotide Change in cDNA	Effect on coding region	Gain/loss restr. site	# of alleles	Patients’ Origin	References
Ex 1	31del10	Fs		1	Korean	Kim et al. 2002
Ex 1	49C>A	L17M	Rsal – (ACRS)	1	Spain	Muro et al. 1999
Ex 1	131G>C	R44P	Msp I -	1	Spain	Rodriguez-Pombo et al. 1998
Ex 2	210G>C	R67S	Msp I- (ACRS)	1	Spain	Perez et al 2003
Ex 2	280G>T	G94X	DraI +, (ACRS)			Perez et al 2003
IN 1	IVS1+3G>C	Presumed skipping ex1	Bsa I - (ACRS)	1	Spain	Rodriguez-Pombo et al. 1998
Ex 3	318C>A	S106R	Bst UI – (ACRS)?	1	Spain	Rodriguez-Pombo et al. 1998
Ex 3	319G>A	V107M	Nla III -	4	Croatia	Perez et al. 2003
Ex 3	335G>A	G112D	HaeIII-	1	USA, Italy	Rodriguez-Pombo et al. 1998 Perez et al.  2003
Ex 4	391G>C	G131R	Mnl  I -	1	Spain	Rodriguez-Pombo et al. 1998
Ex 4	418ins 12	Dup KICK 140		1	USA	Gravel et al.  1994
IN 4	IVS4+3del 4	Skipping ex4		2	Japan, USA	Ohura et al.  1993a Ohura et al.  1995 Rodriguez-Pombo et al. 2000
Ex 5	457G>C	A153P		4	Japan	Yang et al (2004)
Ex 5	493C>T	R165W	Nla III +	2	Ecuador, Japan	Ohura et al.  1993a Rodriguez-Pombo et al. 1998
Ex 5	494G>A	R165Q	Bam HI -	4	Spain	Perez et al.  2003
Ex 5	502G>A	E168K	Mbo II – (ACRS)	10	Chile, Spain	Rodriguez-Pombo et al. 1998
Ex 5		M178H			Chile, Spain	Heptinstall et al. 1998
IN 5	IVS5nt1G>A	Skipping ex5				Perez et al.  2003
Ex6	562G>A	G188R	Msp I -	2	Italy, USA	Perez et al.  2003
Ex 6	593G>A	G198D	Ava II +	2	Spain	Rodriguez-Pombo et al. 1998
Ex 6	614T>A	V205D	Acc I -	4	Austria	Muro et al.  1999
Ex 6	653A>G	V217-K218del2	Mse I -	1	Spain	Perez et al.  2003
Ex 7	683C>T	P228L		1	USA	Gravel et al.  1994
Ex 7	737G>T	G246V	Nla1 V	2	Spain	Perez et al.  2003
IN 7	IVS7-2del A	Skipping ex8 and 9 or skipping ex8,9, and 10		1	USA	Rodriguez-Pombo et al.  2000 Perez et al.  2003
Ex 8	790ins G	Fs and stop codon	Fok I +	1	Spain	Muro et al.  1999
Ex 9	985insT	E331X		1	Brazil	Perez et al.  2003
IN 9	IVS9+1G>T	Skipping ex9		2	Japan	Yang et al (2004)
Ex 10	1020del ATC	1341del ATC		1	Spain	Perez et al.  2003
IN 10	IVS10-11del 6	Skipping ex11		1	Spain	Rodriguez-Pombo et al. 1998
Ex 11	1170ins T	Fs and stop codon		8	Chile, Spain, USA	Hoenicka et al.  1998 Rodriguez-Pombo et al. 1998
IN 11	IVS11-2A>G	Skipping ex12 or G400T401del 2		2	Austria	Perez et al.  2003
Ex 12	1204del G	Fs and stop codon		1	USA	Rodriguez-Pombo et al. 2000 Perez et al. 2003
Ex 12	1218del 14 ins 12	Fs and stop codon	Msp I-	34	Chile, Ecuador, spain, USA	Lamhonwah et al. 1990 Tahara et al. 1990 Tahara et al. 1993 Gravel et al. 1994 Pėrez-Cerdá et al. 1994 Rodriguez-Pombo et al. 1998 Rodriguez-Pombo et al. 2000
Ex 12	1222del 3	Del I408		2	USA	Lamhonwah et al. 1990 Tahara et al. 1990
Ex 12	1228C>T	R410W	Msp I -	10	Brazil, Greek, Japan, Spain	Tahara et al. 1990 Tahara et al. 1993 Rodriguez-Pombo et al. 1998
Ex 12	1283C>T	T428I	Mae III -	5	Japan	Ohura et al. 1993a
Ex 12	1298ins A	Fs and stop codon		1	Chile	Rodriguez-Pombo et al. 1998
IN 12	IVS12+3del 8	Skipping ex12	Ava II -	1 or 2	Japan	Ohura et al. 1993b
Ex 13	1316A>G	Y439C		2	Korean	Kim et al.  2002
Ex 13	1325T>C	M442T	Nla III -	1	Spain	Muro et al. 1999
Ex 13	1357insT	Fs		1	Korean	Kim et al.  2003
IN 13	IVS13+1G>T	Skipping ex13		1	USA	Gravel et al.  1994
Ex 14	1495C>T	R499X		1	Japan	Ohura et al. 1993a
Ex 15	IVS14-1G>C	Abnormal splicing to produce G500fs		1	USA	Perez et al.  2003
Ex 15	1527delTCT	1527delTCT		2	Korean	Kim et al.  2003
Ex 15	1534C>T	R512C	Pml I -	1	Spain	Rodriguez-Pombo et al. 1998
Ex 15		R514X				Heptinstall et al. 1998
Ex 15	1540ins CCC	513ins P			Greenland	Ravn et al.  2000
Ex 15	1556T>C	L519P	Msp I +	1	Spain	Rodriguez-Pombo et al. 1998
Ex 15	1593G>A	W531X	Sty I -	1	Spain	Rodriguez-Pombo et al. 1998
Ex 15	1606A>G	N536D		1	USA	Gravel et al. 1994
	Polymorphisms
Ex 14	1490C>T	A497V	Bso FI -	4	Spain	Rodriguez-Pombo et al. 1998

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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