Calpain 3 Mutations NMD

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CAPN3 Gene: Mutations

Exon/ Intron	Family Origin	# Families (Homozygous Patients)	Position^a (Base pair)	Mutation^b	Amino Acid Position^c	Mutation	Reference
1	Spain	1	10	GTC®ATC^d	4	V4I	Hospital Sant Pau
	Turkey	1 (1)	1923	δGCATC	67	1923δGCATC	Dinçer (1997) Richard (1997)
	Réunion Island	1	43	δG	15	43δG	Richard (1999)
	Spain	1	60	δA	20	60δA	Hospital Sant Pau
	Italy	1	77	CCG®CTG^d	26	P26L	Richard (1999)
	France	1	224225	insT	76	224225insT	Richard (1999)
	France	1	229	GAC®AAC	77	D77N	Richard (1999)
	Lebanon	1 (1)	257	TCT®TTT	86	S86F	Richard (1997)
	France	1 (1)	277300	24-bp change	93100	δFPIQFVWK	Richard (1999)
2	Brazil	1 (1)	328	CGA®TGA^d	110	R110X	Richard (1995)
2	Bulgaria	1	352	AGA®GGA	118	R118G	Richard (1999)
3	United States	1	402	δC	134	402δC	Richard (1997)
	France	1 (1)	409	TGC®CGC	137	C137R	Richard (1999)
	Polish	1	418419	insC	140	418419insC	MGC Leiden
	Vietnam	1	424	CAG®TAG	142	Q142X	Hospital Sant Pau
	France	1	484	ATC®CTC	162	I162L	Richard (1999)
4	France	1	545	CTG®CAG	182	L182Q	Richard (1995)
	France	1	548	CCA®CTA	183	P183L	Richard (1999)
	France Greece Italy Netherlands Russia Turkey UK	5 1 1 2 1 (1) 5 (5) 1	550	δA	184	550δA	Richard (1995, 1997) Newcastle Richard (1997) MGC Leiden Richard (1999) Dinçer (1997) Newcastle
	Réunion Island	1	551	ACG®ATG^d	184	T184M	Richard (1999)
	United Kingdom	1	566	CTG®CCG	<189	L189P	Newcastle
	Bulgaria Germany	1 1	598612	15-bp change	200204	δFWSAL	Richard (1999) Häffner (1998)
IVS4-7	Basque	1		5,328-bp change		IVS4+404δ5328	Richard (1999)
5	Netherlands	1	640	GGT®AGT	214	G214S	MGC Leiden
	France	1	643	TCC®CCC	215	S215P	Richard (1997)
	United States	1	643663	21-bp change	215221	δSYEALKG	Richard (1997)
	United Kingdom	1	649	GAA®AAA	217	E217K	Newcastle
	Basque Spain	4 1 (1)	664	GGG®AGG	222	G222R	Urtasun (1998) Hospital Sant Pau
	Spain	1	676	GAG®AAG	226	E226K	Hospital Natr. Sra. Aranzazu
	France	1	695	ACA®ATA	232	T232I	Richard (1999)
	France	2	701	GGG®GAG	234	G234E	Richard (1995)
	Lebanon	1 (1)	717	δT	239	717δT	Richard (1997)
	France	2	759761	δGAA	253254	δK254	Richard (1999)
	IVS5:
	Germany	1	801+1	GT®AT	. . .	IVS5+1G®A	Häffner (1998)
6	France	2	887	δA	296	886δA	Richard (1999)
6	France	1	945	δG	315	945δG	Richard (1995)
IVS6	Réunion Island	16 (9)	946-1	AG®AA	. . .	IVS6-1G®A	Richard (1995) Penisson-Besnier (1998)
7	Lebanon	1	956	CCG®CTG^d	319	P319L	Richard (1997)
	France	1	1002	CAC®CAG	334	H334Q	Richard (1997)
	Turkey	1 (1)	1006	TAC®AAC	336	Y336N	Dinçer (1997)
8	France	1 (1)	1061	GTG®GGG	354	V354G	Richard (1995)
	France	1	1079	TGG®TAG	360	W360X	Richard (1995)
	Japan	2 (2)	1080	TGG®TGC	360	W360C	Kawai (1998)
IVS9	France	1	1194-9	A®G	. . .	IVS9-9A®G	Richard (1999)
10	Spain	1	12921293	insT	431	12921293insT	Hospital Natr. Sra. Aranzazu
	France	1	1309	CGC®TGC^d	437	R437C	Hospital Natr. Sra. Aranzazu
	Israel	1 (1)	1318	CGG®TGG^d	440	R440W	Richard (1997)
	Spain	1	13191322	δGGGG	440441	1319δGGGG	Hospital Natr. Sra. Aranzazu
	France	1	1322	GGT®GAT	441	G441D	Richard (1999)
	Netherlands	1	1333	GGA®AGA^d	445	G445R	MGC Leiden
	Netherlands	1	1342	CGC®TGC^d	448	R448C	MGC Leiden
	Spain	1					Hospital Natr. Sra. Aranzazu
	France	2 (1)	1342	CGC®GGC	448	R448G	Richard (1999)
	France United States	1 1	1343	CGC®CAC^d	448	R448H	Richard (1999)
11	United Kingdom	1	1373	δC	458	1373δC	Newcastle
	Spain United Kingdom	1 1	1435	AGC®GGC	479	S479G	Hospital Natr. Sra. Aranzazu Newcastle
	Basque	1	1456	CAG®GAG	486	Q486E	Urtasun (1998)
	Basque	2	1465	CGG®TGG^d	489	R489W	Urtasun (1998)
	Réunion Island	2	1466	CGG®CAG^d	489	R489Q	Richard (1999)
	US France	1 1	1468	CGG®TGG^d	490	R490W	Richard (1997) Richard (1995)
	France Turkey	5 (2) 1	1469	CGG®CAG^d	490	R490Q	Richard (1999) Dinçer (1997)
	France Spain	1 1	1477	CGG®TGG^d	493	R493W	Richard (1999) Hospital Sant Pau
	Italy	1	1486	GGG®AGG	496	G496R	Richard (1997)
	Netherlands	1	1505	ATT®ACT	502	I502T	MGC Leiden
13	France	1	1611	TAC®TAA	537	Y537X	Richard (1999)
	Turkey	1 (1)					Dinçer (1997) Richard (1997)
	France	1	1622	CGG®CAG^d	541	R541Q	Richard (1999)
	Switzerland	1 (1)	1699	GGG®TGG	567	G567W	Richard (1997)
	France	2 (1)	1714	CGG®TGG^d	572	R572W	Richard (1997)
	Réunion Island France	1 (1) 1	1715	CGG®CAG^d	572	R572Q	Richard (1995) Richard (1999)
	Europe	1	1743/1744	δTG	581582	1743δTG	Hospital Natr. Sra. Aranzazu
15	Spain	1	1785/1788	δAAAG	595596	1785δAAAG	Hospital Sant Pau
15	Japan	1 (1)	1795/1796	insA	599	17951796insA	Kawai (1998)
16	Italy Europe	1 1	1817	TCG®TTG^d	606	S606L	Richard (1997) Hospital Natr. Sra. Aranzazu
	France	2	1838	δA	613	1838δA	Richard (1999)
	France	1	1865	δAG	622	1865δAG	Richard (1999)
	Réunion Island	1 (1)	1872	GGC®GGT^d	624	1872 C®T	Richard and Beckmann (1995)
	Netherlands	1	1913	CAG®CCG	638	Q638P	MGC Leiden
17	Bulgaria	1	1981/1984	δATAG	661662	1981δATAG	Richard (1999)
	France	1	1981	δA	661	1981δA	Richard (1999)
	United Kingdom	1	1983	δA	661	1983δA	Newcastle
IVS17	Spain	2	1992+1	GT®AT	. . .	IVS17+1G®T	Hospital Natr. Sra. Aranzazu
IVS17	United Kingdom	1	1993-1	AG®AT	. . .	IVS17-1G®T	Newcastle
19	Réunion Island	1	2069/2070	δAC	690	2069δCA	Richard (1995)
	United Kingdom	1	2093	CGT®CCT	698	R698P	Newcastle
	Turkey France	1 (1) 1 (1)	2105	GCG®GTG^d	702	A702V	Dinçer (1997) Richard (1997) Richard (1999)
	France	1	2113	GAT®CAT	705	D705H	Hospital Natr. Sra. Aranzazu
	Greece	1	2114	GAT®GCT	705	D705G	Newcastle
IVS20- exon21	Spain	1	(2185-12)/ 2194	22-bp change	. . .	V(IVS20-12)/2194δ	Hospital Natr. Sra. Aranzazu
IVS20	France Canada	1 1 (1)	2185-2	AG®GG	. . .	IVS20-2AG®GG	Richard (1999)
21	France	1	2192	TTC®TCC	731	F731S	Richard (1999)
	Réunion Island	3	2230	AGC®GGC	744	S744G	Richard (1995) Penisson-Besnier (1998)
	Basque Spain Turkey	3 4 (2) 1 (1)	2243	CGA®CAA^d	748	R748Q	Urtasun (1998) Hospital Sant Pau Hospital Ntra. Sra.Aranzazu Dinçer (1997) Richard (1997)
IVS21	Spain	1	2263+2	GT®GA	. . .	IVS21+2T®A	Hospital Natr. Sra. Aranzazu
22	US (Amish) Brazil France	19 (19) 1 (1) 2	2306	CGG®CAG^d	769	R769Q	Richard (1995)
	Brazil	1	23132316	δAGAC	771772	2313δAGAC	Richard (1995)
	France	1	23172321	AAACA®T	773774	2317AAACA®T	Richard (1999)
	Netherlands	1	23192320	insA	774	23192320insA	MGC Leiden
	Brazil Réunion Island Basque Spain US	1 3 39 (31) 8 (3) 2	23622363	AG®TCATCT	788	2362AG®TCATCT	Richard (1997) Richard (1997) Urtasun (1998) Hospital Sant Pau Hospital Natr. Sra. Aranzazu Richard (1997)

^a Numbering based on cDNA, starting from ATG.
^b Mutated nucleotides are underlined.
^c Numbering based on protein sequence, starting from 1st methionine residue.
^d Modified CpG site.

References

1. Cell 1995;81:27-40
2. Am J Hum Genet 1997;60:1128-1138
3. Brain 1998;121:1735-1747
4. Ann Neurol 42:222-229
5. Muscle Nerve 1998;21:1078-1080
6. Am J Hum Genet 1999;64:1524-1540
7. Hum Mutat Suppl 1998;1:S298-S300
8. Muscle Nerve 21:1493-1501
9. Nat Genet 1995;10:259

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5/17/99