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CAPN3 Gene: Mutations

Exon/
  Intron
Family
Origin
# Families
(Homozygous
Patients)
Positiona
(Base pair)
Mutationb Amino
Acid
Position
c
Mutation Reference
1 Spain 1 10 GTC®ATCd4V4IHospital Sant Pau
Turkey1 (1) 19­23 δGCATC 6­7 19­23δGCATC Dinçer (1997)
Richard (1997)
Réunion
  Island
143δG1543δGRichard (1999)
Spain160δA2060δAHospital Sant Pau
Italy177CCG®CTGd26P26LRichard (1999)
France1224­225insT76224­225insTRichard (1999)
France1229GAC®AAC77D77NRichard (1999)
Lebanon1 (1)257TCT®TTT86S86FRichard (1997)
France1 (1)277­30024-bp change93­100δFPIQFVWKRichard (1999)
2 Brazil1 (1)328CGA®TGAd110R110XRichard (1995)
Bulgaria1352AGA®GGA118R118GRichard (1999)
3 United
  States
1402δC134402δCRichard (1997)
France1 (1)409TGC®CGC137C137RRichard (1999)
Polish1418­419insC140418­419insCMGC Leiden
Vietnam1424CAG®TAG142Q142XHospital Sant Pau
France1484ATC®CTC162I162LRichard (1999)
4 France1545CTG®CAG182L182QRichard (1995)
France1548CCA®CTA183P183LRichard (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
1551ACG®ATGd184T184MRichard (1999)
United
  Kingdom
1566CTG®CCG<189L189PNewcastle
Bulgaria

Germany
1

1
598­61215-bp change200­204δFWSALRichard (1999)

Häffner (1998)
IVS4-7 Basque1
5,328-bp change
IVS4+404δ5328Richard (1999)
5 Netherlands1640GGT®AGT214G214SMGC Leiden
France1643TCC®CCC215S215PRichard (1997)
United
  States
1643­66321-bp change215­221δSYEALKGRichard (1997)
United
  Kingdom
1649GAA®AAA217E217KNewcastle
Basque

Spain
4

1 (1)
664 GGG®AGG 222G222R Urtasun (1998)

Hospital Sant Pau
Spain1 676GAG®AAG226E226KHospital Natr.
  Sra. Aranzazu
France1695ACA®ATA232T232IRichard (1999)
France2701GGG®GAG234G234ERichard (1995)
Lebanon1 (1)717δT239717δTRichard (1997)
France2759­761δGAA253­254δK254Richard (1999)
IVS5:





Germany1 801+1 GT®AT . . .IVS5+1G®AHäffner (1998)
6 France2887δA296886δARichard (1999)
France1945δG315945δGRichard (1995)
IVS6 Réunion
  Island
16 (9)946-1 AG®AA . . . IVS6-1G®ARichard (1995)
Penisson-Besnier (1998)
7 Lebanon1956CCG®CTGd319P319LRichard (1997)
France11002CAC®CAG334H334QRichard (1997)
Turkey1 (1)1006TAC®AAC336Y336NDinçer (1997)
8 France1 (1)1061GTG®GGG354V354GRichard (1995)
France11079TGG®TAG360W360XRichard (1995)
Japan2 (2)1080TGG®TGC360W360CKawai (1998)
IVS9 France11194-9A®G. . .IVS9-9A®GRichard (1999)
10 Spain11292­1293insT4311292­1293insTHospital Natr.
  Sra. Aranzazu
France11309CGC®TGCd437R437CHospital Natr.
  Sra. Aranzazu
Israel1 (1)1318CGG®TGGd440R440WRichard (1997)
Spain11319­1322δGGGG440­4411319δGGGGHospital Natr.
  Sra. Aranzazu
France11322GGT®GAT441G441DRichard (1999)
Netherlands11333GGA®AGAd445G445RMGC Leiden
Netherlands11342CGC®TGCd448R448CMGC Leiden
Spain1



Hospital Natr.
  Sra. Aranzazu
France2 (1)1342CGC®GGC448R448GRichard (1999)
France

United
  States
1

1
1343CGC®CACd448R448HRichard (1999)
11 United
  Kingdom
11373δC4581373δCNewcastle
Spain

United
  Kingdom
1

1
1435 AGC®GGC 479S479G Hospital Natr.
  Sra. Aranzazu

Newcastle
Basque11456CAG®GAG486Q486EUrtasun (1998)
Basque21465CGG®TGGd489R489WUrtasun (1998)
Réunion
  Island
21466CGG®CAGd489R489QRichard (1999)
US

France
1

1
1468CGG®TGGd490R490WRichard (1997)

Richard (1995)
France

Turkey
5 (2)

1
1469CGG®CAGd490R490QRichard (1999)

Dinçer (1997)
France

Spain
1

1
1477CGG®TGGd493R493WRichard (1999)

Hospital Sant Pau
Italy11486GGG®AGG496G496RRichard (1997)
Netherlands11505ATT®ACT502I502TMGC Leiden
13France 11611 TAC®TAA 537Y537X Richard (1999)
Turkey 1 (1)



Dinçer (1997)
Richard (1997)
France11622CGG®CAGd541R541QRichard (1999)
Switzerland1 (1)1699GGG®TGG567G567WRichard (1997)
France2 (1)1714CGG®TGGd572R572WRichard (1997)
Réunion
  Island

France
1 (1)

1
1715CGG®CAGd572R572Q Richard (1995)


Richard (1999)
Europe11743/1744δTG581­5821743δTGHospital Natr.
  Sra. Aranzazu
15 Spain11785/1788δAAAG595­5961785δAAAGHospital Sant Pau
Japan1 (1)1795/1796insA5991795­1796insAKawai (1998)
16 Italy

Europe
1

1
1817TCG®TTGd606S606LRichard (1997)

Hospital Natr.
  Sra. Aranzazu
France21838δA6131838δARichard (1999)
France11865δAG6221865δAGRichard (1999)
Réunion
  Island
1 (1)1872GGC®GGTd6241872 C®TRichard and
  Beckmann (1995)
Netherlands11913CAG®CCG638Q638PMGC Leiden
17 Bulgaria11981/1984δATAG661­6621981δATAGRichard (1999)
France11981δA6611981δARichard (1999)
United
  Kingdom
11983δA6611983δANewcastle
IVS17 Spain21992+1GT®AT. . .IVS17+1G®THospital Natr.
  Sra. Aranzazu
United
  Kingdom
11993-1AG®AT. . .IVS17-1G®TNewcastle
19 Réunion
  Island
12069/2070δAC6902069δCARichard (1995)
United
  Kingdom
12093CGT®CCT698R698PNewcastle
Turkey

France
1 (1)

1 (1)
2105GCG®GTGd702A702VDinçer (1997)
Richard (1997)
Richard (1999)
France12113GAT®CAT705D705HHospital Natr.
  Sra. Aranzazu
Greece12114GAT®GCT705D705GNewcastle
IVS20-
  exon21
Spain1(2185-12)/
2194
22-bp change. . .V(IVS20-12)/2194δHospital Natr.
  Sra. Aranzazu
IVS20 France

Canada
1

1 (1)
2185-2AG®GG. . .IVS20-2AG®GGRichard (1999)
21 France1 2192TTC®TCC731F731SRichard (1999)
Réunion
  Island
32230 AGC®GGC 744S744G Richard (1995)
Penisson-Besnier (1998)
Basque

Spain


Turkey
3

4 (2)


1 (1)
2243 CGA®CAAd748R748QUrtasun (1998)

Hospital Sant Pau
Hospital Ntra.
Sra.Aranzazu
Dinçer (1997)
Richard (1997)
IVS21 Spain12263+2GT®GA. . .IVS21+2T®AHospital Natr.
  Sra. Aranzazu
22 US (Amish)

Brazil

France
19 (19)

1 (1)

2
2306CGG®CAGd769R769QRichard (1995)
Brazil12313­2316δAGAC771­7722313δAGACRichard (1995)
France12317­2321AAACA®T773­7742317AAACA®TRichard (1999)
Netherlands12319­2320insA7742319­2320insAMGC Leiden
Brazil

Réunion
  Island

Basque

Spain


US
1

3


39 (31)

8 (3)


2
2362­2363 AG®TCATCT 7882362AG®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