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LOVD - Variant listings for GAA

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199 entries
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DNA change   Descending
Ascending
Protein Hide Protein column Descending
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Variant remarks Hide Variant remarks column Descending
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dbSNP ID Hide dbSNP ID column Descending
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c.1265G>A p.R422Q maped to NM_000152.3 rs2229224
c.1352C>G p.P451R maped to NM_000152.3 {DbSNP7215458:rs7215458}
c.257C>G p.P86R maped to NM_000152.3 rs2229222
c.2780C>T p.T927I maped to NM_000152.3 {DbSNP1800315:rs1800315}
c.2808C>T p.D936D maped to NM_000152.3 {DbSNP1800316:rs1800316}
c.447G>A p.T149T maped to NM_000152.3 rs2289536
c.67A>G p.T23A maped to NM_000152.3 rs2289537
c.705G>A p.T235T maped to NM_000152.3 rs2304846
c.3G>A p.M1I Kroos (2008) Hum Mutat 29:E13 -
c.118C>T p.R40X Reuser (1995) Muscle Nerve 3S3:S61 -
c.136T>C p.S46P Oba-Shinjo (2009) J Neurol 256:1881 -
c.172C>T p.Q58X Huie (1999) Am J Med Genet 85:5 -
c.271G>A
  (Reported 2 times)		 p.D91N Löscher WN J Neurol. 2018 Gutiérrez-Rivas Neuromuscul Disord. 2015 -
c.307T>G p.C103G Hermans (2004) Hum Mutat 23:47 -
c.309C>A p.C103X Hermans (2004) Hum Mutat 23:47 -
c.324T>C p.C108C maped to NM_000152.3 {DbSNP1800300:rs1800300}
c.343C>T p.Q115X Gort (2007) Mol Genet Metab 92:183 -
c.377G>A p.W126X Palmer (2007) Neuromuscul Disord 17:16 -
c.399C>A p.Y133X Montalvo (2004) Mol Genet Metab 81:203 -
c.421C>A p.L141M Wan (2008) J Neurol 255:831 -
c.461G>C p.R154P Nascimbeni (2008) Neurology 70:617 -
c.506T>C p.L169P Gort (2007) Mol Genet Metab 92:183 -
c.569G>A p.R190H Kroos (2008) Hum Mutat 29:E13 -
c.572A>G p.Y191C Pittis (2008) Hum Mutat 29:E27 -
c.573C>A p.Y191X Fernandez-Hojas (2002) Neuromuscul Disord 12:159 -
c.596A>G p.H199R maped to NM_000152.3 {DbSNP1042393:rs1042393}
c.623T>C p.L208P Laforet (2000) Neurology 55:1122 -
c.634G>T p.E212X Oba-Shinjo (2009) J Neurol 256:1881 -
c.642C>T p.S214S maped to NM_000152.3 {DbSNP1800301:rs1800301}
c.650C>T p.P217L Oba-Shinjo (2009) J Neurol 256:1881 -
c.655G>A p.G219R Fernandez-Hojas (2002) Neuromuscul Disord 12:159 -
c.668G>A p.R223H maped to NM_000152.3 {DbSNP1042395:rs1042395}
c.670C>T p.R224W Pittis (2003) Am J Med Genet 121A:225 -
c.710C>T p.A237V Anneser (2005) Neurology 64:368 -
c.725C>T p.A242V Kroos (2008) Hum Mutat 29:E13 -
c.743T>C p.L248P Kroos (2008) Hum Mutat 29:E13 -
c.776G>T p.G259V Kroos (2008) Hum Mutat 29:E13 -
c.784G>A p.E262K Fernandez-Hojas (2002) Neuromuscul Disord 12:159 -
c.796C>T p.P266S Park (2006) J Neurol Sci 251:113 -
c.853C>T p.P285S Kroos (2008) Hum Mutat 29:E13 -
c.854C>G p.P285R Hermans (2004) Hum Mutat 23:47 -
c.871C>T p.L291F Kroos (2008) Hum Mutat 29:E13 -
c.872T>A p.L291H Kroos (2008) Hum Mutat 29:E13 -
c.872T>C p.L291P Kroos (2008) Hum Mutat 29:E13 -
c.875A>G p.Y292C Castro-Gago (1999) Rev Neurol 29:46 -
c.877G>A p.G293R Hermans (2004) Hum Mutat 23:47 -
c.893A>C p.Y298S Wan (2008) J Neurol 255:831 -
c.896T>C p.L299P Kroos (2008) Hum Mutat 29:E13 -
c.896T>G p.L299R Boerkoel (1995) Am J Hum Genet 56:887 -
c.921A>T p.A307A maped to NM_000152.3 {DbSNP1800303:rs1800303}
c.923A>C p.H308P Hermans (2004) Hum Mutat 23:47 -
c.923A>T p.H308L Laforet (2000) Neurology 55:1122 -
c.925G>A p.G309R Kroos (1998) Clin Genet 53:379 -
c.935T>G p.L312R Hermans (2004) Hum Mutat 23:47 -
c.953T>A p.M318K Kroos (2008) Hum Mutat 29:E13 -
c.953T>C p.M318T Zhong (1991) Am J Hum Genet 49:635 -
c.971C>T p.P324L Laforet (2000) Neurology 55:1122 -
c.988T>G p.W330G Dou (2006) Clin Chim Acta 374:145 -
c.989G>A p.W330X Pittis (2003) Am J Med Genet 121A:225 -
c.1003G>A p.G335R Kroos (2008) Hum Mutat 29:E13 -
c.1040C>G p.P347R Kroos (2008) Hum Mutat 29:E13 -
c.1062C>G p.Y354X Kroos (2008) Hum Mutat 29:E13 -
c.1064T>C p.L355P Hermans (2004) Hum Mutat 23:47 -
c.1075G>T p.G359X Kishnani (2010) Mol Genet Metab 99:26 -
c.1082C>T p.P361L Lam (2003) Neurology 60:715 -
c.1099T>C p.W367R Palmer (2007) Neuromuscul Disord 17:16 -
c.1100G>A p.W367X McCready (2007) Mol Genet Metab 92:325 -
c.1115A>T p.H372L Van den Hout (2004) Pediatrics 113:e448 -
c.1120T>C p.C374R Hermans (2004) Hum Mutat 23:47 -
c.1124G>T p.R375L Pittis (2008) Hum Mutat 29:E27 -
c.1129G>C p.G377R Kishnani (2006) J Pediatr 149:89 -
c.1134C>G p.Y378X Kroos (2008) Hum Mutat 29:E13 -
c.1202A>G p.Q401R Pittis (2008) Hum Mutat 29:E27 -
c.1203G>A p.Q401Q maped to NM_000152.3 {DbSNP1800304:rs1800304}
c.1210G>A p.D404N Amartino (2006) Clin Genet 69:187 -
c.1214T>C p.L405P Hermans (2004) Hum Mutat 23:47 -
c.1222A>G p.M408V Fernandez-Hojas (2002) Neuromuscul Disord 12:159 -
c.1239C>G p.D413E Dlamini (2008) Neuromuscul Disord 18:408 -
c.1309C>T p.R437C Lam (2003) Neurology 60:715 -
c.1316T>A p.M439K Park (2006) J Neurol Sci 251:113 -
c.1333G>C p.A445P Montalvo (2006) Hum Mutat 27:999 -
c.1364A>G p.Y455C Gort (2007) Mol Genet Metab 92:183 -
c.1364A>T p.Y455F Hermans (2004) Hum Mutat 23:47 -
c.1370C>T p.P457L Kroos (2008) Hum Mutat 29:E13 -
c.1374C>T p.Y458Y maped to NM_000152.3 {DbSNP1800305:rs1800305}
c.1375G>A p.D459N Wan (2008) J Neurol 255:831 -
c.1381G>A p.G461S Kroos (2008) Hum Mutat 29:E13 -
c.1396G>T p.V466F Kroos (2008) Hum Mutat 29:E13 -
c.1397T>G p.V466G Palmer (2007) Neuromuscul Disord 17:16 -
c.1432G>A p.G478R Reuser (1995) Muscle Nerve 3S3:S61 -
c.1437G>C p.K479N Wan (2008) J Neurol 255:831 -
c.1441T>C p.W481R Raben (1998) Hum Mutat 13:83 -
c.1445C>G p.P482R Kroos (2008) Hum Mutat 29:E13 -
c.1445C>T p.P482L Gort (2007) Mol Genet Metab 92:183 -
c.1447G>A p.G483R Kroos (2008) Hum Mutat 29:E13 -
c.1448G>T p.G483V Kroos (2008) Hum Mutat 29:E13 -
c.1456G>C p.A486P Oba-Shinjo (2009) J Neurol 256:1881 -
c.1460T>C p.F487S Kroos (2008) Hum Mutat 29:E13 -
c.1465G>A p.D489N Montalvo (2006) Hum Mutat 27:999 -
c.1493G>A p.W498X Kishnani (2010) Mol Genet Metab 99:26 -
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Legend: [ GAA full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
DNA change: Variation at DNA-level to coding DNA Reference Sequence. ex: c.7C>T, c.-15T>A, c.77+1G>A, 78-1G>A, c.*2T>A Protein: Variation at protein level. Variant remarks: Variant remarks dbSNP ID: rs#

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