Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders

Neurodegeneration with Brain Iron Accumulation-Mutation Database

PLA2G6 (NM_003560)
Nucleotide Change Amino Acid Change References
c.209G>A p.R70Q rs11570607
c.680C>T (UPD22)* p.A227V Tello (2017) Clin Genet 93:731 
c.895-16T>A  Splicing Novel
c.1010T>A p.L337Q Novel
c.1027G>A p.A343T rs11570680
c.1435C>G p.H479D Novel
c.1442T>A p.L481Q Romani (2015) Eur J Neurol  22:178
c.1494C>T p.I498I Novel
c.1547dupGC p.G517Afs*28 Koroglu (2013) J Med Genet 50:515
c.1615C>A p.G539S rs143826762
c.1626T>A p.F542L Novel
c.1640A>G p.E547G Romani (2015) Eur J Neurol  22:1
c.1903C>T p.R635* Romani (2015) Eur J Neurol  22:1
c.2017C>T p.Q673* Novel
c.2032A>G p.K678E Novel
c.2221C>T p.R741W rs530348521
c.2370T>G p.Y790*  Morgan (2006) Nat Genet 38:752
PANK2 (NM_153638)
Nucleotide Change Amino Acid Change References
c.401A>G p.E134G rs765679726
c.505_512del p.S169Gfs*9 rs755653150
c.570_571delCA p.Y190* Novel
c.570C>G p.Y190* rs137852960
c.638G>A  p.W213* Gatto (2010) Mov Disord 25:2262
c.680A>G p.Y227C Saleheel (2007) Pediatr Neurol 37:296
c.698T>A p.I233K Novel
c.747dupC p.R249Pfs*43 Novel
c.790C>T p.R264W rs137852961
c.980C>T  p.T327I Zhou (2001) Nat Genet 28:345
c.982-1G>A Splicing Leoni (2012) Mol Genet Metab 105: 463
c.1064A>G  p.N355S rs746484727
c.1070G>C p.R357P Novel
c.1171dupATTG p.G91Dfs*6 Novel
c.1211A>T p.N404I Morales-Briceño (2015) Clin Genet  87:259
c.1424T>C p.M475T  Novel
c.1442G>A  p.R481Q Hartig (2006) Ann Neurol 59:248
c.1475C>G p.A492G Novel
c.1502T>C p.I501T rs775459398
c.1561G>A  p.G521R rs137852959
c.1583C>T p.T528M rs137852967
c.1663-11T>G Splicing Novel
c.(628+1_629-1)_(1536+1_1537-1)del p.L210_S471del Novel
WDR45 (NM_007075)
Nucleotide Change Amino Acid Change References
c.182A>C p.N61T Novel
FTL (NM_000146.3)
Nucleotide Change Amino Acid Change References
c.286G>A p.A96T Maciel (2005) Neurology 65:603
c.509_*4del p.L170_Pfs*8 Novel
CP (NM_000096)
Nucleotide Change Amino Acid Change References
c.1652C>T p.T551I rs61733458 
c.2684G>C p.G895A rs139633388

 

 

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