Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders

Neurodegeneration with Brain Iron Accumulation-Mutation Database

PLA2G6

Nucleotide Change

 

Amino Acid Change

Symbol Transcript ID References
c.209G>A p.R70Q PLA2G6 NM_003560 rs11570607
c.680C>T (UPD22)* p.A227V PLA2G6 NM_003560 Tello (2017) Clin Genet
*Uniparental Disomy chromosome 22
c.895-16T>A  Splicing PLA2G6 NM_003560 Novel
c.1010T>A p.L337Q PLA2G6 NM_003560 Novel
c.1027G>A p.A343T PLA2G6 NM_003560 rs11570680
c.1211 A>T p.N404I PLA2G6 NM_003560 rs752078407
c.1435C>G p.H479D PLA2G6 NM_003560 Novel
c.1547dupGC p.G517Afs*28 PLA2G6 NM_003560 Koroglu (2013) J Med Genet 50:515
c.1615C>A p.G539S PLA2G6 NM_003560 rs143826762
c.1640A>G p.E547G PLA2G6 NM_003560 Romani (2015) Eur J Neurol  22:1
c.1903C>T p.R635* PLA2G6 NM_003560 rs587784339
c.209G>A p.R70Q PLA2G6 NM_003560 rs11570607
c.2017C>T p.Q673* PLA2G6 NM_003560 Novel
c.2221C>T p.R741W PLA2G6 NM_003560 rs530348521
c.2370T>G p.Y790*  PLA2G6 NM_003560 rs121908680

PANK2

Nucleotide Change

 

Amino Acid Change

Symbol Transcript ID References
c.401G>A p.E134G PANK2 NM_153638 rs765679726
c.570_571delCA p.Y190* PANK2 NM_153638 Novel
c.570C>G p.Y190* PANK2 NM_153638 rs137852960
c.680A>G p.Y227C PANK2 NM_153638 Saleheel (2007) Pediatr Neurol 37:296
c.698T>A p.I233K PANK2 NM_153638 Novel
c.747dupC p.R249Pfs*43 PANK2 NM_153638 Novel
c.790C>T p.R264W PANK2 NM_153638 rs137852961
c.980C>T  p.T327I PANK2 NM_153638 Zhou (2001) Nat Genet 28:345
c.1064A>G  p.N355S PANK2 NM_153638 rs746484727
c.1070G>C p.R357P PANK2 NM_153638 Novel
c.1171dupATTG p.G91Dfs*6 PANK2 NM_153638 Novel
c.1211A>T p.N404I PANK2 NM_153638 rs752078407
c.1231G>A p.G521R PANK2 NM_153638 rs137852959
c.1424T>C p.M475T  PANK2 NM_153638 Novel
c.1442G>A  p.R481Q PANK2 NM_153638 Hartig (2006) Ann Neurol 59:248
c.1475C>G p.A492G PANK2 NM_153638 Novel
c.1502T>C p.I501T PANK2 NM_153638 rs775459398
c.1561G>A  p.G521R PANK2 NM_153638 rs137852959
c.1583C>T p.T528M PANK2 NM_153638 rs137852967
c.1663-11T>G Splicing PANK2 NM_153638 Novel
c.(628+1_629-1)_(1536+1_1537-1)del p.L210_S471del PANK2 NM_153638 Novel

PrintEmail