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 |