Table 2.
Mutations detected in 17 Indian patients with glutaric aciduria type 1
| Case no. | Exon | Mutation at nucleotide level | Mutation at protein level | Frequency (alleles) | Type of mutations | Reported/novel | PolyPhen2/SIFT prediction | References |
|---|---|---|---|---|---|---|---|---|
| F11a | 4 | c.281G>A | p.Arg94Gln | 2/34 | Missense | Novel | Probably damaging/damaging | This study |
| F11b | ||||||||
| F10a | 6 | c.401A>G | p.Asp134Gly | 4/34 | Missense | Novel | Probably damaging/damaging | This study |
| F10b | ||||||||
| F12 | 8 | c.650C>T | p.Pro217Leu | 1/34 | Missense | Reported | – | Zschocke et al. (2000) |
| F11a | 8 | c.662T>C | p.Leu221Pro | 2/34 | Missense | Novel | Probably damaging /damaging | This study |
| F11b | ||||||||
| F3 | 8 | c.764C>T | p.Ser255Leu | 1/34 | Missense | Reported | – | Busquets et al. (2000a) |
| F8 | 8 | c.769C>T | p.Arg257Trp | 2/34 | Missense | Reported | – | Schwartz et al. (1998) |
| F9 | 8 | c.770G>A | p.Arg257Gln | 2/34 | Missense | Reported | – | Schwartz et al. (1998) |
| F3 | 9 | c.881G>C | p.Arg294Pro | 1/34 | Missense | Novel | Probably damaging/damaging | This study |
| F15 | 9 | c.937C>T | p.Arg313Trp | 1/34 | Missense | Reported | – | Goodman et al. (1998) |
| F15 | 11 | c.1173delG | p.Asn392Metfs*9 | 1/34 | Frameshift | Reported | Truncated protein | Anikster et al. (1996) |
| F12 | 11 | c.1173dupG | p.Asn392Glufs*5 | 1/34 | Frameshift | Novel | Truncated protein | This study |
| F4, F5, F6, F7 | 11 | c.1204C>T | p.Arg402Trp | 8/34 | Missense | Reported | – | Biery et al. (1996) |
| F13, F14 | 11 | c.1207C>T | p.His403Tyr | 4/34 | Missense | Reported | – | Wang et al. (2013) |
| F1 | 11 | c.1238A>G | p.Tyr413Cys | 2/34 | Missense | Novel | Probably damaging/damaging | This study |
| F2 | 11 | c.1241A>C | p.Glu414Ala | 2/34 | Missense | Novel | Probably damaging/damaging | This study |