Table 2.
Details of the DNM1 mutations variants of 33 cases.
| Case Sequence (reference number) | Domain involved | Mutation | MutationTaster | Polyphen-2 | SIFT | SIFT SCORE | rs. number |
|---|---|---|---|---|---|---|---|
| 1 (Deng et al., 2016) | GTPase | c.443A > G (p.Gln148Arg) | Disease causing | Probably damaging | Damaging | 0 | NO rs |
| 2 (Nakashima et al., 2016) | GTPase | c.127G > A (p.Gly43Ser) | Disease causing | Probably damaging | Damaging | 0.001 | NO rs |
| 3 (Nakashima et al., 2016) | GTPase | c.709C > T (p.Arg237Trp) | Disease causing | Probably damaging | Damaging | 0 | rs760270633 |
| 4 (Appenzellar, 2014) | GTPase | c.194C > A (p.Thr65Asn) | Disease causing | Probably damaging | Damaging | 0 | NO rs |
| 5 (Appenzellar, 2014) | GTPase | c.529G > C (p.Ala177Pro) | Disease causing | Probably damaging | Damaging | 0.001 | rs587777860 |
| 6 (Appenzellar, 2014) | GTPase | c.618G > C (p.Lys206Asn) | Disease causing | Probably damaging | Damaging | 0 | rs587777861 |
| 7 (Appenzellar, 2014) | GTPase | c.709C > T (p.Arg237Trp) | Disease causing | Probably damaging | Damaging | 0 | rs76020633 |
| 8 (Appenzellar, 2014) | Middle | c.1076G > C (p.Gly359Ala) | Disease causing | Probably damaging | Damaging | 0.001 | rs587777862 |
| 9 (Allen et al., 2016) | GTPase | c.865A > T (p.Ile289Phe) | Disease causing | Probably damaging | Damaging | 0.01 | NO rs |
| 10 (von Spiczak et al., 2017) | GTPase | c.127G > A (p.Gly43Ser) | Disease causing | Probably damaging | Damaging | 0 | NO rs |
| 11 (von Spiczak et al., 2017) | GTPase | c.134G > A (p.Ser45Asn) | Disease causing | Probably damaging | Damaging | 0 | NO rs |
| 12 (von Spiczak et al., 2017) | GTPase | c.194C > A (p.Thr65Asn) | Disease causing | Probably damaging | Damaging | 0 | NO rs |
| 13 (von Spiczak et al., 2017) | GTPase | c.416G > T (p.Gly139Val) | Disease causing | Probably damaging | Damaging | 0 | NO rs |
| 14 (von Spiczak et al., 2017) | GTPase | c.529G > C (p.Ala177Pro) | Disease causing | Probably damaging | Damaging | 0.001 | rs587777860 |
| 15 (von Spiczak et al., 2017) | GTPase | c.616A > G (p.Lys206Glu) | Disease causing | Probably damaging | Damaging | 0 | NO rs |
| 16 (von Spiczak et al., 2017) | GTPase | c.709C > T (p.Arg237Trp) | Disease causing | Probably damaging | Damaging | 0 | rs760270633 |
| 17 (von Spiczak et al., 2017) | GTPase | c.709C > T (p.Arg237Trp) | Disease causing | Probably damaging | Damaging | 0 | rs760270633 |
| 18 (von Spiczak et al., 2017) | GTPase | c.709C > T (p.Arg237Trp) | Disease causing | Probably damaging | Damaging | 0 | rs760270633 |
| 19 (von Spiczak et al., 2017) | GTPase | c.709C > T (p.Arg237Trp) | Disease causing | Probably damaging | Damaging | 0 | rs760270633 |
| 20 (von Spiczak et al., 2017) | GTPase | c.709C > T (p.Arg237Trp) | Disease causing | Probably damaging | Damaging | 0 | rs760270633 |
| 21 (von Spiczak et al., 2017) | GTPase | c.709C > T (p.Arg237Trp) | Disease causing | Probably damaging | Damaging | 0 | rs760270633 |
| 22 (von Spiczak et al., 2017) | GTPase | c.713G > A * (p.Ser238Ile) | N/A | N/A | Damaging | 0 | NO rs |
| 23 (von Spiczak et al., 2017) | Middle | c.1037G > T (p.Gly346Val) | Disease causing | Probably damaging | Damaging | 0 | rs1064794903 |
| 24 (von Spiczak et al., 2017) | Middle | c.1075G > A (p.Gly359Arg) | Disease causing | Probably damaging | Damaging | 0 | NO rs |
| 25 (von Spiczak et al., 2017) | Middle | c.1075G > A (p.Gly359Arg) | Disease causing | Probably damaging | Damaging | 0 | NO rs |
| 26 (von Spiczak et al., 2017) | Middle | c.1117G > A (p.Glu373Lys) | Disease causing | Probably damaging | Damaging | 0.046 | NO rs |
| 27 (von Spiczak et al., 2017) | Middle | c.1190G > A (p.Gly397Asp) | Disease causing | Probably damaging | Damaging | 0.002 | NO rs |
| 28 (Kolnikova et al., 2018) | Middle | c.1089_1090insCTTCCA (p.Asn363_Arg364insLeuPro) | polymorphism | N/A | N/A | NO rs | |
| 29 (Allen et al., 2013) | Middle | c.1190G > A (p.Gly397Asp) | Disease causing | Probably damaging | Damaging | 0.002 | NO rs |
| 30 (Lazzara et al., 2018) | Middle | c.796C > T (p. Arg266Cys) | Disease causing | Probably damaging | Damaging | 0 | rs138053929 |
| 31 (Brereton et al., 2018) | PH | c.1603A > G (p.Lys535Glu) | Disease causing | possibly damaging | Damaging | 0.002 | NO rs |
| 32 (Brereton et al., 2018) | PH | c.1603A > G (p.Lys535Glu) | Disease causing | possibly damaging | Damaging | 0.002 | NO rs |
| Present case | GTPase | c.135C > A (p.Ser45Arg) | Disease causing | Probably damaging | Damaging | 0.006 | NO rs |
Transcript ID: ENST00000372923.
*Transcription is unknown.
N/A, not available.