Research Article
Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy
Table 4
Functional prediction of mutation in ARSA with amino acid changing by PolyPhen-2.
| | Mutation | Function | Score | Sensitivity | Specificity |
| | 251C>A (pPro84Gln) | Probably damaging | 0.911 | 0 | 0.94 | | 1172T>G (p.Val391Gly) | Probably damaging | 1 | 0 | 1 | | 911A>T (p.Lys304Ile) | Probably damaging | 1 | 0 | 1 | | 1049T>A (p.Leu350Gln) | Probably damaging | 1 | 0 | 1 | | 917C>T (P.Thr306Met) | Probably damaging | 1 | 0 | 1 | | 827C>T (P.Thr276Met) | Probably damaging | 1 | 0 | 1 | | 925G>A (p.Glu309Lys) | Probably damaging | 1 | 0 | 1 | | 427T>C (p.Phe143Leu) | Probably damaging | 0.999 | 0.14 | 0.99 | | 1238A>G (p.Asp413Gly) | Probably damaging | 1 | 0 | 1 | | 244C>T (p.Arg82Trp) | Probably damaging | 1 | 0 | 1 | | 853C>G (p.Asp283Glu) | Probably damaging | 1 | 0 | 1 | | 218C>T (p.Pro73Leu) | Probably damaging | 1 | 0 | 1 | | 827C>T (P.Thr276Met) | Probably damaging | 1 | 0 | 1 | | 257G>A (p.Arg86Gln) | Probably damaging | 1 | 0 | 1 | | 925G>A (pGlu309Lys) | Probably damaging | 1 | 0 | 1 | | 302G>T (pGly101Val) | Probably damaging | 1 | 0 | 1 | | 640G>A (p. Ala214Thr) | Probably damaging | 0.994 | 0.69 | 0.97 | | 893G>T (p.Gly298Val) | Probably damaging | 1 | 0 | 1 | | 754T>C (p.Ser252Pro) | Probably damaging | 0.996 | 0.55 | 0.98 | | 1160G>T (p.387 Gly>ValV) | Probably damaging | 1 | 0 | 1 | | 830T>C (p.Leu277Pro) | Probably damaging | 1 | 0 | 1 | | 383T>C (p.Leu128Pro) | Probably damaging | 1 | 0 | 1 | | 466G>C (p.Gly156Arg) | Probably damaging | 1 | 0 | 1 | | 629T>C (pLeu210Pro) | Probably damaging | 1 | 0 | 1 |
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