Table 2.
Summery of Mutations in LEPREL1, SLC39A5 and LRPAP1.
| Chr.position | Gene | Exon | Mutation | Status | Patient | Mutation | SIFT | PolyPhen2 | PROVEAN | Mutation | Note | ExAC |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Taster | Assessor | |||||||||||
| Chr12:56231524 | SLC39A5 | 4 | c.250C > T (p.Arg84Trp) | Het | HM_h16 | DC (0.935) | D (0.004) | Pr.D (0.995) | N (−1.97) | L (1.61) | rs199681035 | 0.0001771 |
| Chr12:56629399 | SLC39A5 | 8 | c.860C > T (p.Pro287Leu) | Het | HM_95 | DC (0.995) | D (0.047) | B (0.231) | N (−0.57) | N (0.555) | Novel | 0.0001895 |
| Chr12:56630190 | SLC39A5 | 9 | c.956G > C (p.Arg319Thr) | Het | HM_71 | P (0.283) | D (0.022) | B (0.174) | N (−0.84) | L (1.09) | Novel | — |
| Chr3:190120600 | LEPREL1 | 1 | c.132C > A (p.Phe44Leu) | Het | HM_101 | DC (0.996) | T (0.191) | B (0.002) | N (−1.58) | L (1.59) | rs367659257 | 0.0001129 |
| Chr3:189972991 | LEPREL1 | 11 | c.1582G > A (p.Ala528Thr) | Het | HM_68 | DC (0.999) | D (0.014) | Pr.D (0.977) | D (−3.55) | M (2.83) | rs199877373 | 0.000132 |
| Chr3:189681799 | LEPREL1 | 14 | c.1982A > G (p.Lys661Arg) | Het | HM_68 | DC (1) | T (0.594) | B (0.000) | N (1.06) | N (−0.22) | Novel | 3.30E-05 |
| Chr4:3514801 | LRPAP1 | 7 | c.962 G > A (p.Arg321His) | Het | HM_h32 | P (0.016) | T (0.17) | Pos.D (0.884) | N (−0.60) | M (2.2) | rs140947105 | 0.00015 |
Notes: Het, heterozygous; Mutation taster (DC, disease-causing; P, polymorphism); SIFT (D, damaging; T, tolerated); PolyPhen2 (Pr.D, probably damaging; pos.D, possible damaging; B, benign); PROVEAN (D, deleterious; N, neutral); MutationAssessor (M, medium; L, low; N, neutral).