Table 2. Spectrum of the SLC25A13 mutation/variations identified in the CD patients and their relative frequency.
| No. | Location | Systematic name (DNA level) | Amino acids | Types | Relative frequency (%) | P | |||
|---|---|---|---|---|---|---|---|---|---|
| North(n = 55) | Border(n = 81) | South(n = 392) | China(n = 528) | ||||||
| 01 | Ex1 | c.2T > C | p.Met1_Phe34del | Pathogenic SNP※ | 0.00 | 0.00 | 0.77 | 0.57 | 1.000 |
| 02 | Ex2_3 | r.16-212dup | Unclear | Aberrant transcript▲ | 0.00 | 0.00 | 0.26 | 0.19 | 1.000 |
| 03 | Ex3 | c.72T > A | p.Y24X | Nonsense | 0.00 | 1.23 | 0.00 | 0.19 | 0.258 |
| 04 | Ex3 | c.103A > G* | p.M35V | Missense | 0.00 | 0.00 | 0.26 | 0.19 | 1.000 |
| 05 | Ex4 | c.265delG | p.D89fs94X | Deletion | 0.00 | 0.00 | 0.26 | 0.19 | 1.000 |
| 06 | Ex5 | c.329−1687_c.468 + 3865del | p.E110fs127X | Deletion | 0.00 | 0.00 | 0.26 | 0.19 | 1.000 |
| 07 | Ex5 | [c.329−154_c.468 + 2352del2646; c.468 + 2392_c.468 + 2393ins23]* | p.E110fs127X | Complex | 0.00 | 1.23 | 0.00 | 0.19 | 0.258 |
| 08 | Ex5 | IVS4ins6kb | p.E110fs127X | Insertion | 1.82 | 2.47 | 1.28 | 1.52 | 0.310 |
| 09 | Ex6 | c.475C > T | p.Q159X | Nonsense | 0.00 | 1.23 | 0.00 | 0.19 | 0.258 |
| 10 | Ex6 | c.493C > T* | p.Q165X | Nonsense | 0.00 | 1.23 | 0.00 | 0.19 | 0.258 |
| 11 | Ex6 | c.495delA | p.Q165fs195X | Deletion | 0.00 | 1.23 | 0.00 | 0.19 | 0.258 |
| 12 | Ex6 | c.550C > T | p.R184X | Nonsense | 0.00 | 1.23 | 0.51 | 0.57 | 0.592 |
| 13 | IVS6 | IVS6 + 5G > A | P.V260fs212X | Splice-site | 3.64 | 8.64 | 7.91 | 7.58 | 0.494 |
| 14 | Ex7 | c.754G > A | p.E252K | Splice-site | 1.82 | 0.00 | 0.26 | 0.38 | 0.221 |
| 15 | IVS7 | c.755−1G > C* | p.252fs269X | Deletion | 1.82 | 0.00 | 0.00 | 0.19 | 0.104 |
| 16 | Ex8 | c.775C > T | p.Q259X | Nonsense | 0.00 | 2.47 | 0.00 | 0.38 | 0.034 |
| 17 | Ex8 | c.790G > A | p.V264I | Missense | 0.00 | 0.00 | 0.26 | 0.19 | 1.000 |
| 18 | Ex8 | c.847G > T | p.G283X | Nonsense | 0.00 | 0.00 | 0.26 | 0.19 | 1.000 |
| 19 | Ex8 | c.845_c.848 + 1delG* | p.D283fsX285 | Deletion | 0.00 | 0.00 | 0.26 | 0.19 | 1.000 |
| 20 | Ex9 | c.851_854del4 | p.R284fs286X | Deletion | 27.27 | 44.44 | 65.56 | 58.33 | 0.000 |
| 21 | Ex9 | c.933_c.933 + 1insGCAG* | p.A312fsX317 | Insertion | 1.82 | 0.00 | 0.00 | 0.19 | 0.104 |
| 22 | Ex10 | c.955C > T | p.R319X | Nonsense | 3.64 | 0.00 | 0.51 | 0.76 | 0.090 |
| 23 | Ex10 | c.998G > A | p.G333D | Missense | 0.00 | 0.00 | 0.26 | 0.19 | 1.000 |
| 24 | Ex11 | c.1019_1177 + 893del | p.340_392del | Deletion | 1.82 | 0.00 | 0.00 | 0.19 | 0.104 |
| 25 | Ex11 | c.1048G > A | p.D350N | Missense | 0.00 | 0.00 | 1.02 | 0.76 | 1.000 |
| 26 | Ex11 | c.1063C > G | p.R355G | Missense | 0.00 | 0.00 | 0.51 | 0.38 | 1.000 |
| 27 | Ex11 | c.1064G > A | p.R355Q | Missense | 0.00 | 0.00 | 0.51 | 0.38 | 1.000 |
| 28 | Ex11 | c.1078C > T | p.R360X | Nonsense | 3.64 | 0.00 | 0.26 | 0.57 | 0.041 |
| 29 | Ex11 | c.1092_1095delT | p.F365fs407X | Deletion | 1.82 | 0.00 | 0.51 | 0.57 | 0.337 |
| 30 | IVS11 | IVS11 + 1G > A | p.340_392del | Splice-site | 5.45 | 2.47 | 0.51 | 1.33 | 0.008 |
| 31 | Ex12 | c.1215G > T | p.K405N | Missense | 1.82 | 0.00 | 0.00 | 0.19 | 0.104 |
| 32 | Ex13 | c.1231G > A | p.V411M | Missense | 0.00 | 0.00 | 0.26 | 0.19 | 1.000 |
| 33 | Ex14 | c.1364G > T | p.R455L | Missense | 3.64 | 0.00 | 0.00 | 0.38 | 0.008 |
| 34 | Ex14 | c.1381G > T* | p.E461X | Nonsense | 1.82 | 0.00 | 0.00 | 0.19 | 0.104 |
| 35 | Ex14 | c.1399C > T | p.R467X | Nonsense | 0.00 | 6.17 | 0.77 | 1.52 | 0.007 |
| 36 | Ex14 | c.1452 + 1G > A* | p.A438_K484del | Splice-site | 0.00 | 0.00 | 0.26 | 0.19 | 1.000 |
| 37 | Ex16 | c.1622C > A | p.A541D | Missense | 0.00 | 1.23 | 0.00 | 0.19 | 0.258 |
| 38 | Ex16 | c.1638_1660dup | p.A554fs570X | Duplication | 16.36 | 7.41 | 7.65 | 8.52 | 0.089 |
| 39 | Ex16 | c.1706_1707delTA* | p.S331fsX363 | Deletion | 0.00 | 1.23 | 0.00 | 0.19 | 0.258 |
| 40 | IVS16 | IVS16ins3kb | p.A584fs585X | Insertion | 20.00 | 16.05 | 7.40 | 10.04 | 0.002 |
| 41 | Ex17 | c. 1775A > C | p.Q592P | Missense | 0.00 | 0.00 | 0.26 | 0.19 | 1.000 |
| 42 | Unknown | 1.82 | 0.00 | 1.28 | 1.14 | 0.478 | |||
| Total | 100.00 | 100.00 | 100.00 | 100.00 | |||||