Table 5.
aDifferent ACADM allele findings of the 221 study subjects
| Allele | Genotype Category Assigned | Reference |
|---|---|---|
| bc.985A>G (p.K329E or p.K304E) | A | (21) (22) |
| c.233T>C | B | (23) (24) |
| c.1102_1105delTTAG | B | (25) (26) |
| c.734C>T(p.S245L) | B | (23) (25) |
| c.1238G>A (p.R413H) | B | (25) |
| c.928G>A | B | (23) |
| c.362 C>T | B | (23) (27) |
| c.347G>A | B | (28) |
| cc.799G>A | B | (29) |
| N=2 additional different deletions, not found by published literature search, were recorded in the IBEM-IS | B | |
| c.127 G>A (p.E43K) | C | (25) |
| c.797A>G | C | (25) |
| c.1207A>G | C | (25) |
| c.600-18G>A | C | (25) (31) |
| c.554T>C | C | (25) |
| c.443G>A | C | (25) |
| c.757G>A | C | (25) |
| c.1115C>A (p.A372D) | C | (25) |
| c.526G>A | C | (25) |
| c.(−34)T>C | C | (25) |
| c.558T>A | C | (4) |
| dc.199T>C (Y67H; Y42H) | C | (23) |
| c.387+1delG | C | (30) |
| c.157C>T | C | (32) |
| c.583G>A | C | (33) |
| c.728G>A | C | (4) |
| c.617G>T (p.R206L) | C | (30) |
| c.447 G>A | C | (29) (34) |
| c.250C>T (p.L84F) | C | (25) |
| c.92G>A | C | (35) |
| N=28 additional different allele findings, not found by published literature search, were recorded in the IBEM-IS | C |
a
Excludes subjects with empty and indecipherable entries in the allele data fields (genotype category D)
b
Frequency of genotype category A allele is 231
c
Most frequently appearing genotype category B allele (n=6)
d
Most frequently appearing genotype category C allele (n=14).