Research Article
Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients
Table 2
Variants identified by sequencing the exons of EFHC1 in Pakistani JME patients.
| No. | Region | NCBI dbSNP ID | Nucleotide change | Amino acid change | Molecular consequence | Genotype counts/(no. of subjects) | JME probands | Control subjects |
| 1 | Exon 3 | rs3804506 | | R159W | Missense | 19/66 | 11/108 | 2 | Intron 5 | rs1581829739 | | N/A | Unknown | 1/66 | 0/108 | 3 | Exon 8 | rs764251038 | | V460A | Missense | 3/66 | 0/108 | 4 | Exon 8 | rs1581846971 | | P436P | Synonymous | 2/66 | 0/108 |
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