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Nucleotide Changes Detected by Mutation Analyses in the CRYM Gene
|
Allele Frequency |
|||||
| Change | Exon/Intron | Amino Acid | Family No. | in Patients | in Control Subjects |
| IVS1-116C→T | Intron1 | 90/364 | Not done | ||
| IVS1-119G→A | Intron 1 | 3/364 | Not done | ||
| IVS4+38C→G | Intron 4 | 84/336 | .12a | ||
| 864G→C | Exon 7 | Thr288Thr | 94/330 | Not done | |
| 941A→C | Exon 8 | Lys314Thr | 12 | 1/384 | 0/192 |
| 945A→T | Exon 8 | X315Tyr → extended protein | 1 | 1/384 | 0/192 |
See “A Database of Japanese Single Nucleotide Polymorphisms” Web site.
