Table 3 CBS mutations identified in this family with homocystinuria.
From: Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family
Mutation | Positiona | Exon | Nucleotide | Amino acid | SIFT | PolyPhen | Predictionb | Mutation | Mutaion | Mutation |
|---|---|---|---|---|---|---|---|---|---|---|
Change | change | score | score | typec | Status | presented ind | ||||
L136P | 44486397 | 3 | c.407T > C | L136P | 0 | 1.0 | Damaging | Het | Novel | III:2, III:3, III:4, III:6, II:4, II:6, I:4 |
A158V | 44485784 | 4 | c.473C > T | A158V | 0 | 1.0 | Damaging | Het | Novel | IV:1, III:2, III:3, III:4, III:5, II:3, I:1 |
