Table 2.
CYBB Mutations Detected by High-Resolution Melting
| Location | c.* | p. | No. M† | No. F† | Oxidase activity | Figure |
|---|---|---|---|---|---|---|
| Exon 1 | 1A>G | M1V | 1 | 0 | ||
| Intron 1 | 45 + 1G>T | 1 | 0 | None | ||
| Exon 2 | 90C>A‡ | Y30X | 1 | 0 | None | |
| 134T>G | L45R | 1 | 0 | None | ||
| Exon 3 | 177C>G | C59W | 1 | 0 | ||
| 190T>C | C64R | 1 | 0 | |||
| 252G>A | A84A | 1 | 3 | Decreased | S2§ | |
| 1 | 0 | None | S2§ | |||
| Intron 3 | 252 + 5G>A | 2 | 2 | Decreased | 3 | |
| Intron 4 | 338-2A>G | 1 | 1 | None | ||
| Exon 5 | 466G>A | A156T | 1 | 0 | ||
| 479dupT | N162EfsX2 | 1 | 0 | |||
| Intron 5 | 483 + 3A>T | 1 | 0 | |||
| Exon 6 | 636delT | F212LfsX1 | 1 | 2 | None | |
| Intron 6 | 674 + 4A>G | 1 | 0 | None | ||
| Exon 7 | 676C>T | R226X | 1 | 0 | None | |
| 1 | 1 | None | ||||
| 1 | 0 | None | ||||
| 703_704delAG | S235FfsX4 | 1 | 1 | None | ||
| 730T>A | C244S | 1 | 1 | Decreased | ||
| 731G>A | C244Y | 1 | 0 | |||
| 742dupA | I248NfsX35 | 1 | 0 | |||
| 755delG | G252EfsX2 | 0 | 1 | |||
| Exon 8 | 868C>T | R290X | 1 | 0 | None | |
| 897G>A | K299K | 1 | 0 | None | ||
| Intron 8 | 897 + 1G>T | 1 | 0 | |||
| 897 + 1G>A | 1 | 0 | None | |||
| Exon 9 | 1016C>A | P339H | 2 | 2 | None | 2 |
| 1032delC | A345PfsX40 | 1 | 0 | |||
| 1061A>G | H354R | 0 | 1¶ | |||
| Exon 10 | 1166G>C | G389A | 1 | 0 | ||
| Intron 11 | 1461 + 2delT | 1 | 0 | None | ||
| 1462-2A>C | 1 | 0 | None | |||
| Exon 13 | 1661_1662delCT | S554X | 1 | 0 | None | |
| Exons 6-8 | Deletion | 1 | 0 | None | 4 | |
| Exons 7-13 | Deletion | 1 | 0 | |||
| Exons 1-13 | Deletion | 1 | 0 | None | ||
| Exons 1-13 | Deletion | 1 | 0 | None | ||
| Exons 1-13 | Deletion | 1 | 0 | |||
| Exons 1-13 | Deletion | 1 | 0 | None |
Each family is shown on a separate line. Clinical samples are shown in bold and validation samples are not bolded. Novel mutations (previously unreported) are shown in italics.
*
Coding (c.) sequence numbering starting with the first base of the ATG initiation codon using NG_00965.1 as the reference sequence.
†
Number of affected males (M) and number of heterozygous females (F) studied in each family.
‡
This sample also had an exon 12 variant, c.1551T>A (p.D517E) previously reported as a benign variant.10
§
Supplemental Figure S2 (see http://jmd.amjpathol.org).
¶
Affected female.