Table 3.
MCCA and MCCB Mutations in Patients with MCG
|
Mutation inb |
||||||
| Patient (Origin) | Groupa | MCCα [3H]-Biotin Labeling? | MCCA | MCCB | Nucleotide Changec | Predicted Consequence(s) |
| 15468 (Spain) | CGB | Yes | C167R | MCCB c. 499T→C | Cys167Arg substitution in MCCβ | |
| 15469 (Argentina) | CGB | Yes | A218T | MCCB c. 652G→A | Ala218Thr substitution in MCCβ | |
| 15626 (United States) | … | Yes | D172fs | MCCB c. 517insT | MCCβ sequence frameshifted after residue 172 | |
| 15628 (United States) | … | Yes | D172fs | MCCB c. 517insT | MCCβ sequence frameshifted after residue 172 | |
| 15767 (United States) | CGB | Yes | IVS3+5→T | MCCB c. 281+5G→T | MCCB exon 3 skipping, frameshift after residue 66 | |
| 15765 (United States) | CGA | No | M325R | MCCA c.974T→G | Met325Arg substitution in MCCα | |
| 15766 (United States) | CGA | Yes | R385S | MCCA c.1155A→C | Arg385Ser substitution in MCCα | |
a
An ellipsis (…) denotes that the individual was not classified.
b
Found in apparent homozygosis (or in a hemizygosis-like situation; see the text). Missense mutations, which are underlined, were absent from 100 normal chromosomes.
c
Nucleotide numbering referred to the A in the initiation ATG codons of the cDNA sequences in figure 1.