Table 2.
Novel sequence variants identified in PC gene and relative PC protein ratio
| ID | Type | DNA1 | Protein2 | Protein amount3 | PC Activity4 |
|---|---|---|---|---|---|
| 1 | C | c. [796T>G; =] + [=; 2114C>A, =] * | p. [S266A; =] + [=; S705X, =] | 86 ± 5.8% | 1.9% |
| 2 | B | c. [1892G>A, =; =] + [=; 2493_2494delGT, =] | p. [R631Q, =; =] + [=; V831VfsX832,=] | 8 ± 0.2% | 0 |
| 3 | B | c. [321+1G>T] + [321+1G>T] | p. [V105_K107del] + [V105_K107del] | 3 ± 1.4% | 0 |
| 4 | B | c.[806G>A] + [806G>A] | p. [R269Q] + [R269Q] | 2 ± 0.1% | 5% |
| 5 | B | c. [467G>A; 496G>A; 1892G>A, =; 2540C>T, =] + [467G>A; 496G>A; =; =] | p. [R156Q; V166I; R631Q, =; A847V, =] + [R156Q; V166I; =; =] | 44 ± 2.8% | 1.9% |
| 6 | A | c. [184C>T; 1892G>A ; 2540C>T] + [=; 1892G> A, =; 2540C> T, =] | p. [R62C; R631Q; 847V] + [=; R631Q, =; A847V, =] | 49 ± 17.6% | 6% |
| 7 | B | c. [1892G>A; 2540C> T]+ [1892G>A, =; 2540C> T, = ]† |
p. [R631Q; A847V] + [R631Q, =; A847V, =] | 17 ± 8.2% | 17% |
| 8 | C | c. [1705A>G; =] + [=; 3499–3500delCT] | p.[T569A; =] + [=; L1137VfsX1170] | N/A | 1% |
| P1 | A | c. [434T>C] + [434T>C] | p. [V145A] + [V145A] | Barely detectable | 7–25% |
| P2 | A | c. [1351C>T] + [1351C>T] | p. [R451C] + [R451C] | ~100% | 7% |
| P3 | A | c. [1828G>A] + [1828G>A] | p. [A610>T] + [A610T] | ~100% | 1–4% |
| P4 | A | c. [2229G>T] + [2229G>T] | p. [M743I] + [M743I] | ~100% | 1–4% |
| P5 | B | c. [2493_2494delGT] + [2473+2-2473+5delTGCA] | p. [V831VfsX832] + [E825GfsX846] | ~0 | 1–4% |
The nomenclature follows the recommendations for the description of sequence variants (www.hgvs.org/mutnomen/recs.html;http://www.hgvs.org/mutnomen/; http://www.hgvs.org/mutnomen/checklist.html; Hum Mutat 22:181–182, 2003; http://dx.doi.org/10.1002/humu.10262; Hum Mut 15: 7–12, 2000). The coding sequence is NM_000920. 3. Nucleotide +1 is the A of the ATG translation initiation codon. c. [2114C>A, =]
indicates the mosaic state of this allele, more ‘2114C>A’ than ‘=’ (wild-type) in the total DNA level. c. [1892G>A, =; 2540C> T, =]
indicates the mosaic state of the two substitutions 1892G>A and 2549C>T in this allele, which are more abundant than the ‘=’ (wild-type).
Note, changes are deduced based on the findings in DNA level. “0”, indicates no protein; “=”, indicates WT protein synthesized.
The PC /MCC +PCC ratios in PC patients are normalized to the ratio in normal control (Mean ± SD) (Fig. 4).
the PC activity is expressed as the ratio of patient/ control.