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Table 3. PC Genotypes and PC Level and Activity

Case
ID#
PC
Type
DNA Nucleotide 1 ChangeProtein Amino Acid Change 2PC Amount 3PC Activity 4
1Cc.[796T>G; =] +
[=; 2114C>A, =]
p.[S266A; =] +
[=; S705X, =]
86%1.9%
2Bc.[1892G>A, =; =] +
[=; 2493_2494delGT, =]
p.[R631Q, =; =] +
[=; V831Vfs*832,=]
8%0
3Bc.[321+1G>T] + [321+1G>T]p.[V105_K107del] +
[V105_K107del]
3%0
4Bc.[806G>A] + [806G>A] p.[R269Q] + [R269Q]2%5%
5Bc.[467G>A; 496G>A; 1892G>A, =; 2540C>T, =] +
[467G>A; 496G>A; =; =]
p.[R156Q; V166I; R631Q, =; A847V, =] +
[R156Q; V166I; =; =]
44%1.9%
6Ac.[184C>T; 1892G>A ; 2540C>T] + [=; 1892G> A, =; 2540C> T, =] p.[R62C; R631Q; 847V] + [=; R631Q, =; A847V, =]49%6%
7Bc.[1892G>A; 2540C>T] +
[1892G>A, =; 2540C>T, =] 6
p.[R631Q; A847V] +
[R631Q, =; A847V, =]
17%17%
8Cc.[1705A>G; =] +
[=; 3409-3410delCT]
p.[T569A; =] +
[=; L1137Vfs*1170]
N/A1%
5Ac.[434T>C] + [434T>C]p.[V145A] + [V145A]Barely detectable7%-25%
10 5Ac.[1351C>T] + [1351C>T]p.[R451C] + [R451C]~100%7%
11 5Ac.[1828G>A] + [1828G>A]p.[A610>T] + [A610T]~100%1%-4%
12 5Ac.[2229G>T] + [2229G>T]p.[M743I] + [M743I]~100%1%-4%
13 5Bc.[2493_2494delGT] +
[2473+2-2473+5delTGCA]
p.[V831Vfs*832] +
[E825Gfs*846]
~01%-4%

Adapted from Wang et al [2008]

1. Nomenclature follows the recommendations for the description of sequence variants [www​.hgvs.org/mutnomen/recs.html, www​.hgvs.org/mutnomen, www​.hgvs.org/mutnomen/checklist.html [den Dunnen & Antonarakis 2000, den Dunnen & Paalman 2003]. The coding sequence is NM_000920​.3. Nucleotide +1 is the A of the ATG translation initiation codon. In brief, nucleotide changes in a single allele are listed between brackets as c.[434T>C] and changes in each allele as c.[434T>C] + [434T>C]. Nomenclature for mosaic cases is complex. Two different nucleotides found at one position on one chromosome are described as c.[2114C>A, =] (where “=” indicates the normal variant); more than two different substitutions are separated by a semicolon as c.[796T>G; =] + [=; 2114C>A, =]. Refer to www​.hgvs.org/mutnomen/examplesDNA.html for more information.

2. Note: Changes are deduced based on the findings in DNA level. “0” indicates no protein; “=” indicates WT protein synthesized. The single-letter abbreviation for amino acids is used in this table; see Quick Reference for an explanation. Nomenclature for amino acid changes follows the same general format as described above for nucleotide changes.

3. The PC /MCC +PCC ratios in individuals with PC are normalized to the ratio in normal control.

4. The PC activity is expressed as the ratio of patient/control.

5. #10 and #13 were reported by Carbone et al [1998] and Carbone et al [2002]; #11 and #12 were reported by Wexler et al [1998].

6. Nomenclature indicates the mosaic state of the two substitutions 1892G>A and 2549C>T in this allele. Together, with the other allele, these substitutions are more abundant than the ‘=’ (wild-type) in this individual.

From: Pyruvate Carboxylase Deficiency

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