Table 1.
Mutations in the p22-phox gene CYBA.
Nucleotide change | Mutation | Amino acid or mRNA change | CGD type | Reference | Families (alleles)a | Accession number(s)g | |
---|---|---|---|---|---|---|---|
g. del>10 kb | Deletion | NAb | A22° | [28] | 1(2) | ||
c.2T>A | Missense | p.Met1Lys | A22? | unpubl. d | 1(2) c | * | |
c.7C>T | Nonsense | p.Gln3X | A22° | [29] unpubl. | 5(10) | H0023 H0026 |
|
c.26G>A | Nonsense | p.Trp9X | A22° | [30] | 1(1) | H0017 | |
c.27G>A | Nonsense | p.Trp9X | A22° | [31] | 1(2) | H0027 | |
c.58+4_+7delAGTG e | Splice site | ins. 79 bp in intron 1 p.Ile20SerfsX77 |
A22° | [31,32] unpubl. | 5(9) | H0028 H0039 |
|
g.exon2_3del | Deletion | p.Ile20ArgfsX6 | A22° | [30] | 1(2) | ||
g.exon2_5del | Deletion | p.Ile20SerfsX68 | A22° | unpubl. | 1(2) c | * | |
c.70G>A | Missense | p.Gly24Arg | A22° | [16,29–31,33] unpubl. | 9(14) | H0021 H0024 H0025 H0028 H0030 H0034 |
|
c.71G>A | Missense | p.Gly24Glu | A22° | [16] | 1(2) | * | |
c.74G>T | Missense | p.Gly25Val | A22° | [30] | 1(1) | H0017 | |
c.77delT | Deletion | p.Ile26ThrfsX48 | A22° | unpubl. | 1(1) | * | |
c.107G>A | Nonsense | p.Trp36X | A22° | [30] | 1(1) | H0021 | |
g.exon3_5del | Deletion | p.Ile43MetfsX68 | A22° | [34] | 1(2) | * | |
g.exon3_6del | Deletion | NA | A22° | [33] | 1(2) | * | |
c.152T>A | Missense | p.Leu51Gln | A22° | unpubl. | 1(1) | * | |
c.155T>C | Missense | p.Leu52Pro | A22° | [30] | 1(2) | H0014 | |
c.158A>T | Missense | p.Glu53Val | A22° | [35] | 1(1) | H0005 | |
c.164C>G | Missense | p.Pro55Arg | A22° | [16] | 1(2) | * | |
c.166dupC | Insertion | p.Arg56ProfsX157 | A22° | [30,33] unpubl. | 5(8) | H0019 H0020 |
|
c.171delG | Deletion | p.Lys58ArgfsX16 | A22° | unpubl. | 1(2) | * | |
c.171dupG | Insertion | p.Lys58GlufsX155 | A22° | [16,35] unpubl. | 5(9) | H0005 H0032 H0036 H0037 |
|
c.173delA # | Deletion | p.Lys58ArgfsX16 | A22° | [34] | 1(2) | H0041 | * |
c.203+1G>T e | Splice site | del. exon 3 p.Ile43_Trp68delinsMet |
A22° | [30] | 1(2) | H0016 | |
c.204–2A>G e | Splice site | del. exon 4? p.Gly69_Leu96del? |
A22° | [36] | 1(2) | * | |
c.223delG # | Deletion | p.Ala75ProfsX3 | A22° | [34] | 1(2) | H0042 | * |
c.246delC | Deletion | p.Phe83LeufsX108 | A22° | [28,30] | 2(3) | H0001 H0015 |
|
c.261C>G | Nonsense | p.Tyr87X | A22° | unpubl. | 1(2) | * | |
c.261C>A | Nonsense | p.Tyr87X | A22° | unpubl. | 1(2) | * | |
c.268C>T | Missense | p.Arg90Trp | A22° | [30] unpubl. | 8(14) | H0018 H0019 H0020 |
|
c.268C>G | Missense | p.Arg90Gly | A22° | unpubl. | 1(2) | * | |
c.269G>A | Missense | p.Arg90Gln | A22° | [28,37] | 2(3) | H0001 H0006 H0007 H0008 |
|
c.269G>C | Missense | p.Arg90Pro | A22° | unpubl. | 1(2) | * | |
c.281A>G | Missense | p.His94Arg | A22° | [37] | 1(2) | H0012 | |
c.287+1G>A e | Splice site | del. exon 4 p.Gly69_Leu96del | A22° | [37] unpubl. | 2(4) | H0009 H0035 |
|
c.287+1G>T e | Splice site | del. exon 4 p.Gly69_Leu96del | A22° | unpubl. | 1(2) | * | |
c.287+2T>C e | Splice site | del. exon 4? p.Gly69_Leu96del? |
A22° | unpubl. | 1(1) f | * | |
c.288–6_296del16 e | Splice site | del. exon5 p.Leu97ArgfsX68 |
A22° | unpubl. | 1(1) | * | |
c.288–15_308del36 e | Splice site | intron4ins179/exon5del21 | A22° | [38] | 1(2) | H0038 | * |
c.288G>T | Splice site | del. exon 5 p.Leu97ArgfsX68 |
A22° | unpubl. | 1(2) | * | |
c.295_301delGTGCCCG | Deletion | p.Val99ProfsX90 | A22° | [13,17,19] unpubl. | 5(10) c | H0040 | * |
c.339C>A | Nonsense | p.Cys113X | A22° | [33] | 1(2) | * | |
c.354C>A | Missense | p.Ser118Arg | A22° | [28,30] unpubl. | 4(8) | H0003 H0010 H0022 |
|
c.369+1G>C e | Splice site | del. exon 5 p.Leu97ArgfsX68 |
A22° | [6,39] | 1(2) | H0002 | |
c.369+1G>A e | Splice site | del exon 5 p.Leu97ArgfsX68 |
A22° | [34] | 1(2) | H0045 H0046 |
* |
c.370G>T | Missense | p.Ala124Ser | A22° | [17] | 1(2) | * | |
c.371C>T | Missense | p.Ala124Val | A22° | [31] | 1(1) | H0030 | |
c.373G>A | Missense | p.Ala125Thr | A22° | [34] | 1(2) | H0047 | * |
c.385G>A | Missense | p.Glu129Lys | A22? | unpubl. | 1(2) | * | |
c.385_388delGAGC | Deletion | p.Glu129SerfsX61 | A22° | [34] | 2(4) | H0043 H0044 |
* |
c.399delC | Deletion | p.Ile134SerfsX57 | A22? | unpubl. | 1(2) c | * | |
c.408delC | Deletion | p.Lys137SerfsX54 # | A22° | [33] | 1(2) | * | |
c.467C>A | Missense | p.Pro156Gln | A22+ | [40] | 1(2) | H0011 | |
c.472_484del | Deletion | p.Pro160AlafsX27 | A22? | [1] | 1(2) c | H0031 | |
c.571_604del | Deletion | p.Thr191ProfsX | A22° | [31] | 1(2) | ||
Mutations in CYBA | |||||||
| |||||||
Number of different alleles | Total number of alleles | ||||||
| |||||||
Deletions | 16 alleles | (29.1%) | 42 alleles | (24.3%) | |||
Nonsense mutations | 7 alleles | (12.7%) | 20 alleles | (11.6%) | |||
Splice site mutations | 11 alleles | (20.0%) | 29 alleles | (16.8%) | |||
Missense mutations | 19 alleles | (34.6%) | 65 alleles | (37.5%) | |||
Insertions | 2 alleles | (3.6%) | 17 alleles | (9.8%) | |||
Total 55 different allelic mutations | Total 87 families with 173 identified alleles in the 96 patients |
Number of different families with patients with this mutation (number of alleles carrying this mutation).
Not applicable.
One patient presumed homozygous for this mutation.
Unpublished data from the authors' laboratories.
Position of introns in CYBA: intron 1 c.58_59; intron 2 c.128_129; intron 3 c.203_204; intron 4 c.287_288; intron 5 c.369_370.
Patient is heterozygous for this mutation and for an unidentified mutation in the other allele.
Accession number in database at http://www.uta.fi/imt/bioinfo/CYBAbase/.
New mutations since ref. [1].
Corrected after consultation of the authors.