Skip to main content
. Author manuscript; available in PMC: 2015 Sep 13.
Published in final edited form as: Blood Cells Mol Dis. 2010 Feb 18;44(4):291–299. doi: 10.1016/j.bcmd.2010.01.009

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° [16,2931,33] 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
a

Number of different families with patients with this mutation (number of alleles carrying this mutation).

b

Not applicable.

c

One patient presumed homozygous for this mutation.

d

Unpublished data from the authors' laboratories.

e

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.

f

Patient is heterozygous for this mutation and for an unidentified mutation in the other allele.

g

Accession number in database at http://www.uta.fi/imt/bioinfo/CYBAbase/.

*

New mutations since ref. [1].

#

Corrected after consultation of the authors.

HHS Vulnerability Disclosure