NCF2
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.13325T>C
CDS: c.366+2T>C
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay El Kares R et al., 2006
2 Substitutions Genomic: g.27693A>T
CDS: c.1256A>T
AnimoAcid: p.Asn419Ile		 Substitutions Direct sequencing, PCR based assay El Kares R et al., 2006
3 Deletion Genomic: g.764_766delAAG
CDS: c.172_174delAAG
AnimoAcid: p.Lys58del		 Deletion Direct sequencing, PCR based assay Leusen JH et al., 1996
4 Substitutions Genomic: g.4003G>A
CDS: c.233G>A
AnimoAcid: p.Gly78Glu		 Substitutions Direct sequencing, PCR based assay de Boer M et al., 1994
5 Duplications Genomic: g.16333_16334dupAG
CDS: c.399_400dupAG
AnimoAcid: p.Lys133fs		 Duplications Direct sequencing Nunoi H et al., 1995
6 Substitutions Genomic: g.16413A>T
CDS: c.479A>T
AnimoAcid: p.Asp160Val		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Bonizzato A et al., 1997
7 Substitutions Genomic: g.16415A>G
CDS: c.481A>G
AnimoAcid: p.Lys161Glu		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Bonizzato A et al., 1997
8 Substitutions Genomic: g.13261C>T
CDS: c.304C>T
AnimoAcid: p.Arg102X		 Substitutions Direct sequencing Patino PJ et al., 1999
9 Deletion Genomic: g.27479_27483delCTAAG
CDS: c.1169_1173delCTAAG
AnimoAcid: p.Thr390fs		 Deletion Direct sequencing Patino PJ et al., 1999
10 Substitutions Genomic: g.13324G>A
CDS: c.366+1G>A
AnimoAcid: 		Substitutions Direct sequencing Patino PJ et al., 1999
11 Deletion Genomic: g.23591delA
CDS: c.728delA
AnimoAcid: p.Glu243fs		 Deletion Direct sequencing Patino PJ et al., 1999
12 Deletion Genomic: g.647_655delAAGAAGGAC
CDS: c.55_63delAAGAAGGAC
AnimoAcid: p.Lys19_Asp21del		 Deletion Direct sequencing Patino PJ et al., 1999
13 Substitutions Genomic: g.27620C>T
CDS: c.1183C>T
AnimoAcid: p.Arg395Trp		 Substitutions Direct sequencing Patino PJ et al., 1999
14 Substitutions Genomic: g.16317C>T
CDS: c.383C>T
AnimoAcid: p.Ala128Val		 Substitutions Direct sequencing Noack D et al., 1999
15 Deletion Genomic: g.647_655delAAGAAGGAC
CDS: c.55_63delAAGAAGGAC
AnimoAcid: p.Lys19_Asp21del		 Deletion Direct sequencing Noack D et al., 1999
16 Substitutions Genomic: g.27620C>T
CDS: c.1183C>T
AnimoAcid: p.Arg395Trp		 Substitutions Direct sequencing Noack D et al., 1999
17 Substitutions Genomic: g.3966C>T
CDS: c.196C>T
AnimoAcid: p.Arg66X		 Substitutions Direct sequencing Noack D et al., 1999
18 Substitutions Genomic: g.4000G>A
CDS: c.230G>A
AnimoAcid: p.Arg77Gln		 Substitutions Direct sequencing Noack D et al., 1999
19 Substitutions Genomic: g.13255C>T
CDS: c.298C>T
AnimoAcid: p.Gln100X		 Substitutions Direct sequencing Noack D et al., 1999
20 Deletion Genomic: g.23698_23699delAC
CDS: c.835_836delAC
AnimoAcid: p.Thr279fs		 Deletion Direct sequencing Noack D et al., 1999
21 Substitutions Genomic: g.13324G>A
CDS: c.366+1G>A
AnimoAcid: 		Substitutions Direct sequencing Noack D et al., 1999
22 Substitutions Genomic: g.4029T>C
CDS: c.257+2T>C
AnimoAcid: 		Substitutions Dideoxy fingerprinting, Direct sequencing Tanugi-Cholley LC et al., 1995
23 Substitutions Genomic: g.23719G>A
CDS: c.855+1G>A
AnimoAcid: 		Substitutions Dideoxy fingerprinting, SSCP Aoshima M et al., 1996
24 Substitutions Genomic: g.13261C>T
CDS: c.304C>T
AnimoAcid: p.Arg102X		 Substitutions Direct sequencing Wolach B et al., 2008
25 Substitutions Genomic: g.13280A>T
CDS: c.323A>T
AnimoAcid: p.Asp108Val		 Substitutions Direct sequencing Yu G et al., 2008
26 Deletion Genomic: g.647_655delAAGAAGGAC
CDS: c.55_63delAAGAAGGAC
AnimoAcid: p.Lys19_Asp21del		 Deletion Direct sequencing Yu G et al., 2008
27 Substitutions Genomic: g.27620C>T
CDS: c.1183C>T
AnimoAcid: p.Arg395Trp		 Substitutions Direct sequencing Yu G et al., 2008
28 Substitutions Genomic: g.13324G>A
CDS: c.366+1G>A
AnimoAcid: 		Substitutions Direct sequencing Yu G et al., 2008
29 Substitutions Genomic: g.722G>C
CDS: c.130G>C
AnimoAcid: p.Gly44Arg		 Substitutions Direct sequencing Yu G et al., 2008
30 Deletion Genomic: g.27479_27483delCTAAG
CDS: c.1169_1173delCTAAG
AnimoAcid: p.Lys391GlufsX8		 Deletion Direct sequencing Bakri FG et al., 2009
31 Deletion Genomic: g.15724_17103del1380
CDS: c.366+2401_502-527del1380
AnimoAcid: p.Val123_Trp167del		 Deletion Direct sequencing, PCR based assay Gentsch M et al., 2009
32 Substitutions Genomic: g.17733C>T
CDS: c.605C>T
AnimoAcid: p.Ala202Val		 Substitutions Direct sequencing, PCR based assay Koker MY et al., 2009
33 Substitutions Genomic: g.3999C>T
CDS: c.229C>T
AnimoAcid: p.Arg77X		 Substitutions Direct sequencing Koker MY et al., 2009
34 Substitutions Genomic: g.13236C>G
CDS: c.279C>G
AnimoAcid: p.Asp93Glu		 Substitutions Direct sequencing Koker MY et al., 2009
35 Substitutions Genomic: g.13261C>T
CDS: c.304C>T
AnimoAcid: p.Arg102X		 Substitutions Direct sequencing Koker MY et al., 2009
36 Deletion Genomic: g.593_4027del
CDS: c.1_257del
AnimoAcid: p.Met1_Lys86del		 Deletion Direct sequencing, PCR based assay Teimourian S et al., 2010
37 Substitutions Genomic: g.3966C>T
CDS: c.196C>T
AnimoAcid: p.Arg66X		 Substitutions Direct sequencing, PCR based assay Teimourian S et al., 2010
38 Deletion Genomic: g.27660delA
CDS: c.1223delA
AnimoAcid: p.Asp408AlafsX3		 Deletion PCR based assay Honda F et al., 2012
39 Substitutions Genomic: g.25220T>G
CDS: c.1000+2T>G
AnimoAcid: p.[Glu309_Gly334del, Glu309_Lys342del]		 Substitutions Direct sequencing, PCR based assay Roesler J et al., 2012
40 Substitutions Genomic: g.621G>A
CDS: c.29G>A
AnimoAcid: p.Trp10X		 Substitutions Direct sequencing Martel C et al., 2012
41 Deletion Genomic: g.764_766delAAG
CDS: c.172_174delAAG
AnimoAcid: p.Lys58del		 Deletion Direct sequencing Ahlin A et al., 1995
42 Substitutions Genomic: g.13261C>T
CDS: c.304C>T
AnimoAcid: p.Arg102X		 Substitutions Direct sequencing Badalzadeh M et al., 2012
43 Deletion Genomic: g.27348_27349delCA
CDS: c.1038_1039delCA
AnimoAcid: p.Ser347CysfsX34		 Deletion Direct sequencing Badalzadeh M et al., 2012
44 Deletion Genomic: g.?_593-766del
CDS: c.1_174del
AnimoAcid: 		Deletion Direct sequencing Badalzadeh M et al., 2012