HAX1
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Insertion Genomic: g.850_851insA
CDS: c.130_131insA
AnimoAcid: p.Trp44X
Insertion Fluorescent sequencing Klein C et al., 2007
2 Substitutions Genomic: g.976C>T
CDS: c.256C>T
AnimoAcid: p.Arg86X
Substitutions Fluorescent sequencing Klein C et al., 2007
3 Substitutions Genomic: g.2603C>T
CDS: c.568C>T
AnimoAcid: p.Gln190X
Substitutions Fluorescent sequencing Carlsson G et al., 2008
4 Substitutions Genomic: g.851G>A
CDS: c.131G>A
AnimoAcid: p.Trp44X
Substitutions Fluorescent sequencing Carlsson G et al., 2008
5 Insertion Genomic: g.850_851insA
CDS: c.130_131insA
AnimoAcid: p.Trp44X
Insertion Denaturing HPLC, Restriction enzyme analysis Smith BN et al., 2009
6 Duplications Genomic: g.845dupG
CDS: c.125dupG
AnimoAcid: p.Ser43LeufsX10
Duplications Denaturing HPLC Smith BN et al., 2009
7 Substitutions Genomic: g.1323G>C
CDS: c.428G>C
AnimoAcid: p.Gly143Ala
Substitutions Denaturing HPLC Smith BN et al., 2009
8 Deletion Genomic: g.811delG
CDS: c.91delG
AnimoAcid: p.Glu31LysfsX53
Deletion Denaturing HPLC, Restriction enzyme analysis Smith BN et al., 2009
9 Duplications Genomic: g.893dupC
CDS: c.173dupC
AnimoAcid: p.Glu59X
Duplications Direct sequencing Fahimzad A et al., 2008
10 Substitutions Genomic: g.976C>T
CDS: c.256C>T
AnimoAcid: p.Arg86X
Substitutions Fluorescent sequencing Ishikawa N et al., 2008
11 Deletion Genomic: g.1271_1329del
CDS: c.376_434del
AnimoAcid: p.Arg126fsX128
Deletion Fluorescent sequencing Ishikawa N et al., 2008
12 Deletion Genomic: g.900delA
CDS: c.180delA
AnimoAcid: p.Glu60AspfsX25
Deletion Direct sequencing Germeshausen M et al., 2008
13 Duplications Genomic: g.1325dupG
CDS: c.430dupG
AnimoAcid: p.Val144GlyfsX5
Duplications Direct sequencing Germeshausen M et al., 2008
14 Deletion Genomic: g.1263_1276del14
CDS: c.368_381del14
AnimoAcid: p.Gln123LeufsX4
Deletion Direct sequencing Germeshausen M et al., 2008
15 Insertion Genomic: g.850_851insA
CDS: c.130_131insA
AnimoAcid: p.Trp44X
Insertion Direct sequencing Germeshausen M et al., 2008
16 Substitutions Genomic: g.976C>T
CDS: c.256C>T
AnimoAcid: p.Arg86X
Substitutions Direct sequencing Matsubara K et al., 2007
17 Insertion Genomic: g.850_851insA
CDS: c.130_131insA
AnimoAcid: p.Trp44X
Insertion Direct sequencing Mamishi S et al., 2009
18 Insertion Genomic: g.1358_1359insC
CDS: c.463_464insC
AnimoAcid: p.Gln155ProfsX14
Insertion Direct sequencing Faiyaz-Ul-Haque M et al., 2010
19 Duplications Genomic: g.1325dupG
CDS: c.430dupG
AnimoAcid: p.Val144GlyfsX5
Duplications Direct sequencing Xue SL et al., 2012
20 Deletion Genomic: g.2690_2694del5
CDS: c.655_659del5
AnimoAcid: p.Pro219TrpfsX13
Deletion Direct sequencing Xue SL et al., 2012