Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Mutations in MFN2

Name c.134A>G
Alias Gln45Arg
Description Point mutation in coding region causing an amino acid substitution
Codon Change From AGC to GGC
Phenotype CMT2
htz/hmz htz
Family History D

Bienfait et al., 2007
References

Genomic cDNA Protein
Observed c.134A>G
Deduced c.134A>G Q45R
Region EX3 CDS
Date Added: 08-Jun-07 ID: 876

Name c.205G>T
Alias Val69Phe
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GTT to TTT
Phenotype CMT2 + tremor, fatigue
htz/hmz htz
Family History AD

Züchner et al., 2004
References

Genomic cDNA Protein
Observed c.205G>T
Deduced c.205G>T V69F
Region EX4 CDS
Date Added: 16-Apr-04 ID: 387

Name c.227T>C
Alias Leu76Pro
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CTG to CCG
Phenotype CMT2
htz/hmz htz
Family History D

Züchner et al., 2004
Verhoeven et al., 2006
References

Genomic cDNA Protein
Observed c.227T>C
Deduced c.227T>C L76P
Region EX4 CDS
Date Added: 16-Apr-04 ID: 383

Name c.275T>C
Alias Leu92Pro
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CTG to CCG
Phenotype CMT2
htz/hmz htz
Family History de novo

Chung et al., 2006
Verhoeven et al., 2006
References

Genomic cDNA Protein
Observed c.275T>C
Deduced c.275T>C L92P
Region EX4 CDS
Date Added: 23-May-06 ID: 784

Name c.280C>T
Alias Arg94Trp
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGG to TGG
Phenotype CMT2 (+ optic atrophy + migraine)
htz/hmz htz
Family History de novo

Züchner et al., 2004
Chung et al., 2006
Verhoeven et al., 2006
Züchner et al., 2006
Cho et al., 2007
References

Genomic cDNA Protein
Observed c.280C>T
Deduced c.280C>T R94W
Region EX4 CDS GTPase
Date Added: 16-Apr-04 ID: 391

Name c.281G>A
Alias Arg94Gln
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGG to CAG
Phenotype CMT2 + tremor
htz/hmz htz
Family History de novo

Züchner et al., 2004
Kijima et al., 2005
Verhoeven et al., 2006
Neusch et al., 2007
References

Genomic cDNA Protein
Observed c.281G>A
Deduced c.281G>A R94Q
Region EX4 CDS GTPase
Date Added: 16-Apr-04 ID: 386

Name c.299C>G
Alias Ala100Gly
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GCT to GGT
Phenotype CMT2
htz/hmz htz
Family History D

Verhoeven et al., 2006
References

Genomic cDNA Protein
Observed c.299C>G
Deduced c.299C>G A100G
Region EX4 CDS
Date Added: 23-May-06 ID: 785

Name c.314C>T
Alias Thr105Met
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ACG to ATG
Phenotype CMT2 + ataxia, scoliosis
htz/hmz htz
Family History de novo

Züchner et al., 2004
Lawson et al., 2005
Chung et al., 2006
References

Genomic cDNA Protein
Observed c.314C>T
Deduced c.314C>T T105M
Region EX5 CDS GTPase
Date Added: 16-Apr-04 ID: 390

Name c.368C>T
Alias Pro123Leu
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CCC to CTC
Phenotype CMT2
htz/hmz htz
Family History D

Verhoeven et al., 2006
References

Genomic cDNA Protein
Observed c.368C>T
Deduced c.368C>T P123L
Region EX5 CDS GTP
Date Added: 23-May-06 ID: 786

Name c.380G>A
Alias Gly127Asp
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GGC to GAC
Phenotype CMT2
htz/hmz htz
Family History de novo

Chung et al., 2006
References

Genomic cDNA Protein
Observed c.380G>A
Deduced c.380G>A G127D
Region EX5 CDS GTPase
Date Added: 11-Dec-06 ID: 817

Name c.380G>T
Alias Gly127Val
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GGC to GTC
Phenotype CMT2
htz/hmz htz
Family History -

Engelfried et al., 2006
References

Genomic cDNA Protein
Observed c.380G>T
Deduced c.380G>T G127V
Region EX5 CDS GTPase
Date Added: 14-Feb-07 ID: 839

Name c.493C>G
Alias His165Asp
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CAT to GAT
Phenotype CMT2 + pyramidal signs
htz/hmz htz
Family History AD

Zhu et al., 2005
References

Genomic cDNA Protein
Observed c.493C>G
Deduced c.493C>G H165D
Region EX6 CDS GTPase
Date Added: 14-Feb-07 ID: 844

Name c.493C>T
Alias His165Tyr
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CAT to TAT
Phenotype CMT2
htz/hmz htz
Family History D

Verhoeven et al., 2006
References

Genomic cDNA Protein
Observed c.493C>T
Deduced c.493C>T H165Y
Region EX6 CDS GTP
Date Added: 23-May-06 ID: 788

Name c.494A>G
Alias His165Arg
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CAT to CGT
Phenotype CMT2
htz/hmz htz
Family History AD

Chung et al., 2006
Verhoeven et al., 2006
Cho et al., 2007
References

Genomic cDNA Protein
Observed c.494A>G
Deduced c.494A>G H165R
Region EX6 CDS GTPase
Date Added: 23-May-06 ID: 787

Name c.617C>T
Alias Thr206Ile
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ACC to ATC
Phenotype CMT2 + optic atrophy
htz/hmz htz
Family History de novo

Verhoeven et al., 2006
Züchner et al., 2006
References

Genomic cDNA Protein
Observed c.617C>T
Deduced c.617C>T T206I
Region EX7 CDS GTPase
Date Added: 12-Jun-06 ID: 797

Name c.638T>C
Alias Ile213Thr
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ATT to ACT
Phenotype CMT2
htz/hmz htz
Family History AD

Lawson et al., 2005
References

Genomic cDNA Protein
Observed c.638T>C
Deduced c.638T>C I213T
Region EX7 CDS GTPase
Date Added: 12-Dec-06 ID: 822

Name c.669T>A
Alias Phe223Leu
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TTT to TTA
Phenotype CMT1
htz/hmz htz
Family History familial

Kijima et al., 2005
References

Genomic cDNA Protein
Observed c.669T>A
Deduced c.669T>A F223L
Region EX7 CDS GTPase
Date Added: 24-Mar-05 ID: 715

Name c.707C>T
Alias Thr236Met
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ACG to ATG
Phenotype CMT2
htz/hmz htz
Family History isolated

Kijima et al., 2005
References

Genomic cDNA Protein
Observed c.707C>T
Deduced c.707C>T T236M
Region EX7 CDS GTPase
Date Added: 24-Mar-05 ID: 716

Name c.730G>A
Alias Val244Met
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GTG to ATG
Phenotype CMT2
htz/hmz htz
Family History isolated

Kijima et al., 2005
References

Genomic cDNA Protein
Observed c.730G>A
Deduced c.730G>A V244M
Region EX8 CDS GTPase
Date Added: 24-Mar-05 ID: 717

Name c.[748C>T]+[1198C>T]
Alias Arg250Trp+Arg400X
Description Point mutation in coding region causing an amino acid substitution + Point mutation in coding region causing a stop mutation
Codon Change From [CGG]+[CGA] to [TGG]+[TGA]
Phenotype CMT2
htz/hmz compound htz
Family History unknown

Verhoeven et al., 2006
References

Genomic cDNA Protein
Observed c.[748C>T]+[1198C>T]
Deduced c.[748C>T]+[1198C>T] R250W+R400X
Region EX8+EX12 CDS GTP+-
Date Added: 23-May-06 ID: 789

Name c.749G>A
Alias Arg250Gln
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGG to CAG
Phenotype CMT2
htz/hmz htz
Family History unknown

Verhoeven et al., 2006
References

Genomic cDNA Protein
Observed c.749G>A
Deduced c.749G>A R250Q
Region EX8 CDS GTP
Date Added: 29-May-06 ID: 790

Name c.751C>G
Alias Pro251Ala
Description Point mutation in coding region causing an amino acid substitution
Codon Change From Cca to GCA
Phenotype CMT2 + tremor
htz/hmz htz
Family History AD

Züchner et al., 2004
References

Genomic cDNA Protein
Observed c.751C>G
Deduced c.751C>G P251A
Region EX8 CDS GTPase
Date Added: 16-Apr-04 ID: 385

Name c.787T>C
Alias Ser263Pro
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TCT to CCT
Phenotype CMT2
htz/hmz htz
Family History AD

Chung et al., 2006
Cho et al., 2007
References

Genomic cDNA Protein
Observed c.787T>C
Deduced c.787T>C S263P
Region EX8 CDS
Date Added: 11-Dec-06 ID: 818

Name c.818T>G
Alias Val273Gly
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GTG to GGG
Phenotype CMT2
htz/hmz htz
Family History AD

Lawson et al., 2005
References

Genomic cDNA Protein
Observed c.818T>G
Deduced c.818T>G V273G
Region EX9 CDS GTPase
Date Added: 12-Dec-06 ID: 821

Name c.821G>A
Alias Arg274Gln
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGG to CAG
Phenotype CMT2
htz/hmz htz
Family History -

Züchner et al., 2004
References

Genomic cDNA Protein
Observed c.821G>A
Deduced c.821G>A R274Q
Region EX9 CDS GTPase
Date Added: 16-Apr-04 ID: 389

Name c.827A>G
Alias Gln276Arg
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CAG to CGG
Phenotype CMT2 + optic atrophy
htz/hmz htz
Family History D

Züchner et al., 2006
References

Genomic cDNA Protein
Observed c.827A>G
Deduced c.827A>G Q276R
Region EX9 CDS
Date Added: ID: 798

Name c.830A>G
Alias His277Arg
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CAC to CGC
Phenotype CMT2
htz/hmz htz
Family History D

Verhoeven et al., 2006
References

Genomic cDNA Protein
Observed c.830A>G
Deduced c.830A>G H277R
Region EX9 CDS
Date Added: 29-May-06 ID: 791

Name c.839G>A
Alias Arg280His
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGT to CAT
Phenotype CMT2
htz/hmz htz
Family History D

Züchner et al., 2004
Chung et al., 2006
Verhoeven et al., 2006
References

Genomic cDNA Protein
Observed c.839G>A
Deduced c.839G>A R280H
Region EX9 CDS GTPase
Date Added: 16-Apr-04 ID: 384

Name c.851T>A
Alias Phe284Tyr
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TTC to TAC
Phenotype CMT2
htz/hmz htz
Family History isolated

Kijima et al., 2005
References

Genomic cDNA Protein
Observed c.851T>A
Deduced c.851T>A F284Y
Region EX9 CDS GTPase
Date Added: 24-Mar-05 ID: 718

Name c.892G>A
Alias Gly298Arg
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GGG to AGG
Phenotype - (polymorphism)
htz/hmz -
Family History -

Lawson et al., 2005
References

Genomic cDNA Protein
Observed c.892G>A
Deduced c.892G>A G298R
Region EX9 CDS
Date Added: 12-Dec-06 ID: 824

Name c.957C>T
Alias Gly319Gly
Description Point mutation in coding region causing a silent mutation
Codon Change From GGC to GGT
Phenotype - (polymorphism)
htz/hmz -
Family History -

Lawson et al., 2005
References

Genomic cDNA Protein
Observed c.957C>T
Deduced c.957C>T G319G
Region EX9 CDS
Date Added: 12-Dec-06 ID: 823

Name c.1040A>T
Alias Glu347Val
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAG to GTG
Phenotype CMT2
htz/hmz htz
Family History -

Engelfried et al., 2006
References

Genomic cDNA Protein
Observed c.1040A>T
Deduced c.1040A>T E347V
Region EX11 CDS
Date Added: 14-Feb-07 ID: 840

Name c.1048T>C
Alias Ser350Pro
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TCC to CCC
Phenotype CMT2
htz/hmz htz
Family History de novo

Cho et al., 2007
References

Genomic cDNA Protein
Observed c.1048T>C
Deduced c.1048T>C S350P
Region EX11 CDS
Date Added: 05-Mar-07 ID: 846

Name c.1071G>C
Alias Lys357Asn
Description Point mutation in coding region causing an amino acid substitution
Codon Change From AAG to AAC
Phenotype CMT2
htz/hmz htz
Family History de novo

Kijima et al., 2005
References

Genomic cDNA Protein
Observed c.1071G>C
Deduced c.1071G>C K357N
Region EX11 CDS
Date Added: 24-Mar-05 ID: 719

Name c.1081C>T
Alias His361Tyr
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CAC to TAC
Phenotype CMT2 + optic atrophy
htz/hmz htz
Family History de novo

Züchner et al., 2006
References

Genomic cDNA Protein
Observed c.1081C>T
Deduced c.1081C>T H361Y
Region EX11 CDS
Date Added: 12-Jun-06 ID: 799

Name c.1085C>T
Alias Thr362Met
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ACG to ATG
Phenotype CMT2
htz/hmz htz
Family History AD

Chung et al., 2006
References

Genomic cDNA Protein
Observed c.1085C>T
Deduced c.1085C>T T362M
Region EX11 CDS
Date Added: 11-Dec-06 ID: 819

Name c.1090C>T
Alias Arg364Trp
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGG to TGG
Phenotype CMT2 + optic atrophy
htz/hmz htz
Family History AD

Chung et al., 2006
Züchner et al., 2006
References

Genomic cDNA Protein
Observed c.1090C>T
Deduced c.1090C>T R364W
Region EX11 CDS
Date Added: 12-Jun-06 ID: 800

Name c.1127T>C
Alias Met376Thr
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ATG to ACG
Phenotype CMT2
htz/hmz htz
Family History AD

Chung et al., 2006
References

Genomic cDNA Protein
Observed c.1127T>C
Deduced c.1127T>C M376T
Region EX11 CDS
Date Added: 11-Dec-06 ID: 820

Name c.1128G>A
Alias Met376Ile
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ATG to ATA
Phenotype CMT2
htz/hmz htz
Family History D

Engelfried et al., 2006
Verhoeven et al., 2006
References

Genomic cDNA Protein
Observed c.1128G>A
Deduced c.1128G>A M367I
Region EX11 CDS
Date Added: 29-May-06 ID: 792

Name c.1134_1142delCCTGCACAT
Alias Leu379_Met381del
Description Deletion in coding region causing three amino acids deletion
Codon Change From - to -
Phenotype CMT2
htz/hmz htz
Family History D

Verhoeven et al., 2006
References

Genomic cDNA Protein
Observed c.1134_1142delCCTGCACAT
Deduced c.1134_1142delCCTGCACAT L379_M381del
Region EX11 CDS
Date Added: 29-May-06 ID: 793

Name c.1148C>T
Alias Ala383Val
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GCT to GTT
Phenotype CMT2
htz/hmz htz
Family History AD

Muglia et al., 2007
References

Genomic cDNA Protein
Observed c.1148C>T
Deduced c.1148C>T A383V
Region EX11 CDS
Date Added: 29-Nov-07 ID: 919

Name c.[1157A>C;1158G>T]
Alias Gln386Pro
Description Double point mutation in coding region causing an amino acid substitution
Codon Change From CAG to CCT
Phenotype CMT2
htz/hmz htz
Family History de novo

Verhoeven et al., 2006
References

Genomic cDNA Protein
Observed c.[1157A>C;1158G>T]
Deduced c.[1157A>C;1158G>T] Q386P
Region EX11 CDS
Date Added: 29-May-06 ID: 794

Name c.1252C>T
Alias Arg418X
Description Point mutation in coding region causing a stop mutation
Codon Change From CGA to TGA
Phenotype CMT2 + optic atrophy
htz/hmz htz
Family History de novo

Züchner et al., 2004
Züchner et al., 2006
References

Genomic cDNA Protein
Observed c.1252C>T
Deduced c.1252C>T R418X
Region EX12 CDS
Date Added: 16-Apr-04 ID: 388

Name c.1271A>G
Alias Glu424Gly
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAG to GGG
Phenotype CMT2
htz/hmz htz
Family History familial

Kijima et al., 2005
References

Genomic cDNA Protein
Observed c.1271A>G
Deduced c.1271A>G E424G
Region EX12 CDS coiled-coil
Date Added: 24-Mar-05 ID: 720

Name c.1403G>A
Alias Arg468His
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGC to CAC
Phenotype CMT2 / - (polymorphism)
htz/hmz htz
Family History D

Engelfried et al., 2006
Nelis, 2006
References

Genomic cDNA Protein
Observed c.1403G>A
Deduced c.1403G>A R468H
Region EX14 CDS
Date Added: 14-Feb-07 ID: 841

Name c.2113G>A
Alias Val705Ile
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GTC to ATC
Phenotype CMT2 / - (polymorphism)
htz/hmz htz
Family History -

Engelfried et al., 2006
Nelis, 2006
References

Genomic cDNA Protein
Observed c.2113G>A
Deduced c.2113G>A V705I
Region EX18 CDS
Date Added: 14-Feb-07 ID: 842

Name c.2129T>C
Alias Leu710Pro
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CTG to CCG
Phenotype CMT2
htz/hmz htz
Family History unknown

Verhoeven et al., 2006
References

Genomic cDNA Protein
Observed c.2129T>C
Deduced c.2129T>C L710P
Region EX18 CDS CC2
Date Added: 29-May-06 ID: 795

Name c.2219G>C
Alias Trp740Ser
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TGG to TCG
Phenotype CMT2
htz/hmz htz
Family History AD

Züchner et al., 2004
Verhoeven et al., 2006
References

Genomic cDNA Protein
Observed c.2219G>C
Deduced c.2219G>C W740S
Region EX19 CDS fzo_mitofusin
Date Added: 16-Apr-04 ID: 382

Name c.2251C>T
Alias Gln751X
Description Point mutation in coding region causing a stop mutation
Codon Change From CAG to TAG
Phenotype CMT2
htz/hmz htz
Family History de novo

Verhoeven et al., 2006
References

Genomic cDNA Protein
Observed c.2251C>T
Deduced c.2251C>T Q751X
Region EX19 CDS
Date Added: 29-May-06 ID: 796

Name c.2258_2259insT
Alias Leu753fs
Description Insertion in coding region causing a frameshift and a stop at codon 764
Codon Change From - to -
Phenotype CMT2
htz/hmz htz
Family History -

Engelfried et al., 2006
References

Genomic cDNA Protein
Observed c.2258_2259insT
Deduced c.2258_2259insT L753fsX764
Region EX19 CDS
Date Added: 14-Feb-07 ID: 843



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