Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Mutations in PMP22

Name CMT1A duplication
Alias CMT1A duplication
Description 1.5 Mb duplication on chromosome 17p11.2
Codon Change From to
Phenotype CMT1
htz/hmz -
Family History -

Lupski et al., 1991
Raeymaekers et al., 1991
Wise et al., 1993
Nelis et al., 1996
References

Genomic cDNA Protein
Observed
Deduced
Region
Date Added: ID: 287

Name HNPP deletion
Alias HNPP deletion
Description 1.5 Mb deletion om chromosome 17p11.2
Codon Change From to
Phenotype HNPP (+ CNS involvement)
htz/hmz -
Family History AD

Chance et al., 1993
Nelis et al., 1996
Sanahuja et al., 2005
References

Genomic cDNA Protein
Observed
Deduced
Region
Date Added: 17-Nov-03 ID: 354

Name
Alias reciprocal transclocation t(16;17)(q12;p11.2)
Description reciprocal transclocation t(16;17)(q12;p11.2) interrupting PMP22
Codon Change From - to -
Phenotype HNPP
htz/hmz htz
Family History D

Nadal et al., 2000
References

Genomic cDNA Protein
Observed
Deduced
Region
Date Added: ID: 668

Name partial deletion of coding region
Alias partial deletion of coding region
Description deletion of maximum 47 kb (deletion breakpoint between exon 1b and exon 4 of PMP22)
Codon Change From - to -
Phenotype HNPP
htz/hmz htz
Family History AD

van de Wetering, 2002
Sutton et al., 2004
References

Genomic cDNA Protein
Observed partial deletion of coding region
Deduced partial deletion of coding region
Region
Date Added: 25-Nov-02 ID: 574

Name c.-141C>G
Alias -
Description Point mutation in noncoding exon 1A
Codon Change From - to -
Phenotype - (polymorphism)
htz/hmz -
Family History -

Nelis et al., 1998
References

Genomic cDNA Protein
Observed c.-141C>G
Deduced c.-141C>G
Region EX1A 5'-UTR
Date Added: 04-Feb-03 ID: 614

Name c.-134G>A
Alias -
Description Point mutation in noncoding exon 1A
Codon Change From - to -
Phenotype - (polymorphism)
htz/hmz hmz
Family History isolated

Numakura et al., 2002
References

Genomic cDNA Protein
Observed c.-134G>A
Deduced c.-134G>A
Region EX1A 5'-UTR
Date Added: 04-Feb-03 ID: 619

Name c.-40G>A
Alias -
Description Point mutation in noncoding exon 1A
Codon Change From - to -
Phenotype - (polymorphism)
htz/hmz htz
Family History unknown

Numakura et al., 2002
References

Genomic cDNA Protein
Observed c.-40G>A
Deduced c.-40G>A
Region EX1A 5'-UTR
Date Added: 04-Feb-03 ID: 620

Name c.11delT
Alias Leu4fs
Description Deletion in coding region causing a frameshift and a stop at codon 6
Codon Change From - to -
Phenotype HNPP
htz/hmz htz
Family History D

Muglia et al., 2007
References

Genomic cDNA Protein
Observed c.11delT
Deduced c.11delT L4fsX6
Region EX2 CDS
Date Added: 27-Nov-07 ID: 914

Name c.19_20delAG
Alias Leu7fs
Description Deletion in coding region causing a frameshift and a stop at codon 36
Codon Change From - to -
Phenotype HNPP
htz/hmz htz
Family History -

Nicholson et al., 1994
References

Genomic cDNA Protein
Observed c.19_20delAG
Deduced c.19_20delAG L7fsX36
Region EX2 CDS TM1
Date Added: 01-May-99 ID: 2

Name c.36C>A
Alias His12Gln
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CAC to CAA
Phenotype DSS
htz/hmz htz
Family History -

Valentijn et al., 1995
References

Genomic cDNA Protein
Observed c.36C>A
Deduced c.36C>A H12Q
Region EX2 CDS TM1
Date Added: 01-May-99 ID: 3

Name c.47T>C
Alias Leu16Pro
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CTG to CCG
Phenotype CMT1
htz/hmz htz
Family History -

Valentijn et al., 1992
References

Genomic cDNA Protein
Observed c.47T>C
Deduced c.47T>C L16P
Region EX2 CDS TM1
Date Added: 01-May-99 ID: 4

Name c.56T>C
Alias Leu19Pro
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CTG to CCG
Phenotype DSS
htz/hmz htz
Family History -

Haites et al., 1998
References

Genomic cDNA Protein
Observed c.56T>C
Deduced c.56T>C L19P
Region EX2 CDS TM1
Date Added: 01-May-99 ID: 5

Name c.65C>T
Alias Ser22Phe
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TCC to TTC
Phenotype CMT1 / HNPP
htz/hmz htz
Family History AD

Kleopa et al., 2004
References

Genomic cDNA Protein
Observed c.65C>T
Deduced c.65C>T S22F
Region EX2 CDS TM1
Date Added: 21-Jun-05 ID: 751

Name c.68C>G
Alias Thr23Arg
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ACG to AGG
Phenotype CMT1 + deafness
htz/hmz htz
Family History AD

Joo et al., 2004
References

Genomic cDNA Protein
Observed c.68C>G
Deduced c.68C>G T23R
Region EX2 CDS TM1
Date Added: 20-Jun-05 ID: 743

Name c.73_78delGTCAGC
Alias Val25_Ser26del
Description Deletion in coding region causing two amino acids deletion
Codon Change From - to -
Phenotype CMT1
htz/hmz htz
Family History -

Mersiyanova et al., 2000
References

Genomic cDNA Protein
Observed c.73_78delGTCAGC
Deduced c.73_78delGTCAGC V25_S26del
Region EX2 CDS TM1
Date Added: 09-Jul-99 ID: 348

Name c.78+1G>T
Alias 5'-splice site
Description Splice site mutation
Codon Change From - to -
Phenotype HNPP
htz/hmz htz
Family History -

Bort et al., 1997
References

Genomic cDNA Protein
Observed c.78+1G>T
Deduced
Region IN2 TM1
Date Added: 01-May-99 ID: 6

Name c.82T>C
Alias Trp28Arg
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TGG to CGG
Phenotype CMT1 + deafness
htz/hmz htz
Family History AD

Boerkoel et al., 2002
References

Genomic cDNA Protein
Observed c.82T>C
Deduced c.82T>C W28R
Region EX3 CDS TM1
Date Added: 11-Dec-03 ID: 374

Name c.87C>T
Alias Ile29Ile
Description Point mutation in coding region causing a silent mutation
Codon Change From ATC to ATT
Phenotype - (polymorphism)
htz/hmz htz
Family History -

Nelis, 1998
References

Genomic cDNA Protein
Observed c.87C>T
Deduced c.87C>T I29I
Region EX3 CDS TM1
Date Added: 01-May-99 ID: 34

Name c.88G>A
Alias Val30Met
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GTG to ATG
Phenotype HNPP
htz/hmz htz
Family History -

Sahenk et al., 1998
References

Genomic cDNA Protein
Observed c.88G>A
Deduced c.88G>A V30M
Region EX3 CDS TM1
Date Added: 01-May-99 ID: 7

Name c.110A>T
Alias Asp37Val
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAT to GTT
Phenotype CMT1
htz/hmz htz
Family History -

Fabrizi et al., 1999
References

Genomic cDNA Protein
Observed c.110A>T
Deduced c.110A>T D37V
Region EX3 CDS EC1
Date Added: 06-Jul-99 ID: 337

Name c.178+1G>C
Alias 5'-splice site
Description Splice site mutation
Codon Change From - to -
Phenotype HNPP
htz/hmz htz
Family History D

Bellone et al., 2006
References

Genomic cDNA Protein
Observed c.178+1G>C
Deduced E60fsX75
Region IN3
Date Added: 09-Mar-07 ID: 853

Name c.179-1G>C
Alias 3'-splice site
Description Splice site mutation
Codon Change From - to -
Phenotype HNPP
htz/hmz htz
Family History AD

Meuleman et al., 2001
References

Genomic cDNA Protein
Observed c.179-1G>C
Deduced
Region IN3 EC1
Date Added: 28-Jun-01 ID: 504

Name c.179-2A>G
Alias 3'-splice site
Description splice site mutation
Codon Change From - to -
Phenotype CMT1
htz/hmz htz
Family History -

Ekici et al., 2000
Park et al., 2006
References

Genomic cDNA Protein
Observed c.179-2A>G
Deduced
Region IN3 EC1
Date Added: 20-Mar-02 ID: 555

Name c.183G>A
Alias Trp61X
Description Point mutation in coding region causing a stop mutation
Codon Change From TGG to TGA
Phenotype HNPP
htz/hmz htz
Family History -

Haites et al., 1998
References

Genomic cDNA Protein
Observed c.183G>A
Deduced c.183G>A W61X
Region EX4 CDS EC1
Date Added: 01-May-99 ID: 8

Name c.193G>T
Alias Val65Phe
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GTC to TTC
Phenotype CMT1 + hearing impairment
htz/hmz htz
Family History familial

Huehne et al., 2003
References

Genomic cDNA Protein
Observed c.193G>T
Deduced c.193G>T V65F
Region EX4 CDS TM2
Date Added: 04-Feb-03 ID: 615

Name c.199G>A
Alias Ala67Thr
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GCC to ACC
Phenotype HNPP
htz/hmz htz
Family History AD

Nodera et al., 2003
References

Genomic cDNA Protein
Observed c.199G>A
Deduced c.199G>A A67T
Region EX4 CDS TM2
Date Added: 20-Nov-03 ID: 364

Name c.199G>C
Alias Ala67Pro
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GCC to CCC
Phenotype CMT1 + deafness
htz/hmz htz
Family History -

Kovach et al., 1999
References

Genomic cDNA Protein
Observed c.199G>C
Deduced c.199G>C A67P
Region EX4 CDS TM2
Date Added: 01-May-99 ID: 9

Name c.206T>A
Alias Met69Lys
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ATG to AAG
Phenotype DSS
htz/hmz htz
Family History de novo

Roa et al., 1993
References

Genomic cDNA Protein
Observed c.206T>A
Deduced c.206T>A M69K
Region EX4 CDS TM2
Date Added: 01-May-99 ID: 10

Name c.212T>C
Alias Leu71Pro
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CTG to CCG
Phenotype CMT1 / DSS (+vestibular loss + hearing loss)
htz/hmz htz
Family History AD

Boerkoel et al., 2002
Jen et al., 2005
References

Genomic cDNA Protein
Observed c.212T>C
Deduced c.212T>C L71P
Region EX4 CDS TM2
Date Added: 11-Dec-03 ID: 375

Name c.214T>C
Alias Ser72Pro
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TCG to CCG
Phenotype DSS
htz/hmz htz
Family History -

Ainsworth et al., 1998
Ekici et al., 2001
References

Genomic cDNA Protein
Observed c.214T>C
Deduced c.214T>C S72P
Region EX4 CDS TM2
Date Added: 01-May-99 ID: 13

Name c.215C>G
Alias Ser72Trp
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TCG to TGG
Phenotype DSS
htz/hmz htz
Family History -

Tyson et al., 1997
References

Genomic cDNA Protein
Observed c.215C>G
Deduced c.215C>G S72W
Region EX4 CDS TM2
Date Added: 01-May-99 ID: 12

Name c.215C>T
Alias Ser72Leu
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TCG to TTG
Phenotype CMT1 / DSS (+ deafness) / CH
htz/hmz htz
Family History de novo

Roa et al., 1993
Ionasescu et al., 1996
Ionasescu et al., 1997
Marques et al., 1998
Simonati et al., 1999
Bissar-Tadmouri et al., 2000
Ceuterick-de Groote et al., 2001
Mostacciuolo et al., 2001
Planté-Bordeneuve, 2001
Boerkoel et al., 2002
Numakura et al., 2002
Kochanski et al., 2004
Marques et al., 2004
References

Genomic cDNA Protein
Observed c.215C>T
Deduced c.215C>T S72L
Region EX4 CDS TM2
Date Added: 01-May-99 ID: 11

Name c.227G>T
Alias Ser76Ile
Description Point mutation in coding region causing an amino acid substitution
Codon Change From AGC to ATC
Phenotype DSS (+ deafness)
htz/hmz htz
Family History -

Tyson et al., 1997
References

Genomic cDNA Protein
Observed c.227G>T
Deduced c.227G>T S76I
Region EX4 CDS TM2
Date Added: 01-May-99 ID: 14

Name c.235T>C
Alias Ser79Pro
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TCT to CCT
Phenotype DSS
htz/hmz htz
Family History -

Bort et al., 1998
References

Genomic cDNA Protein
Observed c.235T>C
Deduced c.235T>C S79P
Region EX4 CDS TM2
Date Added: 01-May-99 ID: 16

Name c.236C>G
Alias Ser79Cys
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TCT to TGT
Phenotype CMT1
htz/hmz htz
Family History -

Roa et al., 1993
References

Genomic cDNA Protein
Observed c.236C>G
Deduced c.236C>G S79C
Region EX4 CDS TM2
Date Added: 01-May-99 ID: 15

Name c.238_239delCT
Alias Leu80fs
Description Deletion in coding region causing a frameshift and a stop at codon 210
Codon Change From - to -
Phenotype DSS
htz/hmz htz
Family History -

Ikegami et al., 1998
References

Genomic cDNA Protein
Observed c.238_239delCT
Deduced c.238_239delCT L80fsX210
Region EX4 CDS TM2
Date Added: 01-May-99 ID: 17

Name c.239T>C
Alias Leu80Pro
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CTG to CCG
Phenotype DSS
htz/hmz htz
Family History -

Tyson et al., 1997
References

Genomic cDNA Protein
Observed c.239T>C
Deduced c.239T>C L80P
Region EX4 CDS TM2
Date Added: 01-May-99 ID: 18

Name c.251_253delTCT
Alias Phe84del
Description Deletion in coding region causing an amino acid deletion
Codon Change From - to -
Phenotype DSS (with multiple cranial involvement)
htz/hmz htz
Family History -

Silander et al., 1998
Yener et al., 2001
References

Genomic cDNA Protein
Observed c.251_253delTCT
Deduced c.251_253delTCT F84del
Region EX4 CDS TM2
Date Added: 01-May-99 ID: 19

Name c.256C>T
Alias Gln86X
Description Point mutation in coding region causing a stop mutation
Codon Change From CAA to TAA
Phenotype CMT1
htz/hmz htz
Family History unknown

Numakura et al., 2002
References

Genomic cDNA Protein
Observed c.256C>T
Deduced c.256C>T Q86X
Region EX4 CDS TM3
Date Added: 04-Feb-03 ID: 621

Name c.277G>C
Alias Gly93Arg
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GGG to CGG
Phenotype CMT1
htz/hmz htz
Family History -

Ohnishi et al., 1995
References

Genomic cDNA Protein
Observed c.277G>C
Deduced c.277G>C G93R
Region EX4 CDS IC
Date Added: 01-May-99 ID: 20

Name c.281delG
Alias Gly94fs
Description Deletion in coding region causing a frameshift and a stop at codon 110
Codon Change From - to -
Phenotype CMT1 / DSS
htz/hmz htz
Family History isolated

Ionasescu et al., 1995
Boerkoel et al., 2002
References

Genomic cDNA Protein
Observed c.281delG
Deduced c.281delG G94fsX110
Region EX4 CDS IC
Date Added: 01-May-99 ID: 22

Name c.281_282insG
Alias Gly94fs
Description Insertion in coding region causing a frameshift and a stop at codon 212
Codon Change From - to -
Phenotype HNPP
htz/hmz htz
Family History -

Young et al., 1997
Lenssen et al., 1998
References

Genomic cDNA Protein
Observed c.281_282insG
Deduced c.281_282insG G94fsX212
Region EX4 CDS IC
Date Added: 01-May-99 ID: 21

Name c.298G>A
Alias Gly100Arg
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GGA to AGA
Phenotype DSS
htz/hmz htz
Family History -

Bort et al., 1997
References

Genomic cDNA Protein
Observed c.298G>A
Deduced c.298G>A G100R
Region EX4 CDS TM3
Date Added: 01-May-99 ID: 23

Name c.299G>A
Alias Gly100Glu
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GGA to GAA
Phenotype DSS
htz/hmz htz
Family History -

Marques et al., 1998
References

Genomic cDNA Protein
Observed c.299G>A
Deduced c.299G>A G100E
Region EX4 CDS TM3
Date Added: 01-May-99 ID: 24

Name c.312delT
Alias Ile104fs
Description Deletion in coding region causing a frameshift and a stop at codon 110
Codon Change From - to -
Phenotype CMT1
htz/hmz htz
Family History unknown

Numakura et al., 2002
References

Genomic cDNA Protein
Observed c.312delT
Deduced c.312delT I104fsX110
Region EX4 CDS TM3
Date Added: 04-Feb-03 ID: 622

Name c.314T>G
Alias Leu105Arg
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CTT to CGT
Phenotype CMT1
htz/hmz htz
Family History -

Gabreëls-Festen et al., 1996
References

Genomic cDNA Protein
Observed c.314T>G
Deduced c.314T>G L105R
Region EX4 CDS TM3
Date Added: 01-May-99 ID: 25

Name c.318delT
Alias Ala106fs
Description Deletion in coding region causing a frameshift and a stop at codon 110
Codon Change From - to -
Phenotype CMT1
htz/hmz htz
Family History D

Choi et al., 2004
References

Genomic cDNA Protein
Observed c.318delT
Deduced c.318delT A106fsX110
Region EX4 CDS TM3
Date Added: 24-Mar-05 ID: 721

Name c.319+1G>A
Alias 5'-splice site
Description Splice site mutation
Codon Change From - to -
Phenotype CMT1
htz/hmz htz
Family History -

Nelis et al., 1994
Numakura et al., 2002
References

Genomic cDNA Protein
Observed c.319+1G>A
Deduced
Region IN4 TM3
Date Added: 01-May-99 ID: 26

Name c.320G>T
Alias Gly107Val
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GGT to GTT
Phenotype CMT1
htz/hmz htz
Family History -

Marrosu et al., 1998
References

Genomic cDNA Protein
Observed c.320G>T
Deduced c.320G>T G107V
Region EX5 CDS TM3
Date Added: 01-May-99 ID: 27

Name c.325T>C
Alias Cys109Arg
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TGC to CGC
Phenotype CH
htz/hmz htz
Family History -

Fabrizi et al., 1999
References

Genomic cDNA Protein
Observed c.325T>C
Deduced c.325T>C C109R
Region EX5 CDS TM3
Date Added: 06-Jul-99 ID: 336

Name c.327C>A
Alias Cys109X
Description Point mutation in coding region causing a stop mutation
Codon Change From TGC to TGA
Phenotype CMT1
htz/hmz htz
Family History AD

Abe et al., 2004
References

Genomic cDNA Protein
Observed c.327C>A
Deduced c.327C>A C109X
Region EX5 CDS TM4
Date Added: 24-Aug-04 ID: 703

Name c.327C>T
Alias Cys109Cys
Description Point mutation in coding region causing a silent mutation
Codon Change From TGC to TGT
Phenotype - (polymorphism)
htz/hmz htz
Family History -

Bort et al., 1997
References

Genomic cDNA Protein
Observed c.327C>T
Deduced c.327C>T C109C
Region EX5 CDS TM3
Date Added: 01-May-99 ID: 35

Name c.343_354delGCCATCTACACG
Alias Ala115_Thr118del
Description Deletion in coding region causing four amino acids deletion
Codon Change From - to -
Phenotype CMT1 + deafness
htz/hmz htz
Family History AD

Sambuughin, 2003
References

Genomic cDNA Protein
Observed c.343_354delGCCATCTACACG
Deduced c.343_354delGCCATCTACACG A115_T118del
Region EX5 CDS TM3
Date Added: 04-Feb-03 ID: 635

Name c.353C>T
Alias Thr118Met
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ACG to ATG
Phenotype CMT1 (hemizygous) / polymorphism (heterozygous)
htz/hmz htz or hemizygous
Family History -

Roa et al., 1993
Nelis et al., 1994
Haites et al., 1998
Seeman et al., 1999
Mersiyanova et al., 2000
Young et al., 2000
Grskovic et al., 2002
Marques et al., 2003
References

Genomic cDNA Protein
Observed c.353C>T
Deduced c.353C>T T118M
Region EX5 CDS TM3
Date Added: 01-May-99 ID: 28

Name c.[353C>T]+[353C>T]
Alias [Thr118Met]+[Thr118Met]
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ACG to ATG
Phenotype CMT2
htz/hmz hmz
Family History isolated

Shy et al., 2006
References

Genomic cDNA Protein
Observed c.[353C>T]+[353C>T]
Deduced c.[353C>T]+[353C>T] T118M
Region EX5 CDS TM3
Date Added: 09-Mar-07 ID: 854

Name c.364_365delCC
Alias Pro122fs
Description Deletion in coding region causing a frameshift and a stop at codon 210
Codon Change From - to -
Phenotype HNPP
htz/hmz htz
Family History -

Bissar-Tadmouri et al., 2000
References

Genomic cDNA Protein
Observed c.364_365delCC
Deduced c.364_365delCC P122fsX210
Region EX5 CDS EC2
Date Added: 28-Jun-01 ID: 508

Name c.372G>A
Alias Trp124X
Description Point mutation in coding region causing a stop mutation
Codon Change From TGG to TGA
Phenotype HNPP
htz/hmz htz
Family History -

Pareyson et al., 1996
References

Genomic cDNA Protein
Observed c.372G>A
Deduced c.372G>A W124X
Region EX5 CDS EC2
Date Added: 22-Sep-99 ID: 419

Name [PMP22:c.372G>A]+[LMNA:c.1535T>C]
Alias [PMP22:Trp124X]+[LMNA:Leu512Pro]
Description Point mutation in coding region of PMP22 causing a stop mutation / Point mutation in coding region of LMNA causing an amino acid substitution
Codon Change From [TGG]+[CTG] to [TGA]+[CCG]
Phenotype HNPP
htz/hmz htz
Family History AD

Pegoraro et al., 2005
References

Genomic cDNA Protein
Observed [PMP22:c.372G>A]+[LMNA:c.1535T>C]
Deduced [PMP22:c.372G>A]+[LMNA:c.1535T>C] [PMP22:W124X]+[LMNA:L512P]
Region EX5+EX9 CDS EC2
Date Added: 29-Nov-07 ID: 918

Name c.409A>G
Alias Ile137Val
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ATC to GTC
Phenotype - (polymorphism)
htz/hmz htz
Family History -

Bort et al., 1997
References

Genomic cDNA Protein
Observed c.409A>G
Deduced c.409A>G I137V
Region EX5 CDS TM4
Date Added: 01-May-99 ID: 37

Name c.433_434insC
Alias Leu145fs
Description Insertion in coding region causing a frameshift and a stop at codon 222
Codon Change From - to -
Phenotype HNPP
htz/hmz htz
Family History AD

Zéphir et al., 2005
References

Genomic cDNA Protein
Observed c.433_434insC
Deduced c.433_434insC Leu145fsX222
Region EX5 CDS TM4
Date Added: 09-Sep-05 ID: 778

Name c.434delT
Alias Leu145fs
Description Deletion in coding region causing a frameshift and a stop at codon 154
Codon Change From - to -
Phenotype HNPP
htz/hmz htz
Family History -

Taroni et al., 1995
References

Genomic cDNA Protein
Observed c.434delT
Deduced c.434delT L145fsX154
Region EX5 CDS TM4
Date Added: 22-Sep-99 ID: 420

Name c.440T>G
Alias Leu147Arg
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CTT to CGT
Phenotype CMT1
htz/hmz htz
Family History -

Navon et al., 1996
Mersiyanova et al., 2000
References

Genomic cDNA Protein
Observed c.440T>G
Deduced c.440T>G L147R
Region EX5 CDS TM4
Date Added: 01-May-99 ID: 29

Name c.447C>A
Alias Ser149Arg
Description Point mutation in coding region causing an amino acid substitution
Codon Change From AGC to AGA
Phenotype DSS
htz/hmz htz
Family History -

Ohnishi et al., 2000
References

Genomic cDNA Protein
Observed c.447C>A
Deduced c.447C>A S149R
Region EX5 CDS C
Date Added: 01-Feb-00 ID: 428

Name c.448G>T
Alias Gly150Cys
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GGT to TGT
Phenotype DSS
htz/hmz htz
Family History -

Ikegami et al., 1998
References

Genomic cDNA Protein
Observed c.448G>T
Deduced c.448G>T G150C
Region EX5 CDS TM4
Date Added: 01-May-99 ID: 31

Name c.449G>A
Alias Gly150Asp
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GGT to GAT
Phenotype DSS
htz/hmz htz
Family History -

Ionasescu et al., 1997
References

Genomic cDNA Protein
Observed c.449G>A
Deduced c.449G>A G150D
Region EX5 CDS TM4
Date Added: 01-May-99 ID: 30

Name c.468G>A
Alias Leu156Leu
Description Point mutation in coding region causing a silent mutation
Codon Change From TTG to TTA
Phenotype - (polymorphism)
htz/hmz -
Family History -

Numakura et al., 2002
References

Genomic cDNA Protein
Observed c.468G>A
Deduced c.468G>A L156L
Region EX5 CDS C
Date Added: 04-Feb-03 ID: 623

Name c.[469C>G]+[HNPP deletion]
Alias [Arg157Gly]+[HNPP deletion]
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGG to GGG
Phenotype CMT1 (hemizygous)
htz/hmz hemizygous
Family History -

Numakura et al., 2000
References

Genomic cDNA Protein
Observed c.[469C>G]+[HNPP deletion]
Deduced c.[469C>G]+[HNPP deletion] R157G
Region EX5 CDS C
Date Added: 18-Jan-00 ID: 427

Name c.[469C>T]+[469C>T]
Alias [Arg157Trp]+[Arg157Trp]
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGG to TGG
Phenotype DSS
htz/hmz hmz
Family History -

Parman et al., 1999
References

Genomic cDNA Protein
Observed c.[469C>T] + [469C>T]
Deduced c.[469C>T] + [469C>T] R157W
Region EX5 CDS C
Date Added: 01-May-99 ID: 32

Name c.499T>A
Alias -
Description Point mutation in 3'-UTR
Codon Change From - to -
Phenotype - (polymorphism)
htz/hmz htz
Family History -

Numakura et al., 2002
References

Genomic cDNA Protein
Observed c.499T>A
Deduced c.499T>A
Region 3'-UTR
Date Added: 04-Feb-03 ID: 625



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