IPN Mutations
Mutations in
MFN2
| 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.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.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.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.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 |
