For historical reason, the name of the mutation is based on the MPZ sequence D10537 (http://www.ncbi.nlm.nih.gov/entrez/) as published by Hayasaka et al., Biochem. Biophys. Res. Commun. 180, 515-518 (1991), and not the MPZ RefSeq NM_000530 ( http://www.ncbi.nlm.nih.gov/entrez/). In the first sequence the translation initiation codon is 30 nucleotides downstream of the one in the Refseq. The corresponding protein sequence is 10 amino acids shorter than the protein sequence derived from the MPZ RefSeq.
However, the RefSeq record for MPZ has been updated on 03 May 2010 to now encode the 248 amino acid protein referred as NM_000530.6. The RefSeq NM_000530.6 should be considered when referring to MPZ mutations at the protein level.
| Name |
c.293G>A |
| Alias |
Arg98His |
| Description |
Point mutation in coding region causing an amino acid substitution |
| Codon Change |
From CGC to CAC |
| Phenotype |
CMT1 |
| htz/hmz |
htz |
| Family History |
- |
Hayasaka et al., 1993
Gabreëls-Festen et al., 1996
Rouger et al., 1996
Lagueny et al., 1999
Mersiyanova et al., 2000
Young et al., 2001
Watanabe et al., 2002
Shy et al., 2004
Lee et al., 2005
References
|
|
Genomic |
cDNA |
Protein |
| Observed |
c.293G>A |
|
|
| Deduced |
|
c.293G>A |
R98H |
| Region |
EX3 |
CDS |
EC |
| Date Added: 01-May-99 |
ID: 60 |
| Name |
c.325G>A |
| Alias |
Asp109Asn |
| Description |
Point mutation in coding region causing an amino acid substitution |
| Codon Change |
From GAT to AAT |
| Phenotype |
CMT1 |
| htz/hmz |
htz |
| Family History |
- |
Lagueny et al., 1999
References
|
|
Genomic |
cDNA |
Protein |
| Observed |
c.325G>A |
|
|
| Deduced |
|
c.325G>A |
D109N |
| Region |
EX3 |
CDS |
EC |
| Date Added: 12-Nov-99 |
ID: 421 |
