IPN Mutations
| Name |
c.[359+5G>T]+[359+5G>T] |
| Alias |
5'-splice site (skipping exon 3 and skipping exons 2+3) |
| Description |
Splice site mutation leading to exon skipping |
| Codon Change |
From - to - |
| Phenotype |
CIPA or HSN IV |
| htz/hmz |
hmz |
| Family History |
isolated |
Verpoorten et al., 2006
References
|
|
Genomic |
cDNA |
Protein |
| Observed |
c.[359+5G>T]+[359+5G>T] |
c.[213_359del; 288_359del] |
|
| Deduced |
|
|
skipping exon 3 and skipping exons 2+3 |
| Region |
IN3 |
|
|
| Date Added: 11-Dec-06 |
ID: 806 |
| Name |
c.[543delG]+[543delG] |
| Alias |
Gly181fs |
| Description |
Deletion in coding region causing a frameshift and a stop at codon 239 |
| Codon Change |
From - to - |
| Phenotype |
CIPA or HSN IV |
| htz/hmz |
hmz |
| Family History |
isolated |
Verpoorten et al., 2006
References
|
|
Genomic |
cDNA |
Protein |
| Observed |
c.[543delG]+[543delG] |
|
|
| Deduced |
|
c.[543delG]+[543delG] |
G181fsX239 |
| Region |
EX5 |
CDS |
|
| Date Added: 11-Dec-06 |
ID: 805 |
| Name |
c.[1838G>T]+[1838G>T] |
| Alias |
[Gly613Val]+[Gly613Val] |
| Description |
Point mutation in coding region causing an amino acid substitution |
| Codon Change |
From GGT to GTT |
| Phenotype |
- (polymorphism) |
| htz/hmz |
hmz |
| Family History |
- |
Shatzky et al., 2000
Verpoorten et al., 2006
References
|
|
Genomic |
cDNA |
Protein |
| Observed |
c.[1838G>T]+[1838G>T] |
|
|
| Deduced |
|
c.[1838G>T]+[1838G>T] |
G613V |
| Region |
EX15 |
CDS |
TK |
| Date Added: 26-Jul-01 |
ID: 538 |
| Name |
c.[1877_1878insA]+[1877_1878insA] |
| Alias |
Gln626fs |
| Description |
Insertion in coding region causing a frameshift and a stop at codon 632 |
| Codon Change |
From - to - |
| Phenotype |
CIPA or HSN IV |
| htz/hmz |
hmz |
| Family History |
isolated |
Verpoorten et al., 2006
References
|
|
Genomic |
cDNA |
Protein |
| Observed |
c.[1877_1878insA]+[1877_1878insA] |
|
|
| Deduced |
|
c.[1877_1878insA]+[1877_1878insA] |
Q626fsX632 |
| Region |
EX15 |
CDS |
|
| Date Added: 11-Dec-06 |
ID: 804 |
| Name |
c.1887C>T |
| Alias |
Ala629Ala |
| Description |
Point mutation in coding region causing a silent mutation |
| Codon Change |
From GCC to GCT |
| Phenotype |
- (polymorphism) |
| htz/hmz |
- |
| Family History |
- |
Shatzky et al., 2000
Verpoorten et al., 2006
References
|
|
Genomic |
cDNA |
Protein |
| Observed |
c.1887C>T |
|
|
| Deduced |
|
c.1887C>T |
A629A |
| Region |
EX15 |
CDS |
TK |
| Date Added: 26-Jul-01 |
ID: 536 |
| Name |
c.[2281C>T]+[2281C>T] |
| Alias |
[Arg761Trp]+[Arg761Trp] |
| Description |
Point mutation in coding region causing an amino acid substitution |
| Codon Change |
From [CGG]+[CGG] to [TGG]+[TGG] |
| Phenotype |
CIPA or HSN IV |
| htz/hmz |
hmz |
| Family History |
isolated |
Indo et al., 2001
Verpoorten et al., 2006
References
|
|
Genomic |
cDNA |
Protein |
| Observed |
c.[2281C>T]+[2281C>T] |
|
|
| Deduced |
|
c.[2281C>T]+[2281C>T] |
[R761W]+[R761W] |
| Region |
EX17 |
CDS |
|
| Date Added: 22-Jul-04 |
ID: 696 |
