Windpassinger et al., 2004 |
Genomic | cDNA | Protein | |
|---|---|---|---|---|
| Observed | c.269C>T | |||
| Deduced | c.269C>T | S90L | ||
| Region | EX3 | CDS | N-glycosylation site | |
| Date Added: 25-Feb-04 | ID: 381 | |||
Mutations in BSCL2 can also cause Berardinelli-Seip congenital lypodystrophy-2 OMIM 269700
| Name | c.269C>T |
|---|---|
| Alias | Ser90Leu |
| Description | Point mutation in coding region causing an amino acid substitution |
| Codon Change | From TCG to TTG |
| Phenotype | dHMN / Silver syndrome (SPG17) |
| htz/hmz | htz |
| Family History | AD |
Windpassinger et al., 2004 |
Genomic | cDNA | Protein | |
|---|---|---|---|---|
| Observed | c.269C>T | |||
| Deduced | c.269C>T | S90L | ||
| Region | EX3 | CDS | N-glycosylation site | |
| Date Added: 25-Feb-04 | ID: 381 | |||