Detailed info
Owner: |
tordai-lab |
Position: |
exon 3 |
HAEUID: |
133 |
Nucleotide change |
Protein change |
Traditional: |
2533G>A |
Traditional: |
Cys108Tyr |
HUGO: |
g.3715G>A |
HUGO: |
p.Cys130Tyr |
CDS: |
c.389G>A |
Effect: |
pathogenic |
Reference: |
Kalmar L et al (Hum Mutat 2003 Dec;22(6):498) |
Family history: |
positive |
No. of cases: |
2 |
Notes: |
- Not detected among 100 control chromosomes.
- Disease-linked segregation in the family.
- Destroys the disulfide bond between the Cys108 and Cys183 amino acids.
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