Detailed info
Owner: |
tosi-lab |
Position: |
exon 8 |
HAEUID: |
37 |
Nucleotide change |
Protein change |
Traditional: |
16809G>A |
Traditional: |
Val451Met |
HUGO: |
g.17991G>A |
HUGO: |
p.Val473Met |
CDS: |
c.1417G>A |
Effect: |
pathogenic |
Reference: |
Verpy et al. 1995;95:350-359 |
Family history: |
positive |
No. of cases: |
0 |
Notes: |
Method: FAMA followed by sequencing
Reduced secretion and defective binding to C1s. See also Eldering et al. J Biol Chem 1995;270:2579-2587 |
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