Detailed info
Owner: |
tosi-lab |
Position: |
exon 8 |
HAEUID: |
40 |
Nucleotide change |
Protein change |
Traditional: |
16822T>C |
Traditional: |
Phe455Ser |
HUGO: |
g.18004T>C |
HUGO: |
p.Phe477Ser |
CDS: |
c.1430T>C |
Effect: |
pathogenic |
Reference: |
Verpy et al., 1995; 95:350-359 |
Family history: |
sporadic (negative) |
No. of cases: |
0 |
Notes: |
Method: FAMA followed by sequencing.
Only trace secretion found in transfection studies. Unable to bind C1s. |
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