Detailed info
Owner: |
tosi-lab |
Position: |
exon 8 |
HAEUID: |
39 |
Nucleotide change |
Protein change |
Traditional: |
16834T>G |
Traditional: |
Leu459Arg |
HUGO: |
g.18016T>G |
HUGO: |
p.Leu481Arg |
CDS: |
c.1442T>G |
Effect: |
pathogenic |
Reference: |
Verpy et al. 1995;95:350-359 |
Family history: |
sporadic (negative) |
No. of cases: |
0 |
Notes: |
Method: FAMA followed by sequencing.
Found associated(in cis) with the Gln452Glu change. Mutant Leu459Arg is not secreted in transfection studies, neither alone nor together with Gln452Glu |
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