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Detailed info
| Owner: | tosi-lab | Position: | exon 8 | HAEUID: | 38 |
| Nucleotide change | Protein change | ||||
| Traditional: | 16812C>G | Traditional: | Gln452Glu | ||
| HUGO: | g.17994C>G | HUGO: | p.Gln474Glu | ||
| CDS: | c.1420C>G | Effect: | unknown | ||
| Reference: | Verpy et al. 1995;95:350-359 | ||||
| Family history: | sporadic (negative) | No. of cases: | 0 | ||
| Notes: | Method: FAMA followed by sequencing This change was not found isolated, but only associated (in cis) with the Leu459Arg mutation. Transfection studies with the single mutation Gln452Glu demonstrated that alone it does not affect secretion or C1s binding. It cannot be considered as a polymorphism, because has so far been observed only in one case |
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