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Detailed info
| Owner: | tosi-lab | Position: | exon 7 | HAEUID: | 36 |
| Nucleotide change | Protein change | ||||
| Traditional: | 14181A>T | Traditional: | Thr372Pro | ||
| HUGO: | g.15363A>T | HUGO: | p.Thr394Pro | ||
| CDS: | c.1180A>T | Effect: | unknown | ||
| Reference: | Verpy et al. (Am J Hum Genet 1996 Aug;59(2):308-19) | ||||
| Family history: | positive | No. of cases: | 0 | ||
| Notes: | Method: FAMA followed by sequencing No functional information. Low conservation of Thr, but Pro not found at this position in serpins Note of tordai-lab (2004-03-07): Also found in one Hungarian HAE type I family (Kalmar L et al (Hum Mutat 2003 Dec;22(6):498);14635117) |
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