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Detailed info
| Owner: | tordai-lab | Position: | exon 3 | HAEUID: | 133 |
| Nucleotide change | Protein change | ||||
| Traditional: | 2533G>A | Traditional: | Cys108Tyr | ||
| HUGO: | g.3715G>A | HUGO: | p.Cys130Tyr | ||
| CDS: | c.389G>A | Effect: | pathogenic | ||
| Reference: | Kalmar L et al (Hum Mutat 2003 Dec;22(6):498) | ||||
| Family history: | positive | No. of cases: | 2 | ||
| Notes: | - Not detected among 100 control chromosomes. - Disease-linked segregation in the family. - Destroys the disulfide bond between the Cys108 and Cys183 amino acids. |
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