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. 2017 Mar 22;7:45033. doi: 10.1038/srep45033

Table 1. Missense mutations found in the 310-helix formed by D580-S584 in hemophilia A patients.

Mutation Mutation Effect Reported Severity
c.1795G > C p.D580H Severe
c.1796A > T p.D580V Severe
c.1798G > A p.E581K Severe
c.1798G > C p.E581Q Severe
c.1800G > T p.E581D Severe
c.1801A > C p.N582H Moderate
c.1801A > G p.N582D Severe
c.1803C > G p.N582K Severe
c.1804C > G p.R583G Mild
c.1807A > G p.S584G Mild
c.1807A > T p.S584C Severe
c.1808G > C p.S584T Severe
c.1808G > T p.S584I Not reported
c.1809C > G p.S584R Moderate/Severe
c.1810T > C p.W585R Severe
c.1811G > T p.W585L Moderate
c.1812G > C p.W585C Severe
c.1812G > T p.W585C Severe