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c.1147C>T
p.Pro383Ser (Legacy AA No. 343)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
C>T
No. of Patients Reported:
25
Phenotype:
II
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Girolami et al 1970; James, Girolami & Fair 1991; Girolami et al 2018
Variant (Ser) likely interacts with nearby Thr318 through H-bonding, inducing conformational change in FX structure, changing structure of catalytic region, hindering FX activation (FX Friuli).
Bleeding history (epistaxis, post-traumatic hemarthrosis and hematoma, ocular and orbital hemorrhage, meleana and hematemesis, gum bleeding, severe bleeding following tooth extraction ). Related to pa_id: 326, 328-341.
Bleeding history (epistaxis, bruising, post-traumatic hematomas, bleeding after tooth extraction, severe bleeding after small cuts and wounds). Related to pa_id: 326, 327, 329-341.
