References and Comments:

Vianello et al 2001; Herrmann et al 2005; Herrmann et al 2006; Borhany et al 2018
Basic side chain of substituted Arg may interact with and disrupt function of catalytic triad (FX Padua 3).

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
225		M	Costa Rican	<1				Homozygous		Severe	Intracranial hemorrhage, gastrointestinal hemorrhage, hematomas.	Herrmann et al 2005
226		M	Costa Rican	<1		<1		Homozygous		Severe	Intracranial hemorrhage, epistaxis, hematomas, hematuria.	Herrmann et al 2005
227		M	Costa Rican	<1		<1		Homozygous		Severe	Intracranial hemorrhage, gastrointestinal hemorrhage, easy bruising.	Herrmann et al 2005
228		F	Costa Rican	<1				Homozygous		Severe	Intracranial hemorrhage.	Herrmann et al 2005
229		M	Costa Rican	<2				Homozygous		Severe	Intracranial hemorrhage, gingival hemorrhage, easy bruising, hematomas.	Herrmann et al 2005
230		M	Costa Rican	<1		<1		Homozygous		Severe	Gastrointestinal hemorrhage, gingival hemorrhage, easy bruising.	Herrmann et al 2005
31	3	F	Pakistani	<2				Heterozygous	c.169T>C (p.Cys57Arg)	Severe	Umbilical cord bleed, hemarthrosis, intracranial hemorrhage, hemoptysis.	Borhany et al 2018
314	32	F	Italian	8.2		40		Heterozygous	c.1120C>T (p.Ser374Pro)	Asymptomatic	No bleeding history. Related to pa_id: 315-318.	Vianello et al 2001
315	64	M	Italian	76		65		Heterozygous		Asymptomatic	No bleeding history. Related to pa_id: 314, 317 & 318.	Vianello et al 2001
318	30	M	Italian	58		43		Heterozygous		Asymptomatic	No bleeding history. Related to pa_id: 314-317.	Vianello et al 2001

Structural Interpretation:

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