Factor V Variant Database

In-Depth Variant Analysis: c.1601G>A (p.Arg534Gln)

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c.1601G>A

p.Arg534Gln (Legacy AA No. 506)

Variant Type:

Point

Domain:

d5A2

Location:

Exon 10

Variant Effect:

Missense

Codon Change:

1601G>A

No. of Patients Reported:

Phenotype:

Asymptomatic

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
183	NA	M	NA	67	NA	NA	NA	Heterozygous	c.1426C>T (p.Gln476*)	Asymptomatic	pseudo-homozygous FV Leiden: one thrombotic episode	Delev et al 2009
203	NA	F	NA	91	NA	NA	NA	Homozygous		Asymptomatic	NA	Castoldi et al 2004
204	NA	M	NA	121	NA	NA	NA	Homozygous		Asymptomatic	Thrombotic episodes	Castoldi et al 2004
205	NA	F	NA	<1	NA	<1	NA	Homozygous	c.3481C>T (p.Arg1161*)	Severe	homozygous for FV Leiden, but nonsense variant in cis rescues	van Wijk et al 2001B
206	NA	M	NA	<1	NA	<1	NA	Homozygous	c.3481C>T (p.Arg1161*)	Severe	homozygous for FV Leiden, but nonsense variant in cis rescues	van Wijk et al 2001B
207	NA	F	NA	65	NA	53	NA	Heterozygous	c.6179G>A (p.Gly2060Asp)	Asymptomatic	retinal vein thrombosis	Asselta et al 2004
208	NA	F	NA	50	NA	39	NA	Heterozygous	c.6179G>A (p.Gly2060Asp)	Asymptomatic	NA	Asselta et al 2004
209	NA	F	NA	47	NA	46	NA	Heterozygous	c.6179G>A (p.Gly2060Asp)	Asymptomatic	NA	Asselta et al 2004
210	NA	N	NA	41	NA	46	NA	Heterozygous	c.5176C>T (p.Arg1726Trp)	Asymptomatic	epistaxis	Calzavarini et al 2013
211	NA	F	NA	47	NA	53	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	history of venous thrombosis; pseudohomozygous APC resistance	Castaman et al 1997
212	NA	M	NA	45	NA	52	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	stroke aged 41; pseudohomozygous APC resistance	Castaman et al 1997
213	NA	F	NA	98	NA	96	NA	Heterozygous		Asymptomatic	DVT aged 55	Castaman et al 1997
214	NA	M	NA	50	NA	48	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	NA	Castaman et al 1997
215	NA	F	NA	42	NA	54	NA	Heterozygous	c.3615_3616dupTC (p.Pro1206Leufs*47)	Asymptomatic	pseudo-homozygous APC resistance	Castoldi et al 1998
216	NA	M	NA	50	NA	50	NA	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	pseudohomozygous FV Leiden; right leg DVT	Castoldi et al 2000A
217	NA	M	NA	50	NA	50	NA	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	recurrent thromboses; pseudohomozygous APC resistance	Castoldi et al 2001
218	NA	F	NA	45	NA	40	NA	Heterozygous	c.6523delG (p.Asp2175Thrfs*14)	Asymptomatic	pseudohomozygous APC resistance	Dargaud et al 2003
219	NA	F	NA	50	NA	48	NA	Heterozygous	c.5592delT (p.Leu1864Cysfs*10)	Asymptomatic	NA	Dargaud et al 2003
220	NA	M	NA	67	NA	NA	NA	Heterozygous	c.1426C>T (p.Gln476*)	Asymptomatic	pseudo-homozygous FV Leiden: one thrombotic episode	Delev et al 2009
221	NA	M	NA	72	NA	73	NA	Heterozygous	c.5419G>A (p.Ala1807Thr)	Asymptomatic	Previous thrombotic episodes	Guasch et al 1997
222	NA	M	NA	52	NA	NA	NA	Heterozygous	c.2218C>T (p.Arg740*)	Asymptomatic	pseudohomozygous APC resistance; three DVTs	Lunghi et al 1998
223	NA	F	NA	110	NA	NA	NA	Heterozygous		Asymptomatic	one thrombophlebitic episode	Lunghi et al 1998
224	NA	M	NA	55	NA	54	NA	Heterozygous	c.4906G>A (p.Glu1636Lys)	Asymptomatic	DVT	Lunghi et al 2005B
225	NA	F	NA	57	NA	NA	NA	Heterozygous	c.4906G>A (p.Glu1636Lys)	Asymptomatic	recurrent phlebitis	Lunghi et al 2005B
226	NA	M	NA	20	NA	NA	NA	Heterozygous	c.4906G>A (p.Glu1636Lys)	Asymptomatic	carotid thrombosis and recurrent DVT	Lunghi et al 2005B
227	NA	F	NA	65	NA	43	NA	Heterozygous	c.5236G>A (p.Gly1746Ser)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
228	NA	M	NA	72	NA	37	NA	Heterozygous	c.5236G>A (p.Gly1746Ser)	Asymptomatic	normal APCR ratio even with heterozygous FV Leiden	Pruller et al 2013
229	NA	F	NA	54	NA	30	NA	Heterozygous	c.5236G>A (p.Gly1746Ser)	Asymptomatic	normal APCR ratio even though heterozygous FV Leiden	Pruller et al 2013
230	NA	F	NA	76	NA	52	NA	Heterozygous	c.5236G>A (p.Gly1746Ser)	Asymptomatic	normal APCR ratio even though heterozygous FV Leiden	Pruller et al 2013
231	NA	N	NA	61	NA	51	NA	Heterozygous	c.6212delG (p.Gly2071Valfs*7)	Asymptomatic	VTE	Simioni et al 2005
232	NA	N	NA	56	NA	59	NA	Heterozygous	c.6419G>A (p.Gly2140Asp)	Asymptomatic	VTE	Simioni et al 2005
233	NA	N	NA	50	NA	60	NA	Heterozygous	c.3615_3616dupTC (p.Pro1206Leufs*47)	Asymptomatic	VTE	Simioni et al 2005
234	NA	N	NA	45	NA	44	NA	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	VTE	Simioni et al 2005
235	NA	N	NA	51	NA	46	NA	Heterozygous	c.5764C>T (p.Gln1922*)	Asymptomatic	VTE	Simioni et al 2005
236	NA	M	NA	55	NA	NA	NA	Heterozygous	c.4699_4702dupATTG (p.Ala1568Aspfs*21)	Asymptomatic	pseudohomozygous FV Leiden: thrombophilia	Zehnder et al 1999A see erratum & Mo
237	NA	F	NA	100	NA	NA	NA	Heterozygous		Asymptomatic	NA	Zehnder et al 1999A see erratum & Mo
238	NA	N	NA	NA	NA	NA	NA	Both		NA	first reports of prothrombotic F5 Leiden variant	Bertina et al 1994
296	NA	M	NA	52	NA	NA	NA	Heterozygous	c.2218C>T (p.Arg740*)	Asymptomatic	pseudohomozygous APC resistance: thrombotic episodes in lower limbs; three DVTs;	Lunghi et al 1998
434	NA	F	NA	<1	NA	<1	NA	Homozygous	c.3481C>T (p.Arg1161*)	Severe	NA	van Wijk et al 2001B
435	NA	M	NA	<1	NA	<1	NA	Homozygous	c.3481C>T (p.Arg1161*)	Severe	NA	van Wijk et al 2001B
445	NA	F	NA	42	NA	54	NA	Heterozygous	c.3615_3616dupTC (p.Pro1206Leufs*47)	Asymptomatic	pseudo-homozygous APC resistance	Castoldi et al 1998
446	NA	N	NA	50	NA	60	NA	Heterozygous	c.3615_3616dupTC (p.Pro1206Leufs*47)	Asymptomatic	VTE	Simioni et al 2005
478	NA	M	NA	45	NA	52	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	stroke aged 41; pseudohomozygous APC resistance	Castaman et al 1997
480	NA	M	NA	50	NA	48	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	pseudohomozygous APC resistance	Castaman et al 1997
481	NA	F	NA	47	NA	53	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	pseudohomozygous APC resistance	Castaman et al 1997
528	NA	M	NA	55	NA	NA	NA	Heterozygous	c.4699_4702dupATTG (p.Ala1568Aspfs*21)	Asymptomatic	pseudohomozygous FV Leiden; thrombotic episodes	Zehnder et al 1999A see erratum & Mo
546	NA	M	NA	55	NA	54	NA	Heterozygous	c.4906G>A (p.Glu1636Lys)	Asymptomatic	DVT	Lunghi et al 2005B
547	NA	F	NA	57	NA	NA	NA	Heterozygous	c.4906G>A (p.Glu1636Lys)	Asymptomatic	phlebitis	Lunghi et al 2005B
548	NA	M	NA	20	NA	NA	NA	Heterozygous	c.4906G>A (p.Glu1636Lys)	Asymptomatic	recurrent DVT and occlusive carotid thrombosis	Lunghi et al 2005B
571	NA	N	NA	41	NA	46	NA	Heterozygous	c.5176C>T (p.Arg1726Trp)	Asymptomatic	epistaxis	Calzavarini et al 2013
583	NA	M	NA	50	NA	50	NA	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	pseudohomozygous FV Leiden; right leg DVT	Castoldi et al 2000A
591	NA	M	NA	50	NA	50	NA	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	recurrent thromboses; pseudohomozygous APC resistance	Castoldi et al 2001
594	NA	N	NA	45	NA	44	NA	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	VTE	Simioni et al 2005
605	NA	F	NA	65	NA	43	NA	Heterozygous	c.5236G>A (p.Gly1746Ser)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
606	NA	M	NA	72	NA	37	NA	Heterozygous	c.5236G>A (p.Gly1746Ser)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
607	NA	F	NA	54	NA	30	NA	Heterozygous	c.5236G>A (p.Gly1746Ser)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
608	NA	F	NA	76	NA	52	NA	Heterozygous	c.5236G>A (p.Gly1746Ser)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
631	NA	M	NA	72	NA	73	NA	Heterozygous	c.5419G>A (p.Ala1807Thr)	Asymptomatic	history of thrombosis	Guasch et al 1997
659	NA	F	NA	50	NA	48	NA	Heterozygous	c.5592delT (p.Leu1864Cysfs*10)	Asymptomatic	in cis rescue from APC resistance; superficial thrombosis	Dargaud et al 2003
676	NA	N	NA	51	NA	46	NA	Heterozygous	c.5764C>T (p.Gln1922*)	Asymptomatic	VTE	Simioni et al 2005
727	NA	F	NA	65	NA	53	NA	Heterozygous	c.6179G>A (p.Gly2060Asp)	Asymptomatic	retinal vein thrombosis	Asselta et al 2004
728	NA	F	NA	50	NA	39	NA	Heterozygous	c.6179G>A (p.Gly2060Asp)	Asymptomatic	NA	Asselta et al 2004
729	NA	F	NA	47	NA	46	NA	Heterozygous	c.6179G>A (p.Gly2060Asp)	Asymptomatic	NA	Asselta et al 2004
734	NA	N	NA	61	NA	51	NA	Heterozygous	c.6212delG (p.Gly2071Valfs*7)	Asymptomatic	VTE	Simioni et al 2005
769	NA	N	NA	56	NA	59	NA	Heterozygous	c.6419G>A (p.Gly2140Asp)	Asymptomatic	VTE	Simioni et al 2005
780	NA	F	NA	45	NA	40	NA	Heterozygous	c.6523delG (p.Asp2175Thrfs*14)	Asymptomatic	pseudohomozygous APC resistance	Dargaud et al 2003

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Arg	basic	acyclic	large	surface	hydrophilic	postive
Mutated	Gln	-	acyclic	large	surface	hydrophilic	neutral

Substitution Analysis:

Grantham Score : 43

PolyPhen-2 Prediction : probably damaging (SCORE: 1.000)

SIFT Prediction : Probably Damaging (SCORE: 0.03)

PROVEAN Prediction : Deleterious (SCORE: -3.161)

Structural Implications:

FV: Arg534 is an exposed residue (surface accessibility value = 3 ).

FVa: Arg534 is an exposed residue (surface accessibility value = 7 ).

Arg534 is in a region of secondary structure within the FV domains.

The DSSP assignment for this residue is ... T.

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