In-Depth Variant Analysis: 
c.3980A>G (p.His1327Arg)
Terms with a '* ' next to them are explained on the Help Page .
c.3980A>G
p.His1327Arg (Legacy AA No. 1299)
Variant Effect: 
Missense
Codon Change: 
3980A>G
No. of Patients Reported: 
31
Phenotype: 
Asymptomatic
Allele Count *: 
15590
Allele Number *: 
277490
Allele Frequency *: 
0.056182
Variant Comments & Reference:
NA
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
137
NA
N
NA
30
NA
30
NA
Heterozygous
c.1135_1136delCA (p.His379Phefs*3)
Asymptomatic
Mild FV deficiency (>13% FV:C); heterozygous for HR2 haplotype variants
Paraboschi et al 2020
158
NA
F
NA
37
NA
43
NA
Heterozygous
c.1296+268A>G
Asymptomatic
NA
Castoldi et al 2011
2
NA
M
NA
1
NA
NA
NA
Heterozygous
delexon1-7c.1975+5G>A
Moderate
heel pricks and prolonged bleeding, circumcision caused bleeding, bleeding that required a transfusion with blood and fresh-frozen plasma (day 2)
Guella et al 2011
211
NA
F
NA
47
NA
53
NA
Heterozygous
c.1601G>A (p.Arg534Gln)
Asymptomatic
history of venous thrombosis; pseudohomozygous APC resistance
Castaman et al 1997
212
NA
M
NA
45
NA
52
NA
Heterozygous
c.1601G>A (p.Arg534Gln)
Asymptomatic
stroke aged 41; pseudohomozygous APC resistance
Castaman et al 1997
214
NA
M
NA
50
NA
48
NA
Heterozygous
c.1601G>A (p.Arg534Gln)
Asymptomatic
NA
Castaman et al 1997
271
NA
M
NA
1
NA
NA
NA
Heterozygous
delexon1-7c.1975+5G>A
Moderate
bleeding post circumcision, bleeding from umbilical venous catheter that required fresh-frozen plasma
Guella et al 2011
272
NA
M
NA
NA
NA
NA
NA
Heterozygous
c.1975+5G>A
NA
NA
Guella et al 2011
475
NA
M
NA
77
NA
NA
NA
Homozygous
Asymptomatic
NA
Castoldi et al 2004
476
NA
M
NA
80
NA
NA
NA
Homozygous
Asymptomatic
NA
Castoldi et al 2004
477
NA
N
NA
29
NA
NA
NA
Heterozygous
c.5176C>T (p.Arg1726Trp)
Asymptomatic
epistaxis
Calzavarini et al 2013
478
NA
M
NA
45
NA
52
NA
Heterozygous
c.1601G>A (p.Arg534Gln)
Asymptomatic
stroke aged 41; pseudohomozygous APC resistance
Castaman et al 1997
479
NA
M
NA
55
NA
58
NA
Heterozygous
Asymptomatic
NA
Castaman et al 1997
480
NA
M
NA
50
NA
48
NA
Heterozygous
c.1601G>A (p.Arg534Gln)
Asymptomatic
pseudohomozygous APC resistance
Castaman et al 1997
481
NA
F
NA
47
NA
53
NA
Heterozygous
c.1601G>A (p.Arg534Gln)
Asymptomatic
pseudohomozygous APC resistance
Castaman et al 1997
482
NA
F
NA
36
NA
43
NA
Heterozygous
c.5189A>G (p.Tyr1730Cys)
Asymptomatic
DVT and PE
Castoldi et al 2000A
483
NA
F
NA
37
NA
43
NA
Heterozygous
c.1296+268A>G
Asymptomatic
NA
Castoldi et al 2011
484
NA
M
NA
1
NA
NA
NA
Heterozygous
delexon1-7c.1975+5G>A
Moderate
NA
Guella et al 2011
485
NA
M
NA
NA
NA
NA
NA
Heterozygous
c.1975+5G>A
NA
NA
Guella et al 2011
486
NA
N
NA
66
NA
65
NA
Heterozygous
Asymptomatic
Mild FV deficiency (>13% FV:C)
Paraboschi et al 2020
487
NA
N
NA
30
NA
30
NA
Heterozygous
c.1135_1136delCA (p.His379Phefs*3)
Asymptomatic
Mild FV deficiency (>13% FV:C)
Paraboschi et al 2020
488
NA
N
NA
45
NA
NA
NA
Heterozygous
c.4650C>G (p.Tyr1550*)
Asymptomatic
Mild FV deficiency (>13% FV:C)
Paraboschi et al 2020
489
NA
N
NA
36
NA
27
NA
Heterozygous
Asymptomatic
Mild FV deficiency (>13% FV:C)
Paraboschi et al 2020
490
NA
N
NA
65
NA
60
NA
Heterozygous
Asymptomatic
Mild FV deficiency (>13% FV:C)
Paraboschi et al 2020
491
NA
N
NA
65
NA
40
NA
Heterozygous
Asymptomatic
Mild FV deficiency (>13% FV:C)
Paraboschi et al 2020
492
NA
B
NA
NA
NA
NA
NA
Both
NA
NA
de Visser et al 2000
493
NA
N
NA
NA
NA
NA
NA
Not Reported
NA
NA
Le et al 2000
494
NA
N
NA
NA
NA
NA
NA
Both
NA
NA
Lunghi et al 1996
526
NA
N
NA
45
NA
NA
NA
Heterozygous
c.4650C>G (p.Tyr1550*)
Asymptomatic
Mild FV deficiency (>13% FV:C)
Paraboschi et al 2020
572
NA
N
NA
29
NA
NA
NA
Heterozygous
c.5176C>T (p.Arg1726Trp)
Asymptomatic
epistaxis
Calzavarini et al 2013
584
NA
F
NA
36
NA
43
NA
Heterozygous
c.5189A>G (p.Tyr1730Cys)
Asymptomatic
DVT & PE
Castoldi et al 2000A
Residue Information:
Name
Type
Cyclic
Size
Position
Hydrophobicity
Charge
Wild Type
His
aromatic/basic
cyclic
large
surface
hydrophilic
postive
Mutated
Arg
basic
acyclic
large
surface
hydrophilic
postive
Structural Implications:
FV: His1327 is an exposed residue  (surface accessibility value = 7 ). FVa: His1327 is not present in FVa  (surface accessibility value = ). His1327 is in a region of secondary structure within the FV domains. The DSSP assignment for this residue is ... NA.
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Factor X Variant Database