In-Depth Variant Analysis: 
c.5189A>G (p.Tyr1730Cys)
Terms with a '* ' next to them are explained on the Help Page .
c.5189A>G
p.Tyr1730Cys (Legacy AA No. 1702)
Variant Effect: 
Missense
Codon Change: 
5189A>G
No. of Patients Reported: 
28
Allele Number *: 
250750
Allele Frequency *: 
0.000016
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
121
NA
F
NA
<1
NA
<3
NA
Heterozygous
c.1042_1049del (p.Lys348Glyfs*32)
Severe
soft tissue bleeds of the mouth, epistaxis, fresh frozen plasma used to treat
van Wijk et al 2001A
216
NA
M
NA
50
NA
50
NA
Heterozygous
c.1601G>A (p.Arg534Gln)
Asymptomatic
pseudohomozygous FV Leiden; right leg DVT
Castoldi et al 2000A
217
NA
M
NA
50
NA
50
NA
Heterozygous
c.1601G>A (p.Arg534Gln)
Asymptomatic
recurrent thromboses; pseudohomozygous APC resistance
Castoldi et al 2001
234
NA
N
NA
45
NA
44
NA
Heterozygous
c.1601G>A (p.Arg534Gln)
Asymptomatic
VTE
Simioni et al 2005
264
NA
F
NA
<3
NA
<1
NA
Heterozygous
c.1852dupC (p.Gln618Profs*3)
Asymptomatic
recurrent epistaxis
Yamakage et al 2006
482
NA
F
NA
36
NA
43
NA
Heterozygous
c.3980A>G (p.His1327Arg)
Asymptomatic
DVT and PE
Castoldi et al 2000A
543
NA
M
NA
<1
NA
<1
NA
Heterozygous
c.4900C>T (p.Arg1634*)
Severe
muscle hematomas and hemarthroses spontaneously or after minor trauma
Montefusco et al 2003
577
NA
M
NA
1
NA
NA
NA
Homozygous
Moderate
NA
Castoldi et al 2001
578
NA
F
NA
1
NA
NA
NA
Homozygous
Moderate
recurrent epistaxis; serious hemorrhage post dental extraction
Castoldi et al 2001
579
NA
F
NA
0
NA
1
NA
Homozygous
Severe
NA
Montefusco et al 2003
580
NA
N
NA
0
NA
<1
NA
Homozygous
Severe
hernia with hemmorhages
Paraboschi et al 2020
581
NA
N
NA
0
NA
2
NA
Homozygous
Severe
Severe FV deficiency (<13% FV:C)
Paraboschi et al 2020
582
NA
M
NA
<2
NA
NA
NA
Homozygous
Asymptomatic
bleeding after trauma or surgery
Talbot et al 2010
583
NA
M
NA
50
NA
50
NA
Heterozygous
c.1601G>A (p.Arg534Gln)
Asymptomatic
pseudohomozygous FV Leiden; right leg DVT
Castoldi et al 2000A
584
NA
F
NA
36
NA
43
NA
Heterozygous
c.3980A>G (p.His1327Arg)
Asymptomatic
DVT & PE
Castoldi et al 2000A
585
NA
M
NA
60
NA
60
NA
Heterozygous
Asymptomatic
NA
Castoldi et al 2000A
586
NA
F
NA
55
NA
50
NA
Heterozygous
Asymptomatic
NA
Castoldi et al 2000A
587
NA
M
NA
64
NA
56
NA
Heterozygous
Asymptomatic
NA
Castoldi et al 2000A
588
NA
F
NA
40
NA
45
NA
Heterozygous
Asymptomatic
NA
Castoldi et al 2000A
589
NA
F
NA
0
NA
NA
NA
Heterozygous
Severe
gum bleeding from age 3; post-traumatic hemarthrosis age 8, recurrent menorrhagia age 15
Castoldi et al 2001
590
NA
M
NA
30
NA
NA
NA
Heterozygous
Asymptomatic
bleeding after tonsillectinomy
Castoldi et al 2001
591
NA
M
NA
50
NA
50
NA
Heterozygous
c.1601G>A (p.Arg534Gln)
Asymptomatic
recurrent thromboses; pseudohomozygous APC resistance
Castoldi et al 2001
592
NA
M
NA
0
NA
<1
NA
Heterozygous
c.4900C>T (p.Arg1634*)
Severe
muscle hematomas and hemarthroses spontaneously or after minor trauma; gum bleeding
Montefusco et al 2003
593
NA
F
NA
58
NA
63
NA
Heterozygous
Asymptomatic
NA
Montefusco et al 2003
594
NA
N
NA
45
NA
44
NA
Heterozygous
c.1601G>A (p.Arg534Gln)
Asymptomatic
VTE
Simioni et al 2005
595
NA
M
NA
50
NA
50
NA
Heterozygous
Asymptomatic
NA
Talbot et al 2010
596
NA
F
NA
0
NA
<3
NA
Heterozygous
c.1042_1049del (p.Lys348Glyfs*32)
Severe
soft tissue bleeds of the mouth, epistaxis
van Wijk et al 2001A
597
NA
F
NA
<3
NA
<1
NA
Heterozygous
c.1852dupC (p.Gln618Profs*3)
Asymptomatic
recurrent epistaxis, joint haematoma
Yamakage et al 2006
Residue Information:
Name
Type
Cyclic
Size
Position
Hydrophobicity
Charge
Wild Type
Tyr
aromatic
cyclic
large
surface
hydrophobic
neutral
Mutated
Cys
-
acyclic
medium
buried
hydrophilic
neutral
Structural Implications:
FV: Tyr1730 is a buried residue  (surface accessibility value = 0 ). FVa: Tyr1730 is a buried residue  (surface accessibility value = 0 ). Tyr1730 is in a region of secondary structure within the FV domains. The DSSP assignment for this residue is ... E.
Hint: Left click mouse | To rotate the structure
Hint: Rotate mousewheel | To zoom in/out the structure
Hint: Right click mouse | to use applet control options
Controls
The molecule can be rotated with the mouse holding the left button and the image can be magnified using the middle mouse button. Note 7KVE is the default structure.
To choose the structure you wish to inspect, please select the Structure at the bottom of the Options menu. If the amino acid is missing from the structure, it will not be labeled and you should select a different structure.
Right Click on the JMOL screen for more options.
Options
Spacefill
Cartoon
Wireframe
Trace
Backbone
Spin
Background
Disulphides
Domains
Alternative Colouring
Labels
Structure
Right Click on the molecule's screen for more options.
NOTE: If no Java applet appears or a Java error message is shown, please click the following LINK .
Factor X Variant Database