Search Results:
1 unique variant retrieved.
Terms with a '* ' next to them are explained on the Help Page .
c.901T>C
p.Phe301Leu (Legacy AA No. 283)
Variant Effect: 
Missense
No. of Patients Reported: 
22
Allele Number *: 
282824
Allele Frequency *: 
0.001050
Variant Comments & Reference:
Jewish Type III. Mutant protein was secreted at reduced levels (8%) compared to wild type. Northern blot analysis demonstrated that wild type and mutant protein generated similar amounts of mRNA. Meijers et al 1992, Kravtsov et al 2004, Tiscia et al 2017
Patient Information:
Show
Patient_ID
Age
Gender
Race
FXI:C%
FXI:Ag(%)
Inheritance
Other Variants
Severity
Comments
Reference
17
67
M
Jewish
<3
<5
Compound heterozygote
c.403G>T (p.Glu135*)
Severe
History of postoperative and posttraumatic bleeding requiring multiple transfusions of fresh frozen plasma.
Martincic et al 1998
18
42
F
Caucasian
4
Compound heterozygote
c.1026dupG
Severe
Mild bleeding after dental surgery
Dossenbach-Glaninger et al 2001
76
36
M
Ashkenazi Jewish
<10
<10
Compound heterozygote
c.403G>T (p.Glu135*)
Severe
Trivial - few mild but insignificant bleeding episodes.
Asakai et al 1989
77
50
F
Ashkenazi Jewish
<10
<10
Compound heterozygote
c.403G>T (p.Glu135*)
Severe
None
Asakai et al 1989
79
55
F
Ashkenazi Jewish
<10
<10
Homozygote
Severe
Mild - few episodes of mild but significant bleeding
Asakai et al 1989
80
48
F
Ashkenazi Jewish
<10
<10
Compound heterozygote
c.403G>T (p.Glu135*)
Severe
Moderate - recurrent episodes of moderately severe bleeding, sometimes requiring a blood transfusion.
Asakai et al 1989
81
64
F
Ashkenazi Jewish
<10
<10
Compound heterozygote
c.403G>T (p.Glu135*)
Severe
Moderate - recurrent episodes of moderately severe bleeding, sometimes requiring a blood transfusion.
Asakai et al 1989
112
F
Caucasian
76
Heterozygote
Mild
Mild bleeding during and after abdominal surgery
Dossenbach-Glaninger et
al 2001
113
M
Caucasian
87
Heterozygote
Mild
No evidence of abnormal bleeding
Dossenbach-Glaninger et al 2001
283
53
F
Italian
2
6
Compound heterozygote
Not Reported
Menorrhagia. Minor bleeding not requiring substitutive treatment
Castaman et al 2008
444
6
Compound heterozygote
c.403G>T (p.Glu135*)
Not Reported
Saunders et al 2009
447
3
Compound heterozygote
c.403G>T (p.Glu135*)
Not Reported
Saunders et al 2009
453
35
Heterozygote
Not Reported
Saunders et al 2009
454
7
Homozygote
Not Reported
Saunders et al 2009
455
48
Heterozygote
Not Reported
Saunders et al 2009
459
33
F
Ashkenazi Jewish
9
9
Compound heterozygote
c.1021G>A (p.Glu341Lys)
Not Reported
Epistaxis
Zucker et al 2007
477
40
F
Czech
2
2
Compound heterozygote
c.1288G>A (p.Ala430Thr)
Not Reported
Epistaxis, post-operative bleeding and bleeding following tooth extraction. Patient also suffers from menorrhagia and experienced postpartum bleeding.
Castaman et al 2008
490
F
1
<1
Compound heterozygote
c.1489C>T (p.Arg497*)
Not Reported
No bleeding following dental extraction. Bleeding following delivery - no therapy. Easy bruising.
Quelin et al 2009
544
19
F
Italian
4
Compound heterozygote
c.595+3A>G
Not Reported
Asymptomatic
Tiscia et al 2017
545
54
M
Italian
51
Heterozygote
Not Reported
Asymptomatic
Tiscia et al 2017
547
12
F
Italian
6
Compound heterozygote
c.1556G>A (p.Trp519*)
Not Reported
Surgery-related bleeding
Tiscia et al 2017
549
36
F
Italian
85
Heterozygote
Not Reported
Asymptomatic
Tiscia et al 2017
Structural Interpretation:
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Factor XI Variant Database