Factor X Variant Database
Variant
ID: 141
Type Point
Effect Missense
cDNA Change c.1120T>C
Amino Acid Change p.(Ser374Pro) (Legacy AA No. 334)
Domain Serine Protease
Sequence Context TCC > CCC
Location Exon 8
Minor Allele Frequency (MAF)
Pathogenicity (ACMG)Definition Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic TBA
Comments on Variant FX Marsiglia (aka Marseille): suggested circulation of dysfunctional variant (Vianello 2001); defective activation by FIXa or RVV (Bezeaud 1995)

For missense variants click here to view amino-acid sequence comparison.

The details of the cases reported with the above variant are listed below

Case ID Other Variants
found in case
Genotype FX:C (%) intrinsic FX:C (%) extrinsic FX:C (%) RVV FX:C (%) unknown FX:Ag (%) Reported
Bleeding Severity
Gender of Case Published Reference Comments on Case
178
-
Heterozygous 78 70 62 87 Not Reported Female Vianello et al 2002 Same case as mother (case 144) of a proband in Vianello 2001 PMID: 11728527
174
1
Heterozygous 8 19 12 40 Not Reported Female Vianello et al 2002 Same case as proband (case 142) in Vianello 2001 PMID: 11728527
145
-
Heterozygous 66 65 62 82 Asymptomatic Female Vianello et al 2001 Sister of case 142
144
-
Heterozygous 78 70 62 87 Asymptomatic Female Vianello et al 2001 Mother of case 142
142
1
Heterozygous 8 19 12 40 Asymptomatic Female Vianello et al 2001 No bleeding tendency: referred after prolonged PT noted after spontaneous abortion
40
-
Heterozygous 52 44 55 106 Asymptomatic Not Reported Marchetti et al 1995
37
1
Heterozygous 20 56 54 72 Asymptomatic Male Marchetti et al 1995 Brother of case 38
38
1
Heterozygous 26 56 68 66 Asymptomatic Female Marchetti et al 1995 Sister of case 37
39
-
Heterozygous 52 76 78 74 Asymptomatic Female Marchetti et al 1995 Mother of case 37
36
-
Heterozygous 61 52 43 100 Asymptomatic Female Marchetti et al 1995 35 is first cousin; mother of case 34
34
-
Homozygous 15 22 23 80 Asymptomatic Male Marchetti et al 1995 Consanguineous asymptomatic parents cases 35 & 36
35
-
Heterozygous 55 56 45 90 Asymptomatic Male Marchetti et al 1995 36 is first cousin; father of case 34
29
-
Homozygous 21 21 26 107 Asymptomatic Female Bezeaud et al 1995
26
-
Heterozygous 43 80 Asymptomatic Male Bernardi et al 1994 Son 2 of case 21
25
-
Heterozygous 55 90 Asymptomatic Male Bernardi et al 1994 Son 1 of case 21
24
-
Heterozygous 61 100 Asymptomatic Female Bernardi et al 1994 Mother of case 21: first cousin of father
22
-
Homozygous 27 13 80 Asymptomatic Male Bernardi et al 1994 Brother of case 21
23
-
Heterozygous 55 90 Asymptomatic Male Bernardi et al 1994 Father of case 21: first cousin of mother
21
-
Homozygous 22 15 80 Asymptomatic Male Bernardi et al 1994 Proband