RF Logo The European Association for Haemophilia and Allied Disorders Factor VII Variant Database EAHAD Coagulation Variant Databases
Factor VII Variant Database
Variant
ID: 96 		cDNA Change c.1074G>A
Amino Acid Change p.Met358Ile (Legacy AA No. 298)
Type Point
Effect Missense
Domain Serine Protease
Sequence Context ATG > ATA
Location Exon( 9)
Minor Allele Frequency (MAF) 6.8E-5

The details of the cases reported with the above variant is as below

Case ID Other Variants found in case Genotype FVII:C (%) FVII:Ag (%) Reported Clinical Severity Reference Comments
TF-Unknown TF-Human TF-Rabbit
258 7 Heterozygous 1 9 asymptomatic Giansily-Blaizot et al 2001
277 6 Heterozygous 5 mild Giansily-Blaizot et al 2001
331 4 Homozygous 6 85 mild Bernardi et al 1994a
122 1 Heterozygous 60 unknown Bernardi et al 1994a
123 1 Heterozygous 46 unknown Bernardi et al 1994a
124 1 Heterozygous 51 unknown Bernardi et al 1994a
125 1 Heterozygous 61 unknown Bernardi et al 1994a
231 1 Heterozygous 36 unknown Bernardi et al 1994a
330 1 Heterozygous 46 unknown Bernardi et al 1994a
121 7 Heterozygous 41 asymptomatic Wulff et al 2000
62 3 Heterozygous 50 mild Millar et al 2000
120 3 Heterozygous 25 unknown Millar et al 2000
384 6 Homozygous 5 76 mild Giansily-Blaizot et al 2001
367 6 Heterozygous 3 37 asymptomatic Giansily-Blaizot et al 2001 other mutation unknown
418 1 Homozygous 7 136 Asymptomatic Borensztajn et al 2005
454 2 Heterozygous 3 UK Asymptomatic Sabater-Lleal et al 2003
678 1 Heterozygous UK UK Asymptomatic Herrmann et al 2009
679 1 Heterozygous UK UK Asymptomatic Herrmann et al 2009
680 1 Heterozygous UK UK Asymptomatic Herrmann et al 2009
681 1 Heterozygous 30_<50 UK Mild Herrmann et al 2009
802 1 Heterozygous 26 UK Mild Elmahmoudi et al 2012
509 2 Heterozygous 41 UK Asymptomatic Herrmann et al 2000