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c.325G>A
p.Ala109Thr (Legacy AA No. 91)
Variant Type:
Point
Domain:
Linker
Codon Change:
G>A
Variant Effect:
Missense
No. of Patients Reported:
11
Phenotype:
I
Allele Count *:
6
Allele Number *:
282654
Allele Frequency *:
0.000021
Variant Comments & Reference:
Being located at the last position of exon 4, within a native donor splice site, this mutation may affect the correct splicing of the F11 mRNA. RT-PCR assays performed on total RNA demonstrated that Ala91Thr abolishes the native donor splice site causing the skipping of the affected exon, eventually resulting in a frameshift followed by a premature termination codon. This mutation is predicted to lead to the synthesis of truncated FXI proteins. Such proteins might be recognised as abnormal by cellular quality control systems, resulting in intracellular retention and protein degradation. Mitchell et al 2006, Guella et al 2008, Duncan et al 2008, Tiscia et al 2017, Esteban et al 2017, Colakoglu et al 2018
