In Depth Variant Analysis:  c.1693G>A (p.Glu565Lys)
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c.1693G>A
p.Glu565Lys (Legacy AA No. 547)
Variant Type:  
Point
Domain:  
Serine Protease
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
10
Phenotype: 
I
Allele Count *: 
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Allele Number *: 
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Allele Frequency *: 
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Variant Comments & Reference:
Responsible for an aberrant splicing in which exon 13 is skipped. Saunders et al 2009, Esteban et al 2017Residue Information:
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Substitution Analysis:
Structural Implications:
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