In-Depth Variant Analysis:  c.424G>A (p.Glu142Lys)
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c.424G>A
p.Glu142Lys (Legacy AA No. 102)
Variant Type: 
Point
Domain: 
EGF-2
Location: 
Exon 5
Variant Effect: 
Missense
Codon Change: 
G>A
No. of Patients Reported: 
12
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
(FX Vorarlberg). Legacy cDNA numbering in Marchetti paper - Leytus et al 1986 (c.449G>A)Residue Information:
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Substitution Analysis:
Structural Implications:
Glu142 is an exposed residue  (surface accessibility value = 4 ).
Glu142 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... E.
Glu142 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... E.
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