In Depth Variant Analysis: c.1480+2T>G ()
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c.1480+2T>G
(Legacy AA No. 476)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
T>G
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Zucker et al 2007Residue Information:
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Substitution Analysis:
Structural Implications:
494 is an exposed residue (surface accessibility value = 4 ).
494 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... S.
494 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... S.
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