In Depth Variant Analysis: c.1135+5G>A ()
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c.1135+5G>A
(Legacy AA No. 360)
Variant Type:
Point
Domain:
Intronic
Codon Change:
G>A
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
6
Allele Number *:
281714
Allele Frequency *:
0.000021
Variant Comments & Reference:
Saunders et al 2009Residue Information:
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Substitution Analysis:
Structural Implications:
378 is an exposed residue (surface accessibility value = 2 ).
378 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
378 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
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