In Depth Variant Analysis:  c.419G>A (p.Cys140Tyr)
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c.419G>A
p.Cys140Tyr (Legacy AA No. 122)
Variant Type:  
Point
Domain:  
Apple 2
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
5
Phenotype: 
I
Allele Count *: 
2
Allele Number *: 
251282
Allele Frequency *: 
0.000008
Variant Comments & Reference:
Cys140 is buried in an alpha-helix of Ap2 and is part of the Cys140-Cys146 conserved disulphide bridge that is (along with two other conserved disulphide bridges) responsible for the correct folding of the Ap domains. Therefore, the Cys140Tyr mutation is likely to significantly impair the folding of the Ap2 domain. Expression studies reveal a secretion defect. Quelin et al 2006, Spena et al 2009Residue Information:
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Substitution Analysis:
Structural Implications:
Cys140 is a buried residue  (surface accessibility value = 0 ).
Cys140 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... H.
Cys140 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... H.
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