In-Depth Variant Analysis:  c.1059C>G (p.Phe353Leu)

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  c.1059C>G
p.Phe353Leu (Legacy AA No. 325)
Variant Type: 
Point
Domain: 
d5A2
Location: 
Exon 7
Variant Effect: 
Missense
Codon Change: 
1059C>G
No. of Patients Reported: 
4
Phenotype: 
Moderate
Allele Count *: 
3
Allele Number *: 
251444
Allele Frequency *: 
0.000012

Variant Comments & Reference:

NA

Patient Information: Show


Residue Information:




  Name Type Cyclic Size Position Hydrophobicity Charge
Wild Type
Phe
aromatic
cyclic
large
buried
hydrophobic
neutral
Mutated
Leu
aliphatic
acyclic
large
buried
hydrophobic
neutral


Substitution Analysis:



  • Grantham Score : 22
  • PolyPhen-2 Prediction : probably damaging (SCORE: 1.000)
  • SIFT Prediction : Probably Damaging (SCORE: 0.01)
  • PROVEAN Prediction : Deleterious (SCORE: -4.916)

  • Structural Implications:


    FV: Phe353 is a buried residue  (surface accessibility value = 0 ).

    FVa: Phe353 is a buried residue  (surface accessibility value = 1 ).

    Phe353 is in a region of secondary structure within the FV domains.

    The DSSP assignment for this residue is ... E.

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