In Depth Variant Analysis: c.303G>C (p.Trp101Cys)

  c.303G>C
p.Trp101Cys (Legacy AA No. 41)
Mutation Type:
Point
Domain:
Gla
Codon Change:
TGC > TGG
Mutation Effect:
Missense
Location:
Exon(4)
No of bases:
1
No. of patients reported:
1

Patient Information : Show

Residue Information :

  Name Type Cyclic Size Hydrophobicity Charge
Wild Type
Trp
aromatic
cyclic
large
hydrophobic
neutral
Mutated
-
-
-
-
-
-

Substitution Analysis :


Structural Implications :

  • Trp101 is shown below as a red sphere.
  • Trp101 is an exposed residue(the surface accessibility from the FVII structure is 6).
  • Trp101is in a region of secondary structure within the FVII domains (the DSSP assignment from the modelled FVII domains is H).

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    Factor VII Variant Database