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Full registry entry

Patient Id

 URHA318

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 11

Affected Codon

 557

Affected nucleotide

 1726

Mutation AA

 E557K

Mutation Nuc

 1726G>A

Original-final codons

 GAA>AAA

Affected domain

 A2

Refrence

 -

AA change

 Glu>Lys

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 16

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 179

 

   
 

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