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Full registry entry

Patient Id

 UMHA1247

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 9

Affected Codon

 431

Affected nucleotide

 1349

Mutation AA

 Y431C

Mutation Nuc

 1349A>G

Original-final codons

 TAC>TGC

Affected domain

 A2

Refrence

 -

AA change

 Tyr>Cys

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 ?

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 ?

ID

 783

 

   
 

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