Variant: rs1216516070

present in Gene: F9 present in Chromosome: X Position on Chromosome: 139548387 Alleles of this Variant: G/A

rs1216516070 in F9 gene and Hemophilia B PMID 2372509 1990 A mutation adjacent to the beta cleavage site of factor IX (valine 182 to leucine) results in mild haemophilia Bm.

PMID 2162822 1990 Mutations in hemophilia Bm occur at the Arg180-Val activation site or in the catalytic domain of factor IX.

PMID 1958666 1991 Factor IX Amagasaki: a new mutation in the catalytic domain resulting in the loss of both coagulant and esterase activities.

PMID 1346975 1992 Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX.

PMID 8680410 1995 Twenty-five novel mutations of the factor IX gene in haemophilia B.

PMID 9452115 1998 Five novel factor IX mutations in unrelated hemophilia B patients.

PMID 2775660 1989 Factor IX Cardiff: a variant factor IX protein that shows abnormal activation is caused by an arginine to cysteine substitution at position 145.

PMID 2773937 1989 Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.

PMID 2472424 1989 Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins.

PMID 11122099 2000 Factor IX gene sequencing by a simple and sensitive 15-hour procedure for haemophilia B diagnosis: identification of two novel mutations.

PMID 3401602 1988 Genetic defect responsible for the dysfunctional protein: factor IXLong Beach.

PMID 25470321 2015 Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B.

PMID 9600455 1998 Germline mutations in Peruvian patients with hemophilia B: pattern of mutation in AmerIndians is similar to the putative endogenous germline pattern.

PMID 2714791 1989 Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior.

PMID 8076946 1994 Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications.

PMID 8295821 1993 The Arg-4 mutant factor IX Strasbourg 2 shows a delayed activation by factor XIa.

PMID 6603618 1983 Identification of the molecular defect in factor IX Chapel Hill: substitution of histidine for arginine at position 145.

PMID 25251685 2014 Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations.

PMID 9169594 1997 Modification of the N-terminus of human factor IX by defective propeptide cleavage or acetylation results in a destabilized calcium-induced conformation: effects on phospholipid binding and activation by factor XIa.

PMID 2592373 1989 Blood clotting factor IX BM Nagoya. Substitution of arginine 180 by tryptophan and its activation by alpha-chymotrypsin and rat mast cell chymase.