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NM_000133.4(F9):c.138G>Y (p.Arg46Ser) AND Hereditary factor IX deficiency disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 1986
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000011311.4

Allele description [Variation Report for NM_000133.4(F9):c.138G>Y (p.Arg46Ser)]

NM_000133.4(F9):c.138G>Y (p.Arg46Ser)

Gene:
F9:coagulation factor IX [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq27.1
Genomic location:
Preferred name:
NM_000133.4(F9):c.138G>Y (p.Arg46Ser)
Other names:
F9, ARG-1SER; factor IX Cambridge
HGVS:
  • NC_000023.11:g.139537059G>Y
  • NG_007994.1:g.11324G>Y
  • NM_000133.4:c.138G>YMANE SELECT
  • NM_001313913.2:c.138G>Y
  • NP_000124.1:p.Arg46Ser
  • NP_000124.1:p.Arg46Ser
  • NP_001300842.1:p.Arg46Ser
  • LRG_556t1:c.138G>Y
  • LRG_556:g.11324G>Y
  • LRG_556p1:p.Arg46Ser
  • NC_000023.10:g.138619218G>Y
  • NM_000133.3:c.138G>Y
Note:
NCBI staff provided an HGVS expression for allelic variant 300746.0009 from the sequence reported in Figure 5 of the paper by Diuguid et al., 1986 (PubMed 3461460).
Protein change:
R46S
Links:
LOVD 3: F9_001150; OMIM: 300746.0009
Molecular consequence:
  • NM_000133.4:c.138G>Y - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001313913.2:c.138G>Y - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary factor IX deficiency disease (HEMB)
Synonyms:
F9 DEFICIENCY; PLASMA THROMBOPLASTIN COMPONENT DEFICIENCY; Hemophilia B; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010604; MeSH: D002836; MedGen: C0008533; Orphanet: 98879; OMIM: 306900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000031539OMIM
no assertion criteria provided
Pathogenic
(Aug 1, 1986) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Molecular basis of hemophilia B: a defective enzyme due to an unprocessed propeptide is caused by a point mutation in the factor IX precursor.

Diuguid DL, Rabiet MJ, Furie BC, Liebman HA, Furie B.

Proc Natl Acad Sci U S A. 1986 Aug;83(16):5803-7.

PubMed [citation]
PMID:
3461460
PMCID:
PMC386383

Details of each submission

From OMIM, SCV000031539.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Diuguid et al. (1986) found that mutant factor IX Cambridge, isolated from a patient with severe hemophilia B (306900), has an 18-residue propeptide attached to its NH2-end. A point mutation at residue -1, from arginine to serine, precluded cleavage of the propeptide by the processing protease and interfered also with gamma-carboxylation of the mutant factor IX. The last effect indicates the importance of the leader sequence in substrate recognition by the vitamin K-dependent carboxylase.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2024