NM_000133.4(F9):c.1307C>T (p.Ala436Val) AND Hereditary factor IX deficiency disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 1988
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:: RCV000011369.6

Allele description [Variation Report for NM_000133.4(F9):c.1307C>T (p.Ala436Val)]

NM_000133.4(F9):c.1307C>T (p.Ala436Val)

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.1307C>T (p.Ala436Val)

Other names:

F9, ALA390VAL; A390V

HGVS:

NC_000023.11:g.139561992C>T
NG_007994.1:g.36257C>T
NM_000133.4:c.1307C>TMANE SELECT
NM_001313913.2:c.1193C>T
NP_000124.1:p.Ala436Val
NP_001300842.1:p.Ala398Val
LRG_556:g.36257C>T
NC_000023.10:g.138644151C>T
P00740:p.Ala436Val

Protein change:

A398V; ALA390VAL

Links:

UniProtKB: P00740#VAR_006616; OMIM: 300746.0067; dbSNP: rs137852266

NCBI 1000 Genomes Browser:

rs137852266

Molecular consequence:

NM_000133.4:c.1307C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001313913.2:c.1193C>T - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031601	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 1988)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 3243764, 734633 Spitzer, S. G., Warn-Cramer, B. J., Kasper, C. C., Pendurthi, U. R., Bajaj, S. P. Mutations in the catalytic domain of factor IXa which prevent macromolecular catalysis. (Abstract) Circulation 78 (suppl. II): 118, 1988.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000031601

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 1988)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Spitzer, S. G., Warn-Cramer, B. J., Kasper, C. C., Pendurthi, U. R., Bajaj, S. P. Mutations in the catalytic domain of factor IXa which prevent macromolecular catalysis. (Abstract) Circulation 78 (suppl. II): 118, 1988.

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Blood clotting factor IX Niigata: substitution of alanine-390 by valine in the catalytic domain.

Sugimoto M, Miyata T, Kawabata S, Yoshioka A, Fukui H, Takahashi H, Iwanaga S.

J Biochem. 1988 Dec;104(6):878-80.

PubMed [citation]

PMID:: 3243764

The abnormal factor IX of hemophilia B+ variants.

Bertina RM, Veltkamp JJ.

Thromb Haemost. 1978 Oct 31;40(2):335-49.

PubMed [citation]

PMID:: 734633

Details of each submission

From OMIM, SCV000031601.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

Spitzer et al. (1988) found substitution of valine for alanine at position 390, resulting from a single base substitution (C-to-T) in exon 8. Sugimoto et al. (1988) demonstrated substitution of valine for alanine at position 390 in the catalytic domain as the molecular defect in factor IX Niigata. The patient had a moderately severe form of hemophilia B (306900) with a normal level of factor IX antigen but very low clotting activity.

Bertina et al. (1990) referred to this mutation as factor IX Lake Elsinore.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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