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NM_001081.3(CUBN):c.3890C>T (p.Pro1297Leu) AND Megaloblastic anemia 1, Finnish type

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 15, 2000
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:
RCV000007077.2

Allele description

NM_001081.3(CUBN):c.3890C>T (p.Pro1297Leu)

Gene:
CUBN:cubilin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p13
Genomic location:
Preferred name:
NM_001081.3(CUBN):c.3890C>T (p.Pro1297Leu)
HGVS:
  • NC_000010.11:g.17041160G>A
  • NG_008967.1:g.93658C>T
  • NM_001081.3:c.3890C>T
  • NP_001072.2:p.Pro1297Leu
  • LRG_540t1:c.3890C>T
  • LRG_540:g.93658C>T
  • LRG_540p1:p.Pro1297Leu
  • NC_000010.10:g.17083159G>A
  • O60494:p.Pro1297Leu
Protein change:
P1297L; PRO1297LEU
Links:
UniProtKB: O60494#VAR_025288; OMIM: 602997.0001; dbSNP: rs121434430
NCBI 1000 Genomes Browser:
rs121434430
Molecular consequence:
  • NM_001081.3:c.3890C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Megaloblastic anemia 1, Finnish type
Identifiers:
MedGen: C4016819

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000027273OMIM
no assertion criteria provided
Pathogenic
(Jul 15, 2000) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.

Aminoff M, Carter JE, Chadwick RB, Johnson C, Gräsbeck R, Abdelaal MA, Broch H, Jenner LB, Verroust PJ, Moestrup SK, de la Chapelle A, Krahe R.

Nat Genet. 1999 Mar;21(3):309-13.

PubMed [citation]
PMID:
10080186

Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin.

Kristiansen M, Aminoff M, Jacobsen C, de La Chapelle A, Krahe R, Verroust PJ, Moestrup SK.

Blood. 2000 Jul 15;96(2):405-9.

PubMed [citation]
PMID:
10887099

Details of each submission

From OMIM, SCV000027273.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In 16 of 17 Finnish families segregating megaloblastic anemia-1 (261100), Aminoff et al. (1999) found that 31 of 34 disease chromosomes carried a 3916C-T transition in the CUBN gene, resulting in a pro1297-to-leu amino acid substitution in cubilin. The mutation was found in only 1 of 316 control Finnish chromosomes. All parents were heterozygous.

By site-directed mutagenesis, mammalian expression, and functional comparison of the purified wildtype and Finnish mutant forms of the IF-cobalamin-binding region of cubilin (amino acids 928-1386), Kristiansen et al. (2000) investigated the functional implications of the P1297L mutation. They found that the mutation impairs recognition of intrinsic factor-vitamin B12 complex by cubilin.

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

Last Updated: Apr 18, 2020