NM_000477.5(ALB):c.71G>C (p.Arg24Pro) AND PROALBUMIN TAKEFU

Clinical significance:other (Last evaluated: Jul 1, 1987)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000144687.3

Allele description

NM_000477.5(ALB):c.71G>C (p.Arg24Pro)

Gene:
ALB:albumin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q13.3
Genomic location:
Preferred name:
NM_000477.5(ALB):c.71G>C (p.Arg24Pro)
Other names:
albumin Honolulu 1; proalbumin Takefu
HGVS:
  • NC_000004.12:g.73404398G>C
  • NG_009291.1:g.5144G>C
  • NM_000477.6:c.71G>C
  • NP_000468.1:p.Arg24Pro
  • NC_000004.11:g.74270115G>C
  • NM_000477.5:c.71G>C
  • P02768:p.Arg24Pro
Protein change:
R24P
Links:
UniProtKB: P02768#VAR_000502; OMIM: 103600.0003; dbSNP: rs74821926
NCBI 1000 Genomes Browser:
rs74821926
Molecular consequence:
  • NM_000477.6:c.71G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
PROALBUMIN TAKEFU
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000190020OMIMno assertion criteria providedother
(Jul 1, 1987)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Amino acid substitutions in genetic variants of human serum albumin and in sequences inferred from molecular cloning.

Takahashi N, Takahashi Y, Blumberg BS, Putnam FW.

Proc Natl Acad Sci U S A. 1987 Jul;84(13):4413-7.

PubMed [citation]
PMID:
3474609
PMCID:
PMC305099

Details of each submission

From OMIM, SCV000190020.1

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

Description

Proalbumin Takefu has also been called albumin Honolulu-1. Substitution of proline for arginine at position -1 (Takahashi et al., 1987).

This variant has also been called albumin Honolulu-1.

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

Last Updated: May 7, 2017