NM_000518.5(HBB):c.427G>C (p.Ala143Pro) AND HEMOGLOBIN TOYOAKE

Clinical significance:other (Last evaluated: Dec 12, 2017)

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:
RCV000016628.4

Allele description [Variation Report for NM_000518.5(HBB):c.427G>C (p.Ala143Pro)]

NM_000518.5(HBB):c.427G>C (p.Ala143Pro)

Genes:
LOC110006319:beta-globin gene 3' regulatory region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.5(HBB):c.427G>C (p.Ala143Pro)
Other names:
A142P; Hb Toyoake
HGVS:
  • NC_000011.10:g.5225615C>G
  • NG_000007.3:g.72001G>C
  • NG_046672.1:g.3550C>G
  • NG_053049.1:g.1936C>G
  • NG_059281.1:g.6457G>C
  • NM_000518.5:c.427G>CMANE SELECT
  • NP_000509.1:p.Ala143Pro
  • LRG_1232t1:c.427G>C
  • LRG_1232:g.6457G>C
  • LRG_1232p1:p.Ala143Pro
  • NC_000011.9:g.5246845C>G
  • NM_000518.4:c.427G>C
Protein change:
A143P; ALA142PRO
Links:
HBVAR: 560; OMIM: 141900.0286; dbSNP: rs33931806
NCBI 1000 Genomes Browser:
rs33931806
Molecular consequence:
  • NM_000518.5:c.427G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN TOYOAKE
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000036897OMIMno assertion criteria providedother
(Dec 12, 2017)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Hb Toyoake: beta 142 (H20) Ala replaced by Pro. A new unstable hemoglobin with high oxygen affinity.

Hirano M, Ohba Y, Imai K, Ino T, Morishita Y, Matsui T, Shimizu S, Sumi H, Yamamoto K, Miyaji T.

Blood. 1981 Apr;57(4):697-704.

PubMed [citation]
PMID:
7470620

Functional abnormalities of hemoglobin Toyoake (142 (H20)beta, Ala leads to Pro).

Imai K, Yoshioka Y, Tyuma I, Hirano M.

Biochim Biophys Acta. 1981 Mar 27;668(1):1-15.

PubMed [citation]
PMID:
7236701

Details of each submission

From OMIM, SCV000036897.4

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

Description

See Hirano et al. (1981) and Imai et al. (1981).

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

Last Updated: Sep 29, 2021

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