NM_000518.5(HBB):c.128T>C (p.Phe43Ser) AND HEMOGLOBIN CHIBA

This record was updated by the submitter. Please see the current version.

Germline classification:: other (1 submission)
Last evaluated:: Dec 12, 2017
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:: RCV000016372.5

Allele description

NM_000518.5(HBB):c.128T>C (p.Phe43Ser)

Genes:

LOC106099062:HBB recombination 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.128T>C (p.Phe43Ser)

Other names:

F42S

HGVS:

NC_000011.10:g.5226764A>G
NG_000007.3:g.70852T>C
NG_042296.1:g.295A>G
NG_046672.1:g.4699A>G
NG_059281.1:g.5308T>C
NM_000518.5:c.128T>CMANE SELECT
NP_000509.1:p.Phe43Ser
NP_000509.1:p.Phe43Ser
LRG_1232t1:c.128T>C
LRG_1232:g.5308T>C
LRG_1232p1:p.Phe43Ser
NC_000011.9:g.5247994A>G
NM_000518.4:c.128T>C
P68871:p.Phe43Ser

Protein change:

F43S; PHE42SER

Links:

UniProtKB: P68871#VAR_035239; OMIM: 141900.0100; dbSNP: rs34378160

NCBI 1000 Genomes Browser:

rs34378160

Molecular consequence:

NM_000518.5:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN CHIBA
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036640	OMIM	no assertion criteria provided	other (Dec 12, 2017)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 1173714, 1164567, 3260032 Dacie, J. V., Shinton, N. K., Gaffney, P. J., Jr., Carrell, R. W., Lehmann, H. Haemoglobin Hammersmith (beta 42 (CD 1) phe to ser). Nature 216: 663-665, 1967.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036640

OMIM

no assertion criteria provided

other
(Dec 12, 2017)

germline

literature only

PubMed (3)
[See all records that cite these PMIDs]

Dacie, J. V., Shinton, N. K., Gaffney, P. J., Jr., Carrell, R. W., Lehmann, H. Haemoglobin Hammersmith (beta 42 (CD 1) phe to ser). Nature 216: 663-665, 1967.

Help

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

Hemoglobin Toluchi: beta 131 glutamine leads to glutamic acid, an example of Hb Camden in Japan.

Ohba Y, Miyaji T, Matsuoka M, Ueda S, Iuchi I, Shibata S.

Nihon Ketsueki Gakkai Zasshi. 1975 Feb;38(1):1-7. No abstract available.

PubMed [citation]

PMID:: 1173714

A Swiss family with hemoglobin P Galveston beta117His leads to Arg, including two patients with hb P/beta thalassemia.

Di Iorio EE, Winterhalter KH, Wilson K, Rosenmund A, Marti HR.

Blut. 1975 Aug;31(2):61-8.

PubMed [citation]

PMID:: 1164567

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000036640.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

Description

The normal phenylalanine at this site apparently 'stabilizes' the heme with which it is in contact. The substitution of serine leads to severe Heinz body hemolytic anemia. See Dacie et al. (1967), Ohba et al. (1975), and Rahbar et al. (1981). Dianzani et al. (1991) demonstrated a de novo phe42-to-ser mutation using the chemical cleavage of mismatch method (CCM) of Cotton et al. (1988). The responsible substitution was a TTT-to-TCT change. The report of rare cases of this hemoglobinopathy in different ethnic groups also supports the occurrence of independent mutations.

#	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: Jun 18, 2022

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