IthaID: 637

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	CD 84 AGC>AGA [Ser>Arg]	HGVS Name:	HBA1:c.255C>A
Hb Name:	Hb Etobicoke	Protein Info:	α1 84(F5) Ser>Arg

Context nucleotide sequence:
TGCCCAACGCGCTGTCCGCCCTGAG [C/A] GACCTGCACGCGCACAAGCTTCGGG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALRDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
dbSNP	dbSNP
dbSNP	OMIM
SwissVar

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	α-chain variant
Allele Phenotype:	N/A
Stability:	Unstable
Oxygen Affinity:	N/A
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	37949
Size:	1 bp
Located at:	α1
Specific Location:	Exon 2

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	Missense codons (Protein Structure)
Ethnic Origin:	American, Indian, English, French, Irish, Dutch
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

Crookston JH, Farquharson HA, Beale D, Lehmann H, Hemoglobin Etobicoke: alpha-84(F5) serine replaced by arginine., Can. J. Biochem. , 47(2), 143-6, 1969 PubMed
Headlee MG, Nakatsuji T, Lam H, Wrightstone RN, Huisman TH, Hb Etobicoke, alpha 85(F5) Ser leads to Arg found in a newborn of French-Indian-English descent., Hemoglobin , 7(3), 285-7, 1983 PubMed
Harteveld KL, Heister AJ, Giordano PC, Losekoot M, Bernini LF, Rapid detection of point mutations and polymorphisms of the alpha-globin genes by DGGE and SSCA., Hum. Mutat. , 7(2), 114-22, 1996 PubMed
Silva MR, Sendin SM, Viana MB, Hb Etobicoke mutation in a hybrid HBA212 allele [HBA212 84 (F5) Ser>Arg; HBA212:c.255C>G]., Ann Hematol, 91(12), 1971-4, 2012 PubMed
Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2021-04-26 22:22:15 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:16	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2014-04-11 20:32:44	The IthaGenes Curation Team	Reviewed. Added common name and dbSNP links.
4	2018-05-16 19:41:24	The IthaGenes Curation Team	Reviewed. Origin and Reference added.
5	2021-04-07 11:57:39	The IthaGenes Curation Team	Reviewed. HGVS, protein name and Locus location corrected. Reference added.
6	2021-04-26 22:22:15	The IthaGenes Curation Team	Reviewed. Reference added.

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