IthaID: 719

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Variant of Uncertain Significance
Common Name:	CD 116 GAG>GCG [Glu>Ala]	HGVS Name:	HBA1:c.350A>C
Hb Name:	Hb Ube-4	Protein Info:	α1 116(GH4) Glu>Ala

Context nucleotide sequence:
ACCCTGGCCGCCCACCTCCCCGCCG [A/C] GTTCACCCCTGCGGTGCACGCCTCC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAAFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	ClinVar
dbSNP	dbSNP
OMIM	SwissVar

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	38195
Size:	1 bp
Located at:	α1
Specific Location:	Exon 3

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	Missense codons (Protein Structure)
Ethnic Origin:	Japanese, Korean
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Publications / Origin

Ohba Y, Miyaji T, Matsuoka M, Morito M, Iuchi I, Characterization of Hb Ube-4: alpha 116 (GH4) Glu yield Ala., Hemoglobin , 2(2), 181-6, 1978
Iuchi I, Hidaka K, Ueda S, Shibata S, Hitomi F, Takesue A, Hb Ube-4 (alpha 116 Glu leads to Ala): a second independent instance found in a Korean family of Japan., Hemoglobin , 2(6), 561-3, 1978
Huang Y, Lin M, Lin CP, Wu JR, Zheng LH, Yang LY, Molecular characteristics of three hemoglobin variants observed in a Chinese population: Hb Ube-1 [β98 (FG5) Val→Met], Hb Ube‑2 [α68 (E17) Asn→Asp] and Hb Ube‑4 [α116 (GH4) Glu→Ala]., Mol Med Rep, 4(4), 681-5, 2011

Created on 2010-06-16 16:13:16, Last reviewed on 2021-04-07 12:31:42 (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	2014-04-14 17:33:29	The IthaGenes Curation Team	Reviewed. Added common name, references and ClinVar link.
4	2021-04-07 12:31:12	The IthaGenes Curation Team	Reviewed. HGVS, protein name and Locus location corrected. Reference added.
5	2021-04-07 12:31:42	The IthaGenes Curation Team	Reviewed. Allele corrected.

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