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
Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAAFTPAVHASLDKFLASVSTVLTSKYR

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

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

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 PubMed
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 PubMed
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 PubMed

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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