IthaID: 739

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 126 GAC>TΑC [Asp>Tyr]	HGVS Name:	HBA1:c.379G>T
Hb Name:	Hb Montefiore	Protein Info:	α1 126(H9) Asp>Tyr
Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Context nucleotide sequence:
CACCCCTGCGGTGCACGCCTCCCTG [G/T] ACAAGTTCCTGGCTTCTGTGAGCAC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLYKFLASVSTVLTSKYR

External Links

HbVar	dbSNP
OMIM	SwissVar
ClinVar

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	38224
Size:	1 bp
Located at:	α1, α1 or α2
Specific Location:	Exon 3

Other details

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

In silico pathogenicity prediction

Publications / Origin

Wajcman H, Kister J, Galactéros F, Spielvogel A, Lin MJ, Vidugiris GJ, Hirsch RE, Friedman JM, Nagel RL, Hb Montefiore (126(H9)Asp-->Tyr). High oxygen affinity and loss of cooperativity secondary to C-terminal disruption., J. Biol. Chem. , 271(38), 22990-8, 1996
Zhou X, Chen T, Zhang Q, Qi M, Zhang L, Du J, Chi H, Shen B, Xu X, Lu Y, De novo HBB frameshift mutation in a patient with dominant β-thalassemia major., Int J Lab Hematol, 44(1), e21-e25, 2022

Created on 2010-06-16 16:13:16, Last reviewed on 2022-03-02 09:50:23 (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	2014-04-15 09:23:56	The IthaGenes Curation Team	Reviewed. Added common name, allele phenotype, reference and ClinVar link.
4	2018-02-05 17:48:49	The IthaGenes Curation Team	Reviewed. Common name corrected.
5	2022-03-01 23:48:03	The IthaGenes Curation Team	Reviewed. HGVS. protein names, chromosome and locus location corrected. Reference added.
6	2022-03-02 09:50:23	The IthaGenes Curation Team	Reviewed. Affected gene corrected.

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