IthaID: 3864



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 116 GAG>TAG [Glu>Stop] HGVS Name: HBA1:c.349G>T
Hb Name: N/A Protein Info: α1 116(GH4) Glu>STOP

Context nucleotide sequence:
GACCCTGGCCGCCCACCTCCCCGCC [G>T] AGTTCACCCCTGCGGTGCACGCCTC

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAX

Also known as:

Comments: Found in a newborn through a thalassaemia screening program performing genetic testing by next-generation sequencing and gap-polymerase chain reaction. At 2-year-old the proband presented with abnormal hematological indices.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:N/A
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 38194
Size: 1 bp
Located at: α1
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Nonsense codon (Translation)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Yin Z, Hao Y, Huang X, Chen X, Chen S, Li G, Chen C, Wei F, A Novel Mutation at HBA1:c.349G>T Causing α-Thalassemia in a Chinese Family., Hemoglobin, 45(2), 94-96, 2021 PubMed
Created on 2021-09-30 08:40:16, Last reviewed on (Show full history)

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