IthaID: 1302


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 144 (-A) HGVS Name: HBB:c.434delA
Hb Name: Hb Trento Protein Info: β 144 (-A); modified C-terminal sequence: (144)Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser- Asn-Phe-(156)Tyr-COOH

Context nucleotide sequence:
GGTGTGGCTAATGCCCTGGCCCACA [-/A] GTATCACTAAGCTCGCTTTCTTGCT (Strand: -)

Also known as:

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 72008
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Italain
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Ivaldi G, David O, Baffico M, Leone D, Baldi M, Parodi MI, Scimè-Degani V, Piga A, Scagni P, Rabino-Massa E, Ricco G, Hb Trento: an elongated C-terminal beta chain due to a new frameshift mutation [beta144 (-A)]., Hemoglobin, 27(1), 15-25, 2003
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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