IthaID: 3951



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 129-133 (-CCTATCAGAAAGT) HGVS Name: HBB:c.389_401del
Hb Name: Hb Phoenix Protein Info: β 129-133; modified C-terminal sequence: (129)Gly-Trp-Leu-Val-Trp-Leu-Met-Pro-Trp-Pro-Thr-Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser-Asn-Phe-Tyr-(153)COOH

Context nucleotide sequence:
CCAGTGCAGGCTG [CCTATCAGAAAGT/-] GGTGGCTGGTGTG (Strand: -)

Also known as:

Comments: The 13bp deletion, causes a frameshift that abolishes the normal stop codon and elongates the protein by introducing a new stop codon twenty-four amino acids further down the new reading frame.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71963
Size: 13 bp
Located at: β
Specific Location: Exon 3

Other details

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

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Created on 2022-08-03 10:34:10, Last reviewed on (Show full history)

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