IthaID: 3399


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 9 TCT>TC- HGVS Name: HBB:c.30delT
Hb Name: Hb Antep Protein Info: β 9 (-T); modified C-terminal sequence: (9)Ser-Pro-Leu-Leu-Pro-Cys-Gly-Ala-Arg-(18)COOH

Context nucleotide sequence:
CATCTGACTCCTGAGGAGAAGTC [T/-] GCCGTTACTGCCCTGTGGGGCAAGG (Strand: -)

Comments: Found in a compound heterozygous state with a β0 mutation.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70624
Size: 1 bp
Located at: β
Specific Location: Exon 1

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Turkish
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Unknown

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Created on 2019-04-11 16:26:21, Last reviewed on (Show full history)

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