IthaID: 3362


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 34 CTG>CCG [Leu>Pro] HGVS Name: HBA2:c.104T>C
Hb Name: Hb Bass Hill Protein Info: α2 34(B15) Leu>Pro

Context nucleotide sequence:
TCTGCTTCTCCCCGCAGGATGTTCC [T/C] GTCCTTCCCCACCACCAAGACCTAC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFPSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Found in a heterozygous state in a pregnant proband. Because of the associated α-thal -3.7 Kb (type I) deletion, it is unclear whether Hb Bass Hill is associated or not to microcytosis.

External Links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33996
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Iraqi 
Molecular mechanism: Altered secondary structure
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Created on 2019-04-04 16:12:44, Last reviewed on (Show full history)

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