IthaID: 3918



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 37 TGG>TTG [Trp>Leu] HGVS Name: HBB:c.113G>T
Hb Name: Hb Alessandria Protein Info: β 37(C3) Trp>Leu

Context nucleotide sequence:
CTTAGGCTGCTGGTGGTCTACCCTT [G/T] GACCCAGAGGTTCTTTGAGTCCTTT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPLTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Found in a case with normal haematological indices and no clinical complications. Protein stability was normal and oxygen affinity was found to be slightly increased. Hb variant was detected by capillary electrophoresis during the measurement of HbA1c with the relative amount of Hb Alessandria being 39.9%. Hb variant did not separate from HbA using HPLC method.

External Links

No available links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70837
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Italian
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To the best of our knowledge, this is unpublished data.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!

Microattributions

A/AContributor(s)DateComments
1Maffei, Massimo2022-04-28First report.
Created on 2022-05-02 11:43:56, Last reviewed on 2022-05-02 11:45:51 (Show full history)

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