IthaID: 3586



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 85 TTT>TTG [Phe>Leu] HGVS Name: HBB:c.258T>G
Hb Name: Hb Kennisis Protein Info: β 85(F1)Phe>Leu

Context nucleotide sequence:
CACCTGGACAACCTCAAGGGCACCTT [T>G] GCCACACTGAGTGAGCTGCACTGT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTLATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Found in a heterozygous state in a 61-year-old Canadian male of Maltese descent presenting with high Hb concentration on routine blood work. Low p50 level suggestive of a high oxygen affinity Hb variant. Normal isopropanol and heat stability tests.

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: 70982
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: Maltese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Nabhani IA, Aneke JC, Verhovsek M, Eng B, Kuo KHM, Rudinskas LC, Waye JS, Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TT>TT); : c.258T>G]., Hemoglobin, 2020 PubMed
Created on 2020-04-30 20:23:02, Last reviewed on 2020-04-30 20:23:45 (Show full history)

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