IthaID: 3371

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 78 CTG>CCG [Leu>Pro] HGVS Name: HBB:c.236T>C
Hb Name: Hb Penang Protein Info: β 78(EF2) Leu>Pro

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found as a heterozygote in an otherwise healthy and asymptomatic individual. Perceived as a clinically benign variant, pending its assessment in compound heterozygosity with other β-globin mutations.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70960
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: Chinese
Molecular mechanism: Altered secondary structure
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Hsu CH, Langdown J, Lynn R, Fisher C, Rose A, Proven M, Eglinton J, Besser MW, Hb Penang [β78(EF2)Leu→Pro, HBB: c.236T>C]: a Novel β-Globin Variant., Hemoglobin, 42(3), 199-202, 2018 PubMed
Created on 2019-04-05 12:45:18, Last reviewed on 2020-10-13 09:08:49 (Show full history)

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