IthaID: 3371

Names and Sequences

Functionality: Globin gene causative mutation
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:

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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70960
Size: 1 bp
Located at: β
Specific Location: Exon 2


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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Chinese
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Unknown

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Chen JK, Xin XQ, Huang JG, A Novel β-Thalassemia Mutation in a Chinese family: IVS-II-203-205 (TCT>CC) (HBB: c.315+203TCT>CC)., Hemoglobin, 42(3), 159-160, 2018 PubMed
Created on 2019-04-05 12:45:18, Last reviewed on 2019-04-08 13:04:09 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.

Please publish modules in offcanvas position.