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:
GCCTTTAGTGATGGCCTGGCTCACC [T/C] GGACAACCTCAAGGGCACCTTTGCC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHPDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Found as a heterozygote in an otherwise healthy and asymptomatic individual. Perceived as a clinically benign variant, pending assessment in compound heterozygosity with other β-globin variants. The Hb Penang substitution is found within a linking region between helices that may be better able to tolerate deviation in secondary structure.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar

LOVD

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

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:	Southeast Asian
Molecular mechanism:	Altered secondary structure
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

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 2024-02-06 10:48:33 (Show full history)

A/A	Date	Curator(s)	Comments
1	2019-04-05 12:45:18	The IthaGenes Curation Team	Created
2	2019-04-08 13:04:09	The IthaGenes Curation Team	Reviewed. Comment and Reference added.
3	2020-10-13 09:08:49	The IthaGenes Curation Team	Reviewed. Reference corrected.
4	2024-02-06 10:48:33	The IthaGenes Curation Team	Reviewed. Comment added

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