IthaID: 3722

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 86 GCC>GC-	HGVS Name:	HBB:c.261delC
Hb Name:	N/A	Protein Info:	N/A

Context nucleotide sequence:
GGACAACCTCAAGGGCACCTTTGC [T/-] ACACTGAGTGAGCTGCACTGTGAC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFAQX

Also known as:

Comments: Found in found in a 27-year old pregnant woman with reduced MCV 65 fL, MCH 21.4 pg and HbA 86.5% and increased HbA2 5.4%. Amniocentesis showed that the fetus was compound heterozygous for the novel deletion and the CD 41/42 (‐TTCT) [IthaID: 147], inherited from the father. The woman keeps the fetus and now child shows severe β‐thalassaemia phenotype and needs transfusion therapy every month. The T deletion, causing a frameshift that introduces a premature stop codon two amino acids further down the new reading frame.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group:	Thalassaemia
Hemoglobinopathy Subgroup:	β-thalassaemia
Allele Phenotype:	N/A
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	70985
Size:	1 bp
Located at:	β
Specific Location:	Exon 2

Other details

Type of Mutation:	Point-Mutation(Deletion)
Effect on Gene/Protein Function:	Frameshift (Translation)
Ethnic Origin:	Chinese
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Zhang H, Li C, Li J, Hou S, Chen D, Yan H, Chen S, Liu S, Yin Z, Yang X, Tan J, Huang X, Zhang L, Fang J, Zhang C, Li W, Guo J, Lei D, Next-generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China., J Clin Lab Anal, 33(4), e22845, 2019 PubMed

Created on 2021-01-30 15:01:31, Last reviewed on 2021-02-01 12:33:18 (Show full history)

A/A	Date	Curator(s)	Comments
1	2021-01-30 15:01:31	The IthaGenes Curation Team	Created
2	2021-02-01 12:33:18	The IthaGenes Curation Team	Reviewed. Protein info corrected.

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