IthaID: 999

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Variant of Uncertain Significance
Common Name:	CD 60 GTG>CTG [Val>Leu]	HGVS Name:	HBB:c.181G>C
Hb Name:	Hb Yatsushiro	Protein Info:	β 60(E4) Val>Leu

Context nucleotide sequence:
TGATGCTGTTATGGGCAACCCTAAG [C/G] TGAAGGCTCATGGCAAGAAAGTGCT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKLKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: β60 Val>Leu (both hydrophobic amino acids) results in a moderately unstable β variant and clinically silent phenotype.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
OMIM	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:	70905
Size:	1 bp
Located at:	β
Specific Location:	Exon 2

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	N/A
Ethnic Origin:	Japanese
Molecular mechanism:	Altered heme pocket
Inheritance:	Recessive
DNA Sequence Determined:	No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Kagimoto T, Morino Y, Kishimoto S, A new hemoglobin variant. HB Yatsushiro alpha 2 A beta 2 60 Val replaced by Leu., Biochimica et biophysica acta, 532(1), 195-8, 1978 PubMed
Thein SL, Dominant beta thalassaemia: molecular basis and pathophysiology., Br J Haematol, 80(3), 273-7, 1992 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2022-11-30 14:15:34 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:16	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2022-11-30 14:15:34	The IthaGenes Curation Team	Reviewed. Comment and Reference added.

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