IthaID: 766

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 136 CTG>CGG [Leu>Arg]	HGVS Name:	HBA1:c.410T>G \| HBA2:c.410T>G
Hb Name:	Hb Toyama	Protein Info:	α2 or α1 136(H19) Leu>Arg

Context nucleotide sequence:
TTCCTGGCTTCTGTGAGCACCGTGC [C/G/T] GACCTCCAAATACCGTTAAGCTGGA (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVRTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	ClinVar
dbSNP	dbSNP
OMIM

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	α-chain variant
Allele Phenotype:	N/A
Stability:	Unstable
Oxygen Affinity:	N/A
Associated Phenotypes:	Haemolytic anaemia [HP:0001878]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	34444 or 38255
Size:	1 bp or 1 bp
Located at:	α1 or α2
Specific Location:	Exon 3

Other details

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

In silico pathogenicity prediction

Publications / Origin

Ohba Y, Yamamoto K, Hattori Y, Kawata R, Miyaji T, Hyperunstable hemoglobin Toyama [alpha 2 136(H19)Leu----Arg beta 2]: detection and identification by in vitro biosynthesis with radioactive amino acids., Hemoglobin , 11(6), 539-56, 1987

Created on 2010-06-16 16:13:16, Last reviewed on 2021-02-02 16:58:51 (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	2014-04-15 12:20:52	The IthaGenes Curation Team	Reviewed. Added common name, allele and clinical phenotype, reference and ClinVar link.
4	2021-02-02 16:58:12	The IthaGenes Curation Team	Reviewed.
5	2021-02-02 16:58:51	The IthaGenes Curation Team	Reviewed. Specific location added.

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