IthaID: 3952

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 85 GAC>AAC [Asp>Asn]	HGVS Name:	HBA2:c.256G>A
Hb Name:	Hb G-Norfolk	Protein Info:	α2 85(F6) Asp>Asn

Context nucleotide sequence:
GCCCAACGCGCTGTCCGCCCTGAGC [G/A] ACCTGCACGCGCACAAGCTTCGGGT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSNLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Abnormal hemoglobin peak was found at 4.059 min by HPLC.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	α-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:	16
Locus:	NG_000006.1
Locus Location:	34148
Size:	1 bp
Located at:	α2
Specific Location:	Exon 2

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	Missense codons (Protein Structure)
Ethnic Origin:	Chinese
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Publications / Origin

Luo S, Chen X, Zeng D, Tang N, Yuan D, Zhong Q, Mao A, Xu R, Yan T, The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation., J Hum Genet, 67(4), 183-195, 2022

Microattributions

A/A	Contributor(s)	Date	Comments
1	Luo, Shiqiang	2022-08-01	First report.

Created on 2022-08-04 12:04:23, Last reviewed on 2022-09-16 08:43:34 (Show full history)

A/A	Date	Curator(s)	Comments
1	2022-08-04 12:04:23	The IthaGenes Curation Team	Created
2	2022-08-04 12:08:08	The IthaGenes Curation Team	Reviewed. Link added.
3	2022-08-04 12:09:58	The IthaGenes Curation Team	Reviewed. Allele phenotype added.
4	2022-08-04 12:13:17	The IthaGenes Curation Team	Reviewed.
5	2022-08-05 10:27:20	The IthaGenes Curation Team	Reviewed. Origin added.
6	2022-09-16 08:43:34	The IthaGenes Curation Team	Reviewed.

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