IthaID: 639

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	CD 85 GAC>AAC [Asp>Asn]	HGVS Name:	HBA1:c.256G>A
Hb Name:	Hb G-Norfolk	Protein Info:	α1 85(F6) Asp>Asn

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

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSNLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

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:	N/A
Oxygen Affinity:	Increased Oxygen Affinity
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	37952
Size:	1 bp
Located at:	α1
Specific Location:	Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

Lorkin PA, Huntsman RG, Ager JA, Lehmann H, Vella F, Darbre PD, Haemoglobin G Norfolk: alpha 85 (F6) Asp leads to Asn., Biochim. Biophys. Acta , 379(1), 22-7, 1975 PubMed
Cohen-Solal M, Manesse B, Thillet J, Rosa J, Haemoglobin G Norfolk alpha 85 (F6) Asp leads to Asn. Structural characterization by sequenator analysis and functional properties of a new variant with high oxygen affinity., FEBS Lett. , 50(2), 163-7, 1975 PubMed
Khalil MS, Timbs A, Henderson S, Schuh A, Hussein MR, Old J, Haemoglobin (Hb) G-Philadelphia, Hb Stanleyville-II, Hb G-Norfolk, Hb Matsue-Oki and Hb Mizushi can form a panel of α-chain variants that overlap in their phenotype: the novel use of StyI to screen for Hb G-Philadelphia., Int J Lab Hematol, 33(3), 318-25, 2011 PubMed
Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2021-04-07 11:59:38 (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	2014-04-11 20:37:19	The IthaGenes Curation Team	Reviewed. Added common name and dbSNP link.
4	2014-06-04 11:32:42	The IthaGenes Curation Team	Reviewed. ClinVar link added.
5	2021-04-07 11:59:38	The IthaGenes Curation Team	Reviewed. HGVS, protein name and Locus location corrected. References added.

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