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

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
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
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
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

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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