IthaID: 1409

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 7 GAC>AAC	HGVS Name:	HBG2:c.22G>A
Hb Name:	Hb F-Auckland	Protein Info:	Gγ 7(A4) Asp>Asn

Context nucleotide sequence:
CGCCATGGGTCATTTCACAGAGGAG [A/G] ACAAGGCTACTATCACAAGCCTGTG (Strand: -)

Protein sequence:
MGHFTEENKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
OMIM	SwissVar

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	γ-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:	42909
Size:	1 bp
Located at:	Gγ
Specific Location:	Exon 1

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	N/A
Ethnic Origin:	USA, New Zealand
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Carrell RW, Owen MC, Anderson R, Berry E, Haemoglobin F auckland G gamma 7 Asp leads to Asn: further evidence for multiple genes for the gamma chain., Biochimica et biophysica acta, 365(2), 323-7, 1974 PubMed
Chen SS, Wilson JB, Webber BB, Kutlar A, Huisman TH, Hb F-Auckland [alpha 2G gamma 2(7)(A4)Asp----Asn] observed in a Caucasian newborn from Alabama., Hemoglobin, 9(5), 531-3, 1985 PubMed

Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:17	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.

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