IthaID: 1121

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Variant of Uncertain Significance
Common Name:	CD 95 AAG>AAY [Lys>Asn]	HGVS Name:	HBB:c.288G>Y
Hb Name:	Hb Detroit	Protein Info:	β 95(FG2) Lys>Asn

Context nucleotide sequence:
CACTGAGTGAGCTGCACTGTGACAA [G>C] CTGCACGTGGATCCTGAGAACTTCA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDNLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Reported as a β95 (FG2) Lys>Asn [AAG>AAC or AAT] change by amino acid analysis in a female subject from India without hematological abnormalities. The variant Hb was detected by cellulose acetate electrophoresis and column chromatography on DEAE-Sephadex. It was shown to migrate between Hb A and Hb J Baltimore. Could not be detected by electrophoresis on citrate agar gel. Hb stability tests and oxygen affinity studies were normal.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
OMIM	SwissVar
LOVD

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	β-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:	71012
Size:	1 bp
Located at:	β
Specific Location:	Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Moo-Penn WF, Schneider RG, Andrian S, Das DK, Hemoglobin Detroit: beta95 (FG2) lysine leads to asparagine., Biochimica et biophysica acta, 536(1), 283-8, 1978 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2023-06-09 13:12:42 (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	2023-06-09 13:08:45	The IthaGenes Curation Team	Reviewed. HGVS name and DNA info corrected. Reference added.
4	2023-06-09 13:12:42	The IthaGenes Curation Team	Reviewed. Text edits

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