IthaID: 764

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Benign / Likely Benign
Common Name:	CD 136 CTG>ATG [Leu>Met]	HGVS Name:	HBA2:c.409C>A
Hb Name:	Hb Chicago	Protein Info:	α2 136(H19) Leu>Met

Context nucleotide sequence:
GTTCCTGGCTTCTGTGAGCACCGTG [C/A] TGACCTCCAAATACCGTTAAGCTGG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVMTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	ClinVar
dbSNP	OMIM
SwissVar

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:	34443
Size:	1 bp
Located at:	α2
Specific Location:	Exon 3

Other details

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

HPLC

Disclaimer: The HPLC images are provided as an information resource only. Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes. D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission. Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc. To access HPLC images and reports for different variants, use the IthaChrom tool.

ID	Hb Variant	Gene	Instrument	Method	Area (%)	Ret Time (min)	Comments
190	Hb Chicago	α2	D-10	Dual Kit Program	82.3	1.69	Heterozygous. Elutes as HbA.	[PDF]
191	Hb Chicago	α2	VARIANT	β-thal Short Program	84	2.47	Heterozygous. Elutes as HbA.	[PDF]
192	Hb Chicago	α2	VARIANT II	β-thal Short Program	85	2.5	Heterozygous. Elutes as HbA.	[PDF]
193	Hb Chicago	α2	VARIANT II	Dual Kit Program	82.3	1.767	Heterozygous. Elutes as HbA.	[PDF]
194	Hb Chicago	α2	VARIANT II	Dual Kit Program	82.3	1.767	Heterozygous. Elutes as HbA.	[PDF]

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

Bowman JE, Bloom R, Chen SS, Webber BB, Wilson JB, Kutlar F, Kutlar A, Huisman TH, HB Chicago or alpha (2)136 (H19) Leu----Met beta 2 and a -G gamma-G gamma-globin gene arrangement in a black family., Hemoglobin , 10(5), 495-505, 1986 PubMed
Gu LH, Wilson JB, Molchanova TP, McKie KM, McKie VC, Huisman TH, Three sickle cell anemia patients each with a different alpha chain variant. Diagnostic complications., Hemoglobin , 17(4), 295-301, 1993 PubMed
Molchanova TP, Pobedimskaya DD, Huisman TH, The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes., Br. J. Haematol. , 88(2), 300-6, 1994 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2020-01-30 09:53:06 (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	2014-04-15 12:17:03	The IthaGenes Curation Team	Reviewed. Added common name, references and ClinVar link.
4	2020-01-30 09:53:06	The IthaGenes Curation Team	Reviewed. Edit

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