IthaID: 696

Names and Sequences

Functionality:	Globin gene causative mutation
Common Name:	CD 103 CAC>TAC [His>Tyr]	HGVS Name:	HBA2:c.310C>T
Hb Name:	Hb Lombard	Protein Info:	α2 103(G10) His>Tyr

Context nucleotide sequence:
CCTCTTCTCTGCACAGCTCCTAAGC [C/T] ACTGCCTGCTGGTGACCCTGGCCGC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSYCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

External Links

HbVar	ClinVar
dbSNP	OMIM

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	34344
Size:	1 bp
Located at:	α2
Specific Location:	Exon 3

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	α-chain variant
Allele Phenotype:	N/A
Stability:	Unstable
Oxygen Affinity:	N/A
Associated Phenotypes:	N/A

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	Missense codons (Protein Structure)
Ethnic Origin:	Italian
Inheritance:	Recessive
DNA Sequence Determined:	Yes
Detection Methods:	Direct DNA sequencing

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
165	Hb Lombard	α2	D-10	Dual Kit Program	0.5	2.55	Heterozygous. Elutes as a shoulder in the descending part of the HbA peak.	[PDF]
169	Hb Lombard	α2	VARIANT II	Dual Kit Program	87.9	1.809	Heterozygous. Elutes as a shoulder in the descending part of the HbA peak.	[PDF]
166	Hb Lombard	α2	VARIANT	β-thal Short Program	87	2.45	Heterozygous. Elutes with HbA.	[PDF]
167	Hb Lombard	α2	VARIANT II	β-thal Short Program	88.8	2.55	Heterozygous. Elutes as a shoulder in the descending part of the HbA peak.	[PDF]

Sequence Viewer

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Publications / Origin

Hoyer JD, McCormick DJ, Snow K, Kwon JH, Booth D, Duarte M, Grayson G, Kubik KS, Holmes MW, Fairbanks VF, Four new variants of the alpha2-globin gene without clinical or hematologic effects: Hb Park Ridge [alpha9(alpha7)Asn-->Lys (alpha2)], Hb Norton [alpha72(EF1)His-->Asp (alpha2)], Hb Lombard [alpha103(G10)His-->Tyr (alpha2)], and Hb San Antonio [A113(GH2)Leu-->Arg (A2)]., Hemoglobin , 26(2), 175-9, 2002 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2015-12-03 16:44:05 (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	2014-04-14 16:29:20	The IthaGenes Curation Team	Reviewed. Added common name, reference and ClinVar link.
4	2015-12-03 16:44:05	The IthaGenes Curation Team	Reviewed. Allele phenotype updated

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