IthaID: 674



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 94 GAC>AAC [Asp>Asn] HGVS Name: HBA2:c.283G>A
Hb Name: Hb Titusville Protein Info: α2 94(G1) Asp>Asn

Context nucleotide sequence:
CCTGCACGCGCACAAGCTTCGGGTG [A/C/G/T] ACCCGGTCAACTTCAAGGTGAGCGG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVNPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34175
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Phenotype

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

Other details

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

Sequence Viewer

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Publications / Origin

  1. Schneider RG, Atkins RJ, Hosty TS, Tomlin G, Casey R, Lehmann H, Lorkin PA, Nagai K, Haemoglobin Titusville: alpha94 Asp replaced by Asn. A new haemoglobin with a lowered affinity for oxygen., Biochim. Biophys. Acta , 400(2), 365-73, 1975 PubMed
  2. Luo HY, Irving I, Prior J, Lim E, Eung SH, Skelton TP, Erber WN, Steinberg MH, Chui DH, Hemoglobin Titusville, a low oxygen affinity variant hemoglobin, in a family of Northern European background., Am. J. Hematol. , 77(4), 384-6, 2004 PubMed
  3. Moradkhani K, Préhu C, Old J, Henderson S, Balamitsa V, Luo HY, Poon MC, Chui DH, Wajcman H, Patrinos GP, Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants., Ann. Hematol. , 88(6), 535-43, 2009 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-06-05 12:08:59 (Show full history)

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