IthaID: 1445



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 92 CAC>TAC HGVS Name: HBG2:c.277C>T
Hb Name: Hb F-M-Fort Ripley Protein Info: Gγ 92(F8) His>Tyr

Context nucleotide sequence:
CACCTTTGCCCAGCTGAGTGAACTG [C/T] ACTGTGACAAGCTGCATGTGGATCC (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELYCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 43286
Size: 1 bp
Located at:
Specific Location: Exon 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: American, Canadian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Priest JR, Watterson J, Jones RT, Faassen AE, Hedlund BE, Mutant fetal hemoglobin causing cyanosis in a newborn., Pediatrics, 83(5), 734-6, 1989 PubMed
  2. Molchanova TP, Wilson JB, Gu LH, Hain RD, Chang LS, Poon AO, Huisman TH, A second observation of the fetal methemoglobin variant Hb F-M-Fort Ripley or alpha 2G gamma 2(92)(F8)His----Tyr., Hemoglobin, 16(5), 389-98, 1992 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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