IthaID: 3608


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 50 (TCT>TGT);CD 75(ATA>ACA) HGVS Name: HBG2:c.[152C>G;227T>C]
Hb Name: Hb F-Madrid Protein Info: Gγ 50(D1) Ser>Cys;Gγ 75(E19) Ile>Thr

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSCASAIMGNPKVKAHGKKVLTSLGDATKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH

Also known as:

Comments: The structural hemoglobin variant of Gγ with two amino acid replacements in cis found in the umbilical cord blood of a neonate in Madrid. The neonate born after a normal 40-week gestation and the main abnormal feature was a decreased MCV of 76 fl, at 1.5 years old. The neonate also carried the –α3.7 deletion.

External Links

No available links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 43161
Size: 1 bp
Located at:
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Spanish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Hojas R, Villegas A, Ropero P, Valverde F, Nogales A, González FA, José C, Villar L, García C, Two new mutations in cis on (G)gamma chain of fetal hemoglobin: Hb F-Madrid [G gamma 50(D1)Ser-->Cys] and [G gamma 75(E19)Ile-->Thr]., Ann. Hematol., 82(3), 181-3, 2003
Created on 2020-08-07 14:14:11, Last reviewed on (Show full history)

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