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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P68871: Variant p.Gly26Arg

Hemoglobin subunit beta
Gene: HBB
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Variant information Variant position: help 26
Type of variant: help LB/B
Residue change: help From Glycine (G) to Arginine (R) at position 26 (G26R, p.Gly26Arg).
Physico-chemical properties: help Change from glycine (G) to large size and basic (R)
BLOSUM score: help -2
Polymorphism: help Genetic variations in HBB are involved in resistance to malaria [MIM:611162]. Hemoglobin S (Hb S), which at homozygosity is responsible for sickle cell anemia, is not associated with any clinical abnormality when heterozygous. At heterozygosity, Hb S confers an increase in protection from life-threatening malaria. Additional variants conferring resistance against severe malaria are hemoglobin C (Hb C) and hemoglobin E (Hb E).
Variant description: help In G-Taiwan Ami.
Other resources: help


Sequence information Variant position: help 26
Protein sequence length: help 147
Location on the sequence: help PEEKSAVTALWGKVNVDEVG G EALGRLLVVYPWTQRFFESF
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 147 Hemoglobin subunit beta
Domain 3 – 147 Globin
Site 26 – 27 (Microbial infection) Cleavage; by N.americanus apr-2
Modified residue 10 – 10 Phosphoserine
Modified residue 13 – 13 Phosphothreonine
Modified residue 45 – 45 Phosphoserine
Glycosylation 9 – 9 N-linked (Glc) (glycation) lysine
Glycosylation 18 – 18 N-linked (Glc) (glycation) lysine
Helix 21 – 35



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.