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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P68871: Variant p.Asn58Lys

Hemoglobin subunit beta
Gene: HBB
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Variant information Variant position: help 58
Type of variant: help LB/B
Residue change: help From Asparagine (N) to Lysine (K) at position 58 (N58K, p.Asn58Lys).
Physico-chemical properties: help Change from medium size and polar (N) to large size and basic (K)
BLOSUM score: help 0
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-ferrara; unstable.
Other resources: help


Sequence information Variant position: help 58
Protein sequence length: help 147
Location on the sequence: help WTQRFFESFGDLSTPDAVMG N PKVKAHGKKVLGAFSDGLAH
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 147 Hemoglobin subunit beta
Domain 3 – 147 Globin
Binding site 64 – 64 distal binding residue
Site 57 – 58 (Microbial infection) Cleavage; by N.americanus apr-2
Site 60 – 60 Not glycated
Modified residue 45 – 45 Phosphoserine
Modified residue 51 – 51 Phosphothreonine
Modified residue 60 – 60 N6-acetyllysine
Glycosylation 67 – 67 N-linked (Glc) (glycation) lysine



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.