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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02768: Variant p.Glu84Lys

Albumin
Gene: ALB
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Variant information Variant position: help 84
Type of variant: help LB/B
Residue change: help From Glutamate (E) to Lysine (K) at position 84 (E84K, p.Glu84Lys).
Physico-chemical properties: help Change from medium size and acidic (E) to large size and basic (K)
BLOSUM score: help 1
Polymorphism: help A variant structure of albumin could lead to increased binding of zinc resulting in an asymptomatic augmentation of zinc concentration in the blood. The sequence shown is that of variant albumin A.
Variant description: help In Torino.
Other resources: help


Sequence information Variant position: help 84
Protein sequence length: help 609
Location on the sequence: help VKLVNEVTEFAKTCVADESA E NCDKSLHTLFGDKLCTVATL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 25 – 609 Albumin
Domain 19 – 210 Albumin 1
Binding site 91 – 91
Site 65 – 65 Not glycated
Site 88 – 88 Not glycated
Site 97 – 97 Not glycated
Modified residue 82 – 82 Phosphoserine; by FAM20C
Modified residue 89 – 89 Phosphoserine; by FAM20C
Glycosylation 75 – 75 N-linked (Glc) (glycation) lysine; in vitro
Disulfide bond 77 – 86
Alternative sequence 43 – 234 Missing. In isoform 2.
Mutagenesis 91 – 91 H -> A. Impairs metal binding.
Turn 84 – 87



Literature citations
Mutations in genetic variants of human serum albumin found in Italy.
Galliano M.; Minchiotti L.; Porta F.; Rossi A.; Ferri G.; Madison J.; Watkins S.; Putnam F.W.;
Proc. Natl. Acad. Sci. U.S.A. 87:8721-8725(1990)
Cited for: VARIANT VARESE HIS-23; VARIANT TORINO LYS-84; VARIANT VIBO VALENTIA LYS-106;
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.