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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02768: Variant p.Gln292Arg

Albumin
Gene: ALB
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Variant information Variant position: help 292
Type of variant: help LB/B
Residue change: help From Glutamine (Q) to Arginine (R) at position 292 (Q292R, p.Gln292Arg).
Physico-chemical properties: help Change from medium size and polar (Q) to large size and basic (R)
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 Malmo-10.
Other resources: help


Sequence information Variant position: help 292
Protein sequence length: help 609
Location on the sequence: help GDLLECADDRADLAKYICEN Q DSISSKLKECCEKPLLEKSH
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 25 – 609 Albumin
Domain 211 – 403 Albumin 2
Binding site 273 – 273
Binding site 273 – 273
Binding site 276 – 276
Binding site 279 – 279
Binding site 283 – 283
Site 286 – 286 Not glycated
Site 298 – 298 Not glycated
Site 310 – 310 Not glycated
Modified residue 297 – 297 Phosphoserine
Glycosylation 300 – 300 N-linked (Glc) (glycation) lysine; in vitro
Glycosylation 305 – 305 N-linked (Glc) (glycation) lysine
Disulfide bond 289 – 303
Alternative sequence 164 – 376 Missing. In isoform 3.
Helix 290 – 294



Literature citations
Alloalbuminemia in Sweden: structural study and phenotypic distribution of nine albumin variants.
Carlson J.; Sakamoto Y.; Laurell C.-B.; Madison J.; Watkins S.; Putnam F.W.;
Proc. Natl. Acad. Sci. U.S.A. 89:8225-8229(1992)
Cited for: VARIANT MALMO-I CYS-23; VARIANT MALMO-95 ASN-87; VARIANT MALMO-10 ARG-292; VARIANT MALMO-47 LYS-342; VARIANT MALMO-5 GLN-400; VARIANT MALMO-61 ALA-574;
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.