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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02768: Variant p.Asn342Lys

Albumin
Gene: ALB
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Variant information Variant position: help 342
Type of variant: help LB/B
Residue change: help From Asparagine (N) to Lysine (K) at position 342 (N342K, p.Asn342Lys).
Physico-chemical properties: help Change from medium size and polar (N) to large size and basic (K)
BLOSUM score: help 0
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-47.
Other resources: help


Sequence information Variant position: help 342
Protein sequence length: help 609
Location on the sequence: help MPADLPSLAADFVESKDVCK N YAEAKDVFLGMFLYEYARRH
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 25 – 609 Albumin
Domain 211 – 403 Albumin 2
Glycosylation 337 – 337 N-linked (Glc) (glycation) lysine; in vitro
Glycosylation 341 – 341 N-linked (Glc) (glycation) lysine
Glycosylation 342 – 342 N-linked (GlcNAc...) asparagine; in variant Redhill
Glycosylation 347 – 347 N-linked (Glc) (glycation) lysine; in vitro
Disulfide bond 340 – 385
Alternative sequence 164 – 376 Missing. In isoform 3.
Helix 339 – 344



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.