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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02768: Variant p.Arg24Gln

Albumin
Gene: ALB
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Variant information Variant position: help 24 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Arginine (R) to Glutamine (Q) at position 24 (R24Q, p.Arg24Gln). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

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. Additional information on the polymorphism described.
Variant description: help In Christchurch/Honolulu-2. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 24 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 609 The length of the canonical sequence.
Location on the sequence: help VTFISLLFLFSSAYSRGVFR R DAHKSEVAHRFKDLGEENFK The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Sequence annotation in neighborhood: help The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.
TypePositionsDescription
Propeptide 19 – 24
Domain 19 – 210 Albumin 1
Binding site 27 – 27
Binding site 30 – 30
Binding site 37 – 37
Site 28 – 28 Not glycated
Site 44 – 44 Not glycated
Modified residue 29 – 29 Phosphoserine; by FAM20C
Glycosylation 36 – 36 N-linked (Glc) (glycation) lysine



Literature citations
Identical structural changes in inherited albumin variants from different populations.
Arai K.; Ishioka N.; Huss K.; Madison J.; Putnam F.W.;
Proc. Natl. Acad. Sci. U.S.A. 86:434-438(1989)
Cited for: VARIANT FUKUOKA-2 HIS-23; VARIANT CHRISTCHURCH/HONOLULU-2 GLN-24; VARIANT TAGLIACOZZO ASN-337; VARIANT ALBUMIN B/OSAKA-2/PHNOM PHEN LYS-594; Point substitutions in Japanese alloalbumins.
Arai K.; Madison J.; Huss K.; Ishioka N.; Satoh C.; Fujita M.; Neel J.V.; Sakurabayashi I.; Putnam F.W.;
Proc. Natl. Acad. Sci. U.S.A. 86:6092-6096(1989)
Cited for: VARIANT HONOLULU-2 GLN-24; VARIANT NAGASAKI-1 GLY-293; VARIANT HIROSHIMA-1 LYS-378; VARIANT TOCHIGI LYS-400; VARIANT HIROSHIMA-2 LYS-406; VARIANT OSAKA-2 LYS-594; Point substitutions in albumin genetic variants from Asia.
Arai K.; Madison J.; Shimuzu A.; Putnam F.W.;
Proc. Natl. Acad. Sci. U.S.A. 87:497-501(1990)
Cited for: VARIANT HONOLULU-1 PRO-24; VARIANT HONOLULU-2 GLN-24; VARIANT NAGOYA LYS-143; VARIANT NEW GUINEA ASN-337; VARIANT MANAUS-1/LAMBADI LYS-525; VARIANT FUKUOKA-1 ASN-587; VARIANT OSAKA-1 LYS-589; VARIANT OSAKA-2 LYS-594; Genetic variants of human serum albumin in Italy: point mutants and a carboxyl-terminal variant.
Madison J.; Galliano M.; Watkins S.; Minchiotti L.; Porta F.; Rossi A.; Putnam F.W.;
Proc. Natl. Acad. Sci. U.S.A. 91:6476-6480(1994)
Cited for: VARIANT LARINO TYR-27; VARIANT TRADATE-2 GLN-249; VARIANT CASERTA ASN-300;
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.