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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P55263: Variant p.Phe319Ser

Adenosine kinase
Gene: ADK
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Variant information Variant position: help 319 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Phenylalanine (F) to Serine (S) at position 319 (F319S, p.Phe319Ser). 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 aromatic (F) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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
Variant description: help In HMAKD; abolished ability to mediate phosphorylation of unmodified and modified adenosines. Any additional useful information about the variant.


Sequence information Variant position: help 319 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 362 The length of the canonical sequence.
Location on the sequence: help FAVLDQDQKEIIDTNGAGDA F VGGFLSQLVSDKPLTECIRA 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.
Residue conservation: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         FAVLDQDQKEIIDTNGAGDAFVGGFLSQLVSDKPLTECIRA

Mouse                         FPVLDQNQEEIIDTNGAGDAFVGGFLSQLVSDKPLTECIRA

Rat                           FPVLDQNQEEIVDTNGAGDAFVGGFLSQLVSNKPLTECIRA

Slime mold                    YNPIKVATEDILDLNAAGDSFCGGFLAAYSNGQEIAKCVEA

Baker's yeast                 YPVKPLDSSKIVDTNGAGDAFAGGFMAGLTKGEDLETSIDM

Fission yeast                 YKPNRVPSEEIVDTNGAGDAFAGGFIAALSQGQGIDYAVTL
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
Chain 2 – 362 Adenosine kinase
Active site 317 – 317 Proton acceptor
Binding site 317 – 317
Mutagenesis 313 – 313 N -> A. Decreased ability to phosphorylate N(6),N(6)-dimethyladenosine (m6,6A) and N(6)-isopentenyladenosine (i6A).
Mutagenesis 317 – 317 D -> A. Abolished ability to mediate phosphorylation of unmodified and modified adenosines.
Helix 312 – 327



Literature citations
Adenosine kinase and ADAL coordinate detoxification of modified adenosines to safeguard metabolism.
Ogawa A.; Watanabe S.; Ozerova I.; Tsai A.Y.; Kuchitsu Y.; Chong H.B.; Kawakami T.; Fuse J.; Han W.; Kudo R.; Naito T.; Sato K.; Nakazawa T.; Saheki Y.; Hirayama A.; Stadler P.F.; Arisawa M.; Araki K.; Bar-Peled L.; Taguchi T.; Sawa S.; Inaba K.; Wei F.Y.;
Cell 0:0-0(2025)
Cited for: FUNCTION; CATALYTIC ACTIVITY; MUTAGENESIS OF LEU-33; ASP-35; LEU-57; ALA-153; LEU-155; PHE-187; PHE-218; ASN-313 AND ASP-317; CHARACTERIZATION OF VARIANTS HMAKD GLU-30; ALA-235; GLU-318; SER-319 AND ARG-341;
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.
Staufner C.; Lindner M.; Dionisi-Vici C.; Freisinger P.; Dobbelaere D.; Douillard C.; Makhseed N.; Straub B.K.; Kahrizi K.; Ballhausen D.; la Marca G.; Koelker S.; Haas D.; Hoffmann G.F.; Gruenert S.C.; Blom H.J.;
J. Inherit. Metab. Dis. 39:273-283(2016)
Cited for: VARIANTS HMAKD 84-GLN--HIS-362 DEL; SER-319; 326-GLN--HIS-362 DEL AND ARG-341;
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.