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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P23919: Variant p.Asp128Asn

Thymidylate kinase
Gene: DTYMK
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Variant information Variant position: help 128 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 Aspartate (D) to Asparagine (N) at position 128 (D128N, p.Asp128Asn). 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 medium size and acidic (D) to medium size and polar (N) 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
Variant description: help In CONPM; loss of catalytic activity in patient fibroblasts. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 128 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 212 The length of the canonical sequence.
Location on the sequence: help AKENFSLDWCKQPDVGLPKP D LVLFLQLQLADAAKRGAFGH 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                         AK--ENFSLDWCKQPDVGLPKPDLVLFLQLQ-LADAAKRGAFGH

Mouse                         AK--ENFSLDWCKQPDVGLPKPDLILFLQLQ-LLDAAARGE

Zebrafish                     AK--PGFSLEWCMNPDVGLPKPDLVMFLQLN-PNVAANRGE

Caenorhabditis elegans        AK---GLPEQWVRSSDVGLPKPDAVLFFDVS-PEVAAQRGG

Drosophila                    AK---GLDFDWCYAPERGLIKPDAVFYLRAP-PNDLTHRGQ

Slime mold                    AK---GIDFDWCYACEKGLPKPDLIFYLSMS-SEDATKRGE

Baker's yeast                 AKGTNGMDLDWCLQPDVGLLKPDLTLFLSTQDVDNNAEKSG

Fission yeast                 AK---GLDWEWCKSPDRGLPRPDLVIFLNVD-PRIAATRGQ
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 – 212 Thymidylate kinase
Alternative sequence 111 – 134 Missing. In isoform 2.
Beta strand 128 – 134



Literature citations
DTYMK is essential for genome integrity and neuronal survival.
Vanoevelen J.M.; Bierau J.; Grashorn J.C.; Lambrichs E.; Kamsteeg E.J.; Bok L.A.; Wevers R.A.; van der Knaap M.S.; Bugiani M.; Frisk J.H.; Colnaghi R.; O'Driscoll M.; Hellebrekers D.M.E.I.; Rodenburg R.; Ferreira C.R.; Brunner H.G.; van den Wijngaard A.; Abdel-Salam G.M.H.; Wang L.; Stumpel C.T.R.M.;
Acta Neuropathol. 143:245-262(2022)
Cited for: INVOLVEMENT IN CONPM; VARIANTS CONPM LEU-81 AND ASN-128; FUNCTION; CATALYTIC ACTIVITY; CHARACTERIZATION OF VARIANTS CONPM LEU-81 AND ASN-128;
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.