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UniProtKB/Swiss-Prot O14773: Variant p.Pro544Ser

Tripeptidyl-peptidase 1
Gene: TPP1
Variant information

Variant position:  544
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Proline (P) to Serine (S) at position 544 (P544S, p.Pro544Ser).
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:  Change from medium size and hydrophobic (P) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In CLN2; displays residual enzyme activity; effectively transported to the lysosome.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  544
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  563
The length of the canonical sequence.

Location on the sequence:   ESCLDEEVEGQGFCSGPGWD  P VTGWGTPNFPALLKTLLNP
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         ESCLDEEV----------EGQGFCSGPGWD---PVTGWGTPNFPALLKTLLNP-----

                              ESCLNEEV----------QGQGFCSGPGWD---PVTGWGT

Chimpanzee                    ESCLDEEV----------EGQGFCSGPGWD---PVTGWGT

Mouse                         ESCLNEEV----------EGQGFCSGPGWD---PVTGWGT

Rat                           ESCLNEEV----------EGQGFCSGPGWD---PVTGWGT

Bovine                        ESCLNEEV----------EGQGFCSGPGWD---PVTGWGT

Zebrafish                     LSCLDDKV----------EGKGFCASPSWD---PVTGWGT

Slime mold                    KCCTN----------------GFKSKSGWD---PVTGLGL

Baker's yeast                 ----------------------------------------

Fission yeast                 DRTDEDMFRSLHKNTRINKETSFAVTIGSDKKLSIADWCI

Sequence annotation in neighborhood:  
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 196 – 563 Tripeptidyl-peptidase 1
Domain 199 – 563 Peptidase S53
Metal binding 539 – 539 Calcium; via carbonyl oxygen
Metal binding 541 – 541 Calcium; via carbonyl oxygen
Metal binding 543 – 543 Calcium
Turn 544 – 546


Literature citations

Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.
Walus M.; Kida E.; Golabek A.A.;
Hum. Mutat. 31:710-721(2010)
Cited for: VARIANT CLN2 SER-544; CHARACTERIZATION OF VARIANTS CLN2 ARG-77; GLN-127; LEU-202; CYS-206; MET-277; VAL-284; SER-286; ASN-287; LYS-343; ARG-365; HIS-422; HIS-447; LEU-475 AND SER-544;

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.