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UniProtKB/Swiss-Prot O14773: Variant p.Lys428Asn

Tripeptidyl-peptidase 1
Gene: TPP1
Variant information

Variant position:  428
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 Lysine (K) to Asparagine (N) at position 428 (K428N, p.Lys428Asn).
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 large size and basic (K) to medium size and polar (N)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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.
Any additional useful information about the variant.



Sequence information

Variant position:  428
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:   SGGGFSNVFPRPSYQEEAVT  K FLSSSPHLPPSSYFNASGRA
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                         SGGGFSNVFPRPSYQEEAVTKFLSSSPHLPPSS---YF--NASGRA

                              SGGGFSNVFPQPSYQEEAVVQFLSSSPHLPPSS---YF--N

Chimpanzee                    SGGGFSNVFPRPSYQEEAVTKFLSSSPHLPPSS---YF--N

Mouse                         SGGGFSNVFPRPPYQEEAVAQFLKSSSHLPPSS---YF--N

Rat                           SGGGFSNVFPQPSYQEEAVAQFLKSSSHLPPSS---YF--N

Bovine                        SGGGFSNVFPRPSYQEEAVTRYLSSSPHLPPSS---YF--N

Zebrafish                     SGGGFSNVFPMPDYQVDAVRAYLKSVQSLPPQT---YF--N

Slime mold                    SGGGFSNYFSRPWYQVDECSSYIEWLNG-SLSS---FY--N

Baker's yeast                 --SPIKLNWI--------------------------YYCGD

Fission yeast                 AADPKNQVWIISGRDQQFLRNWMDDIKGLGLSAEHGSFVRK

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
Glycosylation 443 – 443 N-linked (GlcNAc...) asparagine
Disulfide bond 365 – 526
Helix 423 – 432


Literature citations

Heterogeneity of late-infantile neuronal ceroid lipofuscinosis.
Zhong N.; Moroziewicz D.N.; Ju W.; Jurkiewicz A.; Johnston L.; Wisniewski K.E.; Brown W.T.;
Genet. Med. 2:312-318(2000)
Cited for: VARIANTS CLN2 GLN-127; VAL-284; ASN-428 AND ARG-473;

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.