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UniProtKB/Swiss-Prot O14773: Variant p.Gln100Arg

Tripeptidyl-peptidase 1
Gene: TPP1
Variant information

Variant position:  100
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Glutamine (Q) to Arginine (R) at position 100 (Q100R, p.Gln100Arg).
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 polar (Q) to large size and basic (R)
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

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

Sequence information

Variant position:  100
The position of the amino-acid change on the UniProtKB canonical protein sequence.

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

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.



Chimpanzee                    LTLENVADLVR---PSP---------LTLRTVQKWLLAAGA

Mouse                         LTLEDVAELVQ---PSP---------LTLLTVQKWLSAAGA

Rat                           LTLEDVAELVQ---PSP---------LTLRTVQKWLLAAGA

Bovine                        LTLEDVAELVR---PSP---------LTLHTVQKWLLAAGA

Zebrafish                     LSLDEVAALSR---PSP---------LTEKVVENWLRSHGV

Slime mold                    KTFEEIKEWVK---PLD---------ESIDAVKNWLIENDI

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


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.

Propeptide 20 – 195 Removed in mature form
Alternative sequence 1 – 243 Missing. In isoform 2.
Helix 93 – 106

Literature citations

Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.
Sleat D.E.; Gin R.M.; Sohar I.; Wisniewski K.; Sklower-Brooks S.; Pullarkat R.K.; Palmer D.N.; Lerner T.J.; Boustany R.-M.N.; Uldall P.; Siakotos A.N.; Donnelly R.J.; Lobel P.;
Am. J. Hum. Genet. 64:1511-1523(1999)
Cited for: VARIANTS CLN2 ARG-77; ASN-287; LYS-343; ARG-365; TYR-365; ASP-385; GLU-389; HIS-422; HIS-447; GLU-454 AND LEU-475; VARIANT ARG-100;

Expression and analysis of CLN2 variants in CHO cells: Q100R represents a polymorphism, and G389E and R447H represent loss-of-function mutations.
Lin L.; Lobel P.;
Hum. Mutat. 18:165-165(2001)

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.