UniProtKB/Swiss-Prot O14773: Variant p.Arg175His

Tripeptidyl-peptidase 1
Gene: TPP1
Feedback?

Variant information Variant position:

175 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 Arginine (R) to Histidine (H) at position 175 (R175H, p.Arg175His). 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 (R) to medium size and polar (H) 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
Other resources:

Links to websites of interest for the variant.

Variant rs764922748 [ dbSNP | Ensembl ]

Sequence information Variant position:

175 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:

HPYQLPQALAPHVDFVGGLH R FPPTSSLRQRPEPQVTGTVG 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                         HPYQLPQALAPHVD--FVGGLHRFPPTSSLRQRP-EPQVTG-------TVG

                              RPYQLPKALAPHVD--FVGGLHRFPPTSSLRQRP-EPQVSG

Chimpanzee                    HPYQLPQALAPHVD--FVGGLHRFPPTSSLRQRP-EPQVTG

Mouse                         HPYQLPQALAPHVD--FVGGLHRFPPSS-PRQRP-EPQQVG

Rat                           HPYQLPQALAPHVD--LVAGLHRFPPLSSPRQRP-EPQGVG

Bovine                        HPYRLPKALAPHVD--FVGGLHRFPPTSTLRQHP-EPQVPG

Zebrafish                     SQYSVHEDVHQHLD--FVGGVHRFPQKRKIVSKGWEGARQA

Slime mold                    DPYTIPRELYDHID--FIGGVNHLPLLS-PRPKESSGSAGG

Baker's yeast                 -----PTAVIVIFS--NQGGVITVPRTS-------------

Fission yeast                 SLFLVPQLIRNKIDDAVIGFYHHHPFPSSEIARC-FPRRRA

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.

Type	Positions	Description
Propeptide	20 – 195	Removed in mature form
Alternative sequence	1 – 243	Missing. In isoform 2.

Literature citations
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.
Sleat D.E.; Donnelly R.J.; Lackland H.; Liu C.-G.; Sohar I.; Pullarkat R.K.; Lobel P.;
Science 277:1802-1805(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); PARTIAL PROTEIN SEQUENCE; VARIANTS CLN2 ARG-365 AND TYR-365; VARIANT HIS-175;

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.