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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O14773: Variant p.Arg175His

Tripeptidyl-peptidase 1
Gene: TPP1
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Variant information Variant position: help 175
Type of variant: help LB/B
Residue change: help From Arginine (R) to Histidine (H) at position 175 (R175H, p.Arg175His).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (H)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 175
Protein sequence length: help 563
Location on the sequence: help HPYQLPQALAPHVDFVGGLH R FPPTSSLRQRPEPQVTGTVG
Residue conservation: help 
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: help
TypePositionsDescription
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.