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UniProtKB/Swiss-Prot P50897: Variant p.Val181Leu

Palmitoyl-protein thioesterase 1
Gene: PPT1
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Variant information Variant position: help 181
Type of variant: help LP/P [Disclaimer]
Residue change: help From Valine (V) to Leucine (L) at position 181 (V181L, p.Val181Leu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Variant description: help In CLN1.
Other resources: help


Sequence information Variant position: help 181
Protein sequence length: help 306
Location on the sequence: help DFIRKTLNAGAYSKVVQERL V QAEYWHDPIKEDVYRNHSIF
Residue conservation: help 
Human                         DFIRKTLNAGAYSKVVQ-----ERLVQAEY-------WHDPIKEDVY------------RNHSIF---

Mouse                         DFIRKSLNAGAYSKLVQ-----ERLVQAQY-------WHDP

Rat                           DFIRKSLNAGAYSKVVQ-----ERLVQAQY-------WHDP

Bovine                        DFIRKTLNAGAYNKAIQ-----ERLVQAEY-------WHDP

Caenorhabditis elegans        NGVRRLIDLGAYLPFVQ-----KRVVQAQY-------WHDP

Drosophila                    DYITRLLDNAAYAPEVQ-----KALVQATY-------WHDP

Baker's yeast                 LFNGDFVDRGSWSCEVALLFYCLKILHPNNFFLNRGNHESD

Fission yeast                 LFNGDFVDRGSWSTEVAFTLYAYKLLYPDAVFINRGNHETD
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 28 – 306 Palmitoyl-protein thioesterase 1
Glycosylation 197 – 197 N-linked (GlcNAc...) asparagine
Helix 181 – 185



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.