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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P50897: Variant p.Leu222Pro

Palmitoyl-protein thioesterase 1
Gene: PPT1
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Variant information Variant position: help 222 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Leucine (L) to Proline (P) at position 222 (L222P, p.Leu222Pro). 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: help Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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: help In CLN1; late infantile form. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 222 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 306 The length of the canonical sequence.
Location on the sequence: help LADINQERGINESYKKNLMA L KKFVMVKFLNDSIVDPVDSE 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LADINQERGINESY--------------KKNLMALKKFVMVK------FLNDSIVDPVDSE

Mouse                         LADINQERCVNESY--------------KKNLMALKKFVMV

Rat                           LADINQERHINESY--------------KENLMALKKFVMV

Bovine                        LADINQERGVNESY--------------KKNLMALKKFVMV

Caenorhabditis elegans        LADINNENNNNPTY--------------KRNLLSLKNLVLV

Drosophila                    LADINNELFINKFY--------------IENLQKLKKFVMV

Baker's yeast                 FESLPLATLINNDYLVMHGGLPSDPSATLSDFKNIDRFAQP

Fission yeast                 FSLLPLGSLISDSYLVVHGGLFSDDNVTLDQLRNIDRFSKK
Sequence annotation in neighborhood: help 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 28 – 306 Palmitoyl-protein thioesterase 1
Active site 233 – 233
Glycosylation 212 – 212 N-linked (GlcNAc...) asparagine
Glycosylation 232 – 232 N-linked (GlcNAc...) asparagine



Literature citations
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Kousi M.; Lehesjoki A.E.; Mole S.E.;
Hum. Mutat. 33:42-63(2012)
Cited for: VARIANTS CLN1 TYR-45; PRO-75; GLY-79; ARG-108; ASP-109; LEU-138; TYR-152; GLU-177; MET-181; ARG-187; ARG-189; GLN-219; PRO-222; GLY-228; HIS-247; VAL-250; ARG-296 AND PRO-305;
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.