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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q3KNS1: Variant p.Arg372Lys

Patched domain-containing protein 3
Gene: PTCHD3
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Variant information Variant position: help 372 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Lysine (K) at position 372 (R372K, p.Arg372Lys). 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 large size and basic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 2 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

Polymorphism: help A stop codon in the gene coding for this protein at position Glu-768 is responsible for functional diversity thus producing a pseudogene.The copy number of PTCHD3 varies between individuals with some individuals having no copy of the gene due to a 102,624 base pair deletion spanning the PTCHD3 gene. This deletion does not appear to be associated with an overt phenotype and is found in 0.6-1.6% of individuals of European ancestry. - Additional information on the polymorphism described.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 372 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 954 The length of the canonical sequence.
Location on the sequence: help NIKNILALKKIEVVHFTSLS R QLEFEATSVTVIPVFHLAYI 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                         NIKNILALKKIEVVHFTSLSRQLEFEATSVTVIPVFHLAYI

Mouse                         DMKSSLTLEEIEVVYFSSLSRQLEFEATSKTVIPLFHLAYI

Rat                           DMKSDLALEDIEVVYFTSLSRQLEFEATSKTVIPLFHLAYI

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 1 – 954 Patched domain-containing protein 3



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.