Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q15477: Variant p.Met214Leu

Superkiller complex protein 2
Gene: SKIC2
Feedback?
Variant information Variant position: help 214 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 Methionine (M) to Leucine (L) at position 214 (M214L, p.Met214Leu). 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 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

Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 214 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1246 The length of the canonical sequence.
Location on the sequence: help MDFAPKDCPTPAPGLLSLSC M LEPLDLGGGDEDENEAVGQP 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                         MDFAPKDCPTPAPGLLSLSCML-------EPLDLG------GGDEDENEAVGQP

Mouse                         VDFAPKDHPAPVPGLLSLSRLL-------EPLDLS------

Baker's yeast                 IK--PMDSPAENEDQNGQFKELKQLNEIDNELDIRIEANEA

Fission yeast                 L---SMTATSTTDNLNDEFDP--------EKWDTK------

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 – 1246 Superkiller complex protein 2



Literature citations
Human helicase gene SKI2W in the HLA class III region exhibits striking structural similarities to the yeast antiviral gene SKI2 and to the human gene KIAA0052: emergence of a new gene family.
Dangel A.W.; Shen L.; Mendoza A.R.; Wu L.-C.; Yu C.Y.;
Nucleic Acids Res. 23:2120-2126(1995)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; VARIANTS ARG-151 AND LEU-214; CATALYTIC ACTIVITY; Localization of eight additional genes in the human major histocompatibility complex, including the gene encoding the casein kinase II beta subunit (CSNK2B).
Albertella M.R.; Jones H.; Thomson W.; Olavesen M.G.; Campbell R.D.;
Genomics 36:240-251(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT LEU-214; Sequence determination of 300 kilobases of the human class III MHC locus.
Rowen L.; Dankers C.; Baskin D.; Faust J.; Loretz C.; Ahearn M.E.; Banta A.; Swartzell S.; Smith T.M.; Spies T.; Hood L.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ARG-151; LEU-214; MET-917 AND VAL-1071;
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.