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UniProtKB/Swiss-Prot P01042: Variant p.Leu212Pro

Kininogen-1
Gene: KNG1
Variant information

Variant position:  212
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Leucine (L) to Proline (P) at position 212 (L212P, p.Leu212Pro).
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:  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:  -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

Polymorphism:  The T-kinin peptide is missing residues 378 to 380, probably as a result of a naturally occurring variant. The complete sequence of the T-kinin peptide is therefore ISRPPGFSPFR. This peptide is associated with malignant tumors but not with benign ones.
Additional information on the polymorphism described.

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



Sequence information

Variant position:  212
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  644
The length of the canonical sequence.

Location on the sequence:   GLNFRITYSIVQTNCSKENF  L FLTPDCKSLWNGDTGECTDN
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         GLNFRITYSIVQTNCSKENFLFLTPDCKSLWNGDTGECTDN

Mouse                         GLNFDITYTIVQTNCSKERFPSLHGDCVALPNGDDGECRGN

Rat                           GMNYQIIYSIVQTNCSKEDFPSLHEDCVPLPSGDDGECKGN

Bovine                        GWNYEVNYSIAQTNCSKEEFSFLTPDCKSLSSGDTGECTDK

Sequence annotation in neighborhood:  
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 19 – 644 Kininogen-1
Chain 19 – 380 Kininogen-1 heavy chain
Domain 151 – 254 Cystatin kininogen-type 2
Glycosylation 205 – 205 N-linked (GlcNAc...) (complex) asparagine
Disulfide bond 28 – 614 Interchain (between heavy and light chains)
Disulfide bond 206 – 218
Alternative sequence 189 – 224 Missing. In isoform 3.


Literature citations

Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS SER-163; THR-178 AND PRO-212;

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.