UniProtKB/Swiss-Prot Q6UXS9 : Variant p.Ser238Gly
Inactive caspase-12
Gene: CASP12
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Variant information
Variant position:
238
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 Serine (S) to Glycine (G) at position 238 (S238G, p.Ser238Gly).
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:
Change from small size and polar (S) to glycine (G)
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
0
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 sequence shown in this entry differs from the translation of the reference genome assembly (GRCh38/hg38) due to a nonsense variant creating stop codon at position 125 in the reference genome, giving rise to a truncated protein (Csp12-S) (PubMed:15129283 , PubMed:16917906 ). The sequence shown in this entry is that of variant p.Ter125Arg. This variant gives rise to a full length protein (Csp12-L). It occurs in the human population at a frequence of about 4% according to the Genome Aggregation Database (gnomAD v3.1.2), with highest frequency observed in people of African descent (up to 60% in certain sub-Saharan populations) (PubMed:15129283 , PubMed:16917906 , PubMed:16532395 ). Csp12-L expression may increase the susceptibility to severe sepsis, and may result in higher mortality rates (up to 3-fold) once severe sepsis develop (PubMed:15129283 ).
Additional information on the polymorphism described.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
238
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
341
The length of the canonical sequence.
Location on the sequence:
QACRGNGAGIVWFTTDSGKA
S ADTHGRLLQGNICNDAVTKA
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 QACRGNGAGIVWFTTDSGKAS ADTHGRLLQGNICNDAVTKA
QACRGRGDGAVWV-TDVGEAS AWTCDQPLQCYIFNDAIEKT
Rhesus macaque QACRGSGAGIVWFTTDSGKAS ADTHGQLLQSSICNDAVTKA
Mouse QACRGRYNGTIWVSTNKGIAT ADTDEERVLSCKWNNSITKA
Rat QACRGRHTGTIWVSTSKGIAT ADTDEECVLSHRWNNSITKA
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.
Type Positions Description
Chain
1 – 341
Inactive caspase-12
Active site
220 – 220
Alternative sequence
145 – 341
EMETALRQFAAHPEHQSSDSTFLVFMSHSILNGICGTKHWDQEPDVLHDDTIFEIFNNRNCQSLKDKPKVIIMQACRGNGAGIVWFTTDSGKASADTHGRLLQGNICNDAVTKAHVEKDFIAFKSSTPHNVSWRHETNGSVFISQIIYYFREYSWSHHLEEIFQKVQHSFETPNILTQLPTIERLSMTRYFYLFPGN -> MVLGLFGSPLTVEKPVQILMVGSCKVTSVMMLLQRLMWKRTSLLSNLPHHIMFLGDMKQMALSSFPKLSTTSESILGVII. In isoform 6 and isoform 8.
Alternative sequence
145 – 309
EMETALRQFAAHPEHQSSDSTFLVFMSHSILNGICGTKHWDQEPDVLHDDTIFEIFNNRNCQSLKDKPKVIIMQACRGNGAGIVWFTTDSGKASADTHGRLLQGNICNDAVTKAHVEKDFIAFKSSTPHNVSWRHETNGSVFISQIIYYFREYSWSHHLEEIFQK -> MVLGLFGSPLTVEKPVQILMVGSCKVTSVMMLLQRLMWKRTSLLSNLPHH. In isoform 3 and isoform 7.
Alternative sequence
169 – 341
Missing. In isoform 2.
Alternative sequence
214 – 309
VIIMQACRGNGAGIVWFTTDSGKASADTHGRLLQGNICNDAVTKAHVEKDFIAFKSSTPHNVSWRHETNGSVFISQIIYYFREYSWSHHLEEIFQK -> MVLGLFGSPLTVEKPVQILMVGSCKVTSVMMLLQRLMWKRTSLLSNLPHH. In isoform 5.
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.