UniProtKB/Swiss-Prot Q14790: Variant p.Ser219Thr

Caspase-8
Gene: CASP8
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Variant information Variant position:

219 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 Threonine (T) at position 219 (S219T, p.Ser219Thr). 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 medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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:

Genetic variations in CASP8 are associated with reduced risk of lung cancer [MIM:211980] in a population of Han Chinese subjects. Genetic variations are also associated with decreased risk of cancer of various other forms including esophageal, gastric, colorectal, cervical, and breast, acting in an allele dose-dependent manner. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs35976359 [ dbSNP | Ensembl ]

Sequence information Variant position:

219 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

479 The length of the canonical sequence.
Location on the sequence:

GEELCGVMTISDSPREQDSE S QTLDKVYQMKSKPRGYCLII 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                         GEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLII

Mouse                         DEMSLKMAELCDSPREQDSESRTSDKVYQMKNKPRGYCLII

Rat                           DEVTIKMQDMWDSPGEQESESLNSDNVYQMKSKPRGYCLIF

Drosophila                    GTAAMAVKQEIESDNQQSYCSTQIDAL-KLTRENAGIALII

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	217 – 374	Caspase-8 subunit p18
Modified residue	211 – 211	Phosphoserine
Modified residue	224 – 224	N6-acetyllysine
Alternative sequence	184 – 267	Missing. In isoform 3.
Alternative sequence	184 – 220	ERSSSLEGSPDEFSNGEELCGVMTISDSPREQDSESQ -> DFGQSLPNEKQTSGILSDHQQSQFCKSTGESAQTSQH. In isoform 6.
Alternative sequence	199 – 235	GEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGY -> DFGQSLPNEKQTSGILSDHQQSQFCKSTGESAQTSQH. In isoform 5.

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-219 AND HIS-285;

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.