UniProtKB/Swiss-Prot P25445: Variant p.Lys299Asn

Tumor necrosis factor receptor superfamily member 6
Gene: FAS
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Variant information Variant position:

299 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Lysine (K) to Asparagine (N) at position 299 (K299N, p.Lys299Asn). 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 large size and basic (K) to medium size and polar (N) 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
Variant description:

In non-Hodgkin lymphoma; somatic mutation. Any additional useful information about the variant.

Sequence information Variant position:

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

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

RNWHQLHGKKEAYDTLIKDL K KANLCTLAEKIQTIILKDIT 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                         RNWHQLHGKKEAYDTLIKDLKKANLCTLAEKIQTIILKDIT

Rhesus macaque                RNWYQLHGKKDACDTLIKGLKTADLCTLAEKIHAVILKDIT

Mouse                         LCWYQSHGKSDAYQDLIKGLKKAECRRTLDKFQDMVQKDLG

Rat                           QCWYQSHGKTGACQALIQGLRKANRCDIAEEIQAMVWEDHE

Pig                           RNWYLYHGKKDAYCTLIQGLRKAKLSALADKINDIVQKDVT

Bovine                        RNWYQSHGKKNAYCTLTKSLPKA----LAEKICDIVMKDIT

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	26 – 335	Tumor necrosis factor receptor superfamily member 6
Topological domain	191 – 335	Cytoplasmic
Domain	230 – 314	Death
Region	212 – 317	Interaction with HIPK3
Alternative sequence	87 – 335	Missing. In isoform 3.
Alternative sequence	104 – 335	Missing. In isoform 2.
Alternative sequence	133 – 335	Missing. In isoform 5.
Alternative sequence	150 – 335	Missing. In isoform 4.
Alternative sequence	221 – 335	Missing. In isoform 7.
Mutagenesis	283 – 283	Q -> K. Loss of interaction with FADD.
Mutagenesis	287 – 287	K -> D. Strongly decreased interaction with FADD.
Mutagenesis	291 – 291	Y -> D. Decreased interaction with FADD.
Mutagenesis	313 – 313	I -> D. Constitutive activation. Promotes apoptosis, both in the presence and in the absence of stimulation by a ligand.
Helix	287 – 319

Literature citations
Somatic Fas mutations in non-Hodgkin's lymphoma: association with extranodal disease and autoimmunity.
Groenbaek K.; Straten P.T.; Ralfkiaer E.; Ahrenkiel V.; Andersen M.K.; Hansen N.E.; Zeuthen J.; Hou-Jensen K.; Guldberg P.;
Blood 92:3018-3024(1998)
Cited for: VARIANTS NON-HODGKIN LYMPHOMA THR-25; PHE-180; LEU-183; ILE-198; VAL-260; LYS-264; LYS-272; PHE-278 AND ASN-299;

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.