UniProtKB/Swiss-Prot P25445: Variant p.Asn255Asp

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

255 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 Asparagine (N) to Aspartate (D) at position 255 (N255D, p.Asn255Asp). 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 medium size and polar (N) to medium size and acidic (D) 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
Variant description:

In squamous cell carcinoma; burn-scar related; somatic mutation. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs121913082 [ dbSNP | Ensembl ]

Sequence information Variant position:

255 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:

TIAGVMTLSQVKGFVRKNGV N EAKIDEIKNDNVQDTAEQKV 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                         TIAGVMTLSQVKGFVRKNGVNEAKIDEIKNDNVQDTAEQKV

Rhesus macaque                TIAGAMTLSQVKDFVRKNGVSEAKIDEIKNDNVQDTAEQKV

Mouse                         RIAEDMTIQEAKKFARENNIKEGKIDEIMHDSIQDTAEQKV

Rat                           RTAEKMKICDAKKFARQHKIPESKIDEIEHNSPQDAAEQKI

Pig                           RIAEQMKITEVKDFVRKNGIEETKIDEIMHDNPKDTAEQKV

Bovine                        SIAEQMRITEVKEFVRKNGMEEAKIDDIMHDNVHETAEQKV

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
Glycosylation	250 – 250	(Microbial infection) N-beta-linked (GlcNAc) arginine
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	250 – 250	R -> A. Abolished GlcNAcylation by E.coli NleB1.
Mutagenesis	250 – 250	R -> E. Strongly decreased interaction with FADD.
Mutagenesis	261 – 261	E -> K. Loss of interaction with FADD.

Literature citations
Somatic mutations of Fas (Apo-1/CD95) gene in cutaneous squamous cell carcinoma arising from a burn scar.
Lee S.H.; Shin M.S.; Kim H.S.; Park W.S.; Kim S.Y.; Jang J.J.; Rhim K.J.; Jang J.; Lee H.K.; Park J.Y.; Oh R.R.; Han S.Y.; Lee J.H.; Lee J.Y.; Yoo N.J.;
J. Invest. Dermatol. 114:122-126(2000)
Cited for: VARIANTS SQUAMOUS CELL CARCINOMA SER-118; ARG-178 AND ASP-255;

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.