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UniProtKB/Swiss-Prot P25445: Variant p.Asn118Ser

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

Variant position:  118
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Asparagine (N) to Serine (S) at position 118 (N118S, p.Asn118Ser).
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 small size and polar (S)
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.



Sequence information

Variant position:  118
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:   SSKCRRCRLCDEGHGLEVEI  N CTRTQNTKCRCKPNFFCNST
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                         SSKCRRCRLCDEGHGLEVEINCTRTQNTKCRCKPNFFCNST

Rhesus macaque                SSKCRRCRLCDEGHGLEVEINCTRTQNTKCRCKPNFFCNSA

Mouse                         ADKCRRCTLCDEEHGLEVETNCTLTQNTKCKCKPDFYCDSP

Rat                           SDKCRRCAFCDEGHGLEVETNCTRTQNTKCRCKENFYCNAS

Pig                           SSKCRRCRVCDGEHGLEVEKNCTRTQNTKCRCKPNFFCHTS

Bovine                        SDKCIRCSICDEEHGLEVEQNCTRTRNTKCRCKSNFFCNSS

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 26 – 335 Tumor necrosis factor receptor superfamily member 6
Topological domain 26 – 173 Extracellular
Repeat 84 – 127 TNFR-Cys 2
Glycosylation 118 – 118 N-linked (GlcNAc...) asparagine
Glycosylation 136 – 136 N-linked (GlcNAc...) asparagine
Disulfide bond 104 – 119
Disulfide bond 107 – 127
Alternative sequence 87 – 335 Missing. In isoform 3.
Alternative sequence 104 – 335 Missing. In isoform 2.
Alternative sequence 112 – 149 GLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDPCTKC -> DVNMESSRNAHSPATPSAKRKDPDLTWGGFVFFFCQFH. In isoform 4.
Alternative sequence 112 – 132 GLEVEINCTRTQNTKCRCKPN -> DVNMESSRNAHSPATPSAKRK. In isoform 5.


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.