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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P25445: Variant p.Arg121Trp

Tumor necrosis factor receptor superfamily member 6
Gene: FAS
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Variant information Variant position: help 121 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Arginine (R) to Tryptophan (W) at position 121 (R121W, p.Arg121Trp). 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: help Change from large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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: help In ALPS1A. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 121 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 335 The length of the canonical sequence.
Location on the sequence: help CRRCRLCDEGHGLEVEINCT R TQNTKCRCKPNFFCNSTVCE 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         CRRCRLCDEGHGLEVEINCTRTQNTKCRCKPNFFCNSTVCE

Rhesus macaque                CRRCRLCDEGHGLEVEINCTRTQNTKCRCKPNFFCNSAVCE

Mouse                         CRRCTLCDEEHGLEVETNCTLTQNTKCKCKPDFYCDSPGCE

Rat                           CRRCAFCDEGHGLEVETNCTRTQNTKCRCKENFYCNASLCD

Pig                           CRRCRVCDGEHGLEVEKNCTRTQNTKCRCKPNFFCHTSQCE

Bovine                        CIRCSICDEEHGLEVEQNCTRTRNTKCRCKSNFFCNSSPCE
Sequence annotation in neighborhood: help 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 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
Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis.
Bettinardi A.; Brugnoni D.; Quiros-Roldan E.; Malagoli A.; La Grutta S.; Correra A.; Notarangelo L.D.;
Blood 89:902-909(1997)
Cited for: VARIANTS ALPS1A TRP-121 AND CYS-232;
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.