UniProtKB/Swiss-Prot O14763: Variant p.Ala67Val

Tumor necrosis factor receptor superfamily member 10B
Gene: TNFRSF10B
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Variant information Variant position:

67 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 Alanine (A) to Valine (V) at position 67 (A67V, p.Ala67Val). 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 hydrophobic (A) to medium size and hydrophobic (V) 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
Other resources:

Links to websites of interest for the variant.

Variant rs1047266 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LLVSAESALITQQDLAPQQR A APQQKRSSPSEGLCPPGHHI 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                         LLVSAESALITQQDLAPQQRAAPQQKRSSPSEGLCPPGHHI

Mouse                         LAVLQAVFVPVTANPAHNRPAGLQRPEESPSRGPCLAGQYL

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	56 – 440	Tumor necrosis factor receptor superfamily member 10B
Topological domain	56 – 210	Extracellular
Repeat	57 – 94	TNFR-Cys 1
Region	60 – 84	Disordered
Compositional bias	60 – 77	Polar residues

Literature citations
TRICK2, a new alternatively spliced receptor that transduces the cytotoxic signal from TRAIL.
Screaton G.R.; Mongkolsapaya J.; Xu X.-N.; Cowper A.E.; McMichael A.J.; Bell J.I.;
Curr. Biol. 7:693-696(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT); ALTERNATIVE SPLICING; VARIANTS LEU-32; VAL-67 AND ALA-191; Characterization of two receptors for TRAIL.
Schneider P.; Bodmer J.-L.; Thome M.; Hofmann K.; Holler N.; Tschopp J.;
FEBS Lett. 416:329-334(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG); CHARACTERIZATION; VARIANTS LEU-32; VAL-67 AND ALA-191; Death receptor 5, a new member of the TNFR family, and DR4 induce FADD-dependent apoptosis and activate the NF-kappaB pathway.
Chaudhary P.M.; Eby M.; Jasmin A.; Bookwalter A.; Murray J.; Hood L.;
Immunity 7:821-830(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT); VARIANTS LEU-32 AND VAL-67; Identification and molecular cloning of two novel receptors for the cytotoxic ligand TRAIL.
MacFarlane M.; Ahmad M.; Srinivasula S.M.; Fernandes-Alnemri T.; Cohen G.M.; Alnemri E.S.;
J. Biol. Chem. 272:25417-25420(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT); VARIANTS LEU-32 AND VAL-67; Genomic organization and mutation analyses of the DR5/TRAIL receptor 2 gene in colorectal carcinomas.
Arai T.; Akiyama Y.; Okabe S.; Saito K.; Iwai T.; Yuasa Y.;
Cancer Lett. 133:197-204(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; ALTERNATIVE SPLICING; VARIANTS LEU-32; VAL-67 AND ALA-191; Homo sapiens homolog of tumor necrosis factor receptor.
Farrah T.; Vu T.; Gilbert T.; Gross J.; O'Hara P.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT); VARIANTS LEU-32 AND VAL-67;

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.