Variant information:

(Click the titles to show more information.)

Variant position: 301

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

Type of variant: Polymorphism

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

• Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
• Polymorphism: No disease-association has been reported.
• Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change: From Proline (P) to Arginine (R) at position 301 (P301R, p.Pro301Arg).

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 hydrophobic (P) to large size and basic (R)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score: -2

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.

• SeattleSNPs
• NIEHS-SNPs
• Enbrel; Clinical information on Enbrel
• Variant rs17883432 [ dbSNP | Ensembl ]

Sequence information:

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Variant position: 301

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

Protein sequence length: 461

The length of the canonical sequence.

Location on the sequence:  CVIMTQVKKKPLCLQREAKV  P HLPADKARGTQGPEQQHLLI

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                         CVIMTQVKKKPLCLQREAKVPHLPADKARGTQGPEQQHLLI

Mouse                         CIILVQRKKKPSCLQRDAKVPHVPDEKSQDAVGLEQQHLLT

Rat                           CFILVQRKKKPSCLQRETMVPHLPDDKSQDAIGLEQQHLLT

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	23 – 461	Tumor necrosis factor receptor superfamily member 1b, membrane form
Topological domain	288 – 461	Cytoplasmic
Alternative sequence	269 – 461	Missing. In isoform 2.

Literature citations

Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ARG-196; LYS-232; PRO-269 AND ARG-301;