UniProtKB/Swiss-Prot Q02223: Variant p.Asn81Ser

Tumor necrosis factor receptor superfamily member 17
Gene: TNFRSF17
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Variant information Variant position:

81 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 Asparagine (N) to Serine (S) at position 81 (N81S, p.Asn81Ser). 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
Other resources:

Links to websites of interest for the variant.

Variant rs373496 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

GLSLIISLAVFVLMFLLRKI N SEPLKDEFKNTGSGLLGMAN 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                         GLSLIISLAVFVLMFLLRKINSEPLKDEFKN----TGSGLLGMAN

Mouse                         GLTLVLSLALFTISFLLRKMNPEALKDEPQSPGQLDGSAQL

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	1 – 184	Tumor necrosis factor receptor superfamily member 17
Topological domain	78 – 184	Cytoplasmic
Alternative sequence	44 – 93	SVTNSVKGTNAILWTCLGLSLIISLAVFVLMFLLRKINSEPLKDEFKNTG -> R. In isoform 2.

Literature citations
A new gene, BCM, on chromosome 16 is fused to the interleukin 2 gene by a t(4;16)(q26;p13) translocation in a malignant T cell lymphoma.
Laabi Y.; Gras M.P.; Carbonnel F.; Brouet J.C.; Berger R.; Larsen C.-J.; Tsapis A.;
EMBO J. 11:3897-3904(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); CHROMOSOMAL TRANSLOCATION; VARIANT SER-81; The BCMA gene, preferentially expressed during B lymphoid maturation, is bidirectionally transcribed.
Laabi Y.; Gras M.P.; Brouet J.C.; Berger R.; Larsen C.J.; Tsapis A.;
Nucleic Acids Res. 22:1147-1154(1994)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1); VARIANT SER-81; Presence of four major haplotypes in human BCMA gene: lack of association with systemic lupus erythematosus and rheumatoid arthritis.
Kawasaki A.; Tsuchiya N.; Fukazawa T.; Hashimoto H.; Tokunaga K.;
Genes Immun. 2:276-279(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS SER-81 AND THR-153; Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-54; VAL-65; VAL-75; SER-81 AND SER-165; Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.
Loftus B.J.; Kim U.-J.; Sneddon V.P.; Kalush F.; Brandon R.; Fuhrmann J.; Mason T.; Crosby M.L.; Barnstead M.; Cronin L.; Mays A.D.; Cao Y.; Xu R.X.; Kang H.-L.; Mitchell S.; Eichler E.E.; Harris P.C.; Venter J.C.; Adams M.D.;
Genomics 60:295-308(1999)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT SER-81;

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.