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:
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 GLSLIISLAVFVLMFLLRKI NSEPLKDEFKN----TGSGLLGMAN
Mouse GLTLVLSLALFTISFLLRKM NPEALKDEPQSPGQLDGSAQL
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
1 – 184 Tumor necrosis factor receptor superfamily member 17
78 – 184 Cytoplasmic
44 – 93 SVTNSVKGTNAILWTCLGLSLIISLAVFVLMFLLRKINSEPLKDEFKNTG -> R. In isoform 2.
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;
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.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT SER-81;
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.