Gene Variant Detail

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Gene B2M
Variant C45W
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions B2M C45W lies within the Ig-like C1-type domain of the B2m protein (UniProt.org). C45W results in the loss of the disulfide bond between C45 and C100 (PMID: 16648140), increased degradation of B2m, down regulation of HLA class I molecules, and defects in antigen presentation in cultured cells (PMID: 16648140), and therefore, is predicted to result in a loss of B2m protein function.
Associated Drug Resistance
Category Variants Paths

B2M mutant B2M inact mut B2M C45W

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Transcript NM_004048.4
gDNA chr15:g.44715490C>G
cDNA c.135C>G
Protein p.C45W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004048 chr15:g.44715490C>G c.135C>G p.C45W RefSeq GRCh38/hg38
XM_005254549.3 chr15:g.44715490C>G c.135C>G p.C45W RefSeq GRCh38/hg38
XM_005254549 chr15:g.44715490C>G c.135C>G p.C45W RefSeq GRCh38/hg38
XM_005254549.4 chr15:g.44715490C>G c.135C>G p.C45W RefSeq GRCh38/hg38
NM_004048.4 chr15:g.44715490C>G c.135C>G p.C45W RefSeq GRCh38/hg38
NM_004048.2 chr15:g.44715490C>G c.135C>G p.C45W RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Protein Effect Treatment Approaches
B2M C45W loss of function - predicted