Information on MYD88
Basic details
Alt. symbols: MYD88D
Approved name: MYD88 innate immune signal transduction adaptor
Alt. names: myeloid differentiation primary response gene (88), myeloid differentiation primary response 88
Location: 3p22.2: 38138552 - 38143024 (+)
Gene type: protein_coding, 15 transcripts.
Scores: LoFtool: 0.267000 | pLI: 0.71185461 | LOEUF: 0.655
Normal function
Dysfunction and disease
Pyogenic bacterial infections, recurrent, due to MYD88 deficiency [MIM:612260] | Macroglobulinemia, Waldenstrom, somatic [MIM:153600] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD68 |
Immunodeficiency 68 | AR |
612260 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of MYD88
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 211 | ENST00000651800.2 | protein_coding | No | 2483 | NM_001172569 | ||||
| 209 | ENST00000650112.2 | protein_coding | No | 2352 | NM_001172566 | ||||
| 204 | ENST00000421516.3 | protein_coding | No | 2691 | NM_001172567 | ||||
| 212 | ENST00000652213.1 | protein_coding | No | 2655 | NM_001365876,NM_001374787 | ||||
| 210 | ENST00000650905.2 | Select | protein_coding | Yes | 2667 | NM_002468 | |||
| 203 | ENST00000417037.8 | protein_coding | No | 2638 | NM_001172568 | ||||
| 215 | ENST00000699086.1 | protein_coding | No | NM_001365877 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in MYD88
| ID | Year | Title | Journal | PMID | Variants |
|---|