Information on LAT
Basic details
Alt. symbols: LAT1
Approved name: linker for activation of T cells
Alt. names: linker for activation of T cells, transmembrane adaptor
Location: 16p11.2: 28984826 - 28990784 (+)
Gene type: protein_coding, 16 transcripts.
Scores: LoFtool: 0.095600 | pLI: 0.09743329 | LOEUF: 0.660
Normal function
Dysfunction and disease
Immunodeficiency 52 [MIM:617514] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
SCID8 |
Immunodeficiency 52 | AR |
617514 |
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 LAT
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000360872.9 | CCDS10647 | protein_coding | 11 | No | 1459 | NM_014387 | ||
| 204 | ENST00000395461.7 | CCDS53999 | protein_coding | 13 | No | 1448 | NM_001014989 | ||
| 203 | ENST00000395456.7 | CCDS32425 | Select | protein_coding | 12 | Yes | 1671 | NM_001014987 | |
| 205 | ENST00000454369.6 | CCDS45455 | protein_coding | 12 | No | 1262 | NM_001014988 |
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 LAT
| ID | Year | Title | Journal | PMID | Variants |
|---|