MAD1L1

Chr 7

mitotic arrest deficient 1 like 1

Also known as: MAD1, MVA7, PIG9, TP53I9, TXBP181

MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition
0
Active trials
35
Pubs (1 yr)
P/LP submissions
P/LP missense
0.97
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.97LOEUF
pLI 0.000
Z-score 1.71
OE 0.71 (0.530.97)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.03Z-score
OE missense 1.00 (0.921.08)
460 obs / 461.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.71 (0.530.97)
00.351.4
Missense OE?1.00 (0.921.08)
00.61.4
Synonymous OE?1.07
01.21.6
LoF obs/exp: 30 / 42.0Missense obs/exp: 460 / 461.5Syn Z: -0.81

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MAD1L1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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