SNTB1

Chr 8

syntrophin beta 1

Also known as: 59-DAP, A1B, BSYN2, DAPA1B, SNT2, SNT2B1, TIP-43

Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
P/LP submissions
P/LP missense
0.69
LOEUF
Mechanism
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?
0.69LOEUF
pLI 0.001
Z-score 2.68
OE 0.39 (0.240.69)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.92Z-score
OE missense 1.15 (1.051.26)
345 obs / 300.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.39 (0.240.69)
00.351.4
Missense OE?1.15 (1.051.26)
00.61.4
Synonymous OE?0.81
01.21.6
LoF obs/exp: 9 / 22.8Missense obs/exp: 345 / 300.2Syn Z: 1.72

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SNTB1 · 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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