SNTB1

Chr 8

syntrophin beta 1

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

NCBI Gene: 6641 ENSG00000172164 UniProt: Q13884 OMIM: 600026

The encoded protein is an adapter protein that binds to and organizes the subcellular localization of membrane proteins, linking various receptors to the actin cytoskeleton and dystrophin glycoprotein complex. Mutations cause autosomal recessive myasthenia gravis with episodic apnea. This gene is highly constrained against loss-of-function variants, suggesting complete loss of protein function has severe consequences.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

LOEUF 0.69

Clinical Summary— SNTB1

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

99 VUS of 109 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.69LOEUF

pLI 0.001

Z-score 2.68

OE 0.39 (0.24–0.69)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

-0.92Z-score

OE missense 1.15 (1.05–1.26)

345 obs / 300.2 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.39 (0.24–0.69)

0≤0.351.4

Missense OE?1.15 (1.05–1.26)

0≤0.61.4

Synonymous OE?0.81

0≤1.21.6

LoF obs/exp: 9 / 22.8Missense obs/exp: 345 / 300.2Syn Z: 1.72

ClinVar Variant Classifications

109 submitted variants in ClinVar

ClinVar

Classification Summary

VUS99

VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	99	99
Likely Benign	0	0
Benign	0	0
Total	99	99

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

53 pathogenic / likely-pathogenic (of 56) ClinVar copy-number / structural variants overlap SNTB1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →