SLC43A1

Chr 11

solute carrier family 43 member 1

Also known as: LAT3, PB39, POV1, R00504

NCBI Gene: 8501 ENSG00000149150 UniProt: O75387

SLC43A1 belongs to the system L family of plasma membrane carrier proteins that transports large neutral amino acids (Babu et al., 2003 [PubMed 12930836]).[supplied by OMIM, Mar 2008]

Research

SLC43A1 belongs to the system L family of plasma membrane carrier proteins that transports large neutral amino acids (Babu et al., 2003 [PubMed 12930836]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.75

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.75LOEUF

pLI 0.000

Z-score 2.56

OE 0.47 (0.31–0.75)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.09Z-score

OE missense 0.83 (0.75–0.92)

277 obs / 332.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.47 (0.31–0.75)

0≤0.351.4

Missense OE?0.83 (0.75–0.92)

0≤0.61.4

Synonymous OE?0.93

0≤1.21.6

LoF obs/exp: 13 / 27.5Missense obs/exp: 277 / 332.9Syn Z: 0.69

Background carrier burden — how many people carry a rare variant somewhere in SLC43A1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 70

677 rare PASS variants

Rare truncating (LoF)

1 in 1,400

121 rare PASS variants

Rare synonymous (reference)

1 in 150

241 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SLC43A1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 110	1 in 1,500
South Asian	~43k	1 in 100	1 in 630
Remaining (unassigned)	~30k	1 in 65	1 in 1,100
European (Finnish)	~27k	1 in 200	1 in 5,300
Admixed American	~22k	1 in 62	1 in 1,700
African / African American	~21k	1 in 96	≈ 1 in 4,900
East Asian	~20k	1 in 130	1 in 650
Ashkenazi Jewish	~13k	1 in 250	none seen
Middle Eastern	~2,884	1 in 80	1 in 410

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 14 coding exons well covered in gnomAD exomes and genomes.? see exons ↓