SDSL
protein-codingserine dehydratase like
Gene summary
Enables L-serine ammonia-lyase activity; identical protein binding activity; and threonine deaminase activity. Predicted to be involved in L-serine catabolic process and L-threonine catabolic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~15.9 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to SDSL variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001304993.2. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | 2 | |||
| missense | 59 | 1 | 60 | |||
| nonsense | 2 | 2 | ||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 2 | 2 | ||||
| Total | 0 | 0 | 64 | 3 | 0 | 67 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001291922.1 | 7 | MANE Select | |
| Ensembl | ENSP00000385790.4 | 7 | MANE Select | |
| RefSeq | NP_612441.1 | 7 | Standard | |
| Ensembl | ENSP00000341117.4 | 7 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Cysteine and methionine metabolism - Homo sapiens (human)
- Glycine, serine and threonine metabolism - Homo sapiens (human)
- Valine, leucine and isoleucine biosynthesis - Homo sapiens (human)
- Pathways in clear cell renal cell carcinoma
- Metabolism of amino acids and derivatives
Biological Process
- L-serine catabolic process
- threonine catabolic process
- biological_process
- L-threonine catabolic process to glycine
Molecular Function
- molecular_function
- L-serine ammonia-lyase activity
- L-threonine ammonia-lyase activity
- hydro-lyase activity
- pyridoxal phosphate binding
Cellular Component
- cytosol
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000403593
- Coding exons
- 7
- Length
- 16040
- Individuals with no LoFs
- 123749
- Homozygous LoFs
- 9
- Heterozygous LoFs
- 1989
- Defined
- 125747
- p
- 0.00798
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.0746 | 194 | 191 | 1.02 | 0.0000105 | 2093 |
| Missense (PolyPhen) | 69 | 63.027 | 1.0948 | 677 | ||
| Synonymous | -0.119 | 87 | 85.6 | 1.02 | 0.00000536 | 714 |
| Loss of Function | -0.767 | 15 | 12.1 | 1.24 | 5.15e-7 | 145 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0047 | 0.0045 | notable |
| Latino/Admixed American | 0.0068 | 0.0067 | notable |
| Ashkenazi Jewish | 0.031 | 0.031 | notable |
| East Asian | 0.0051 | 0.0051 | notable |
| Finnish | 0.0021 | 0.0020 | notable |
| European (Non-Finnish) | 0.0099 | 0.0098 | notable |
| South Asian | 0.0023 | 0.0023 | notable |
| Other | 0.012 | 0.012 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Has low serine dehydratase and threonine dehydratase activity.;
Recessive Scores
- pRec
- 0.128
Intolerance Scores
- LoFtool
- 0.256
- RVIS EVS
- 0.62
- RVIS percentile EVS
- 83.42
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.682
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |