SRR
protein-codingserine racemase
Gene summary
Enables several functions, including L-serine ammonia-lyase activity; PDZ domain binding activity; and heterocyclic compound binding activity. Involved in oxoacid metabolic process and response to lipopolysaccharide. Located in cytoplasm and neuronal cell body. [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 ~21.9 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 SRR variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_021947.3. 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 | 0 | |||||
| missense | 34 | 1 | 35 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 35 | 1 | 0 | 36 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_068766.1 | 7 | MANE Select | |
| Ensembl | ENSP00000339435.5 | 7 | MANE Select | |
| RefSeq | NP_001291732.1 | 4 | Standard | |
| Ensembl | ENSP00000460581.2 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Glycine, serine and threonine metabolism - Homo sapiens (human)
- 3-Phosphoglycerate dehydrogenase deficiency
- Non Ketotic Hyperglycinemia
- Glycine and Serine Metabolism
- Dimethylglycine Dehydrogenase Deficiency
Biological Process
- L-serine metabolic process
- L-serine biosynthetic process
- brain development
- aging
- serine family amino acid metabolic process
Molecular Function
- magnesium ion binding
- L-serine ammonia-lyase activity
- calcium ion binding
- ATP binding
- D-serine ammonia-lyase activity
Cellular Component
- cytoplasm
- cytosol
- plasma membrane
- neuronal cell body
- apical part of cell
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000344595
- Coding exons
- 7
- Length
- 21878
- Individuals with no LoFs
- 125704
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 44
- Defined
- 125748
- p
- 0.000175
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.881 | 148 | 181 | 0.816 | 0.00000849 | 2206 |
| Missense (PolyPhen) | 53 | 56.7 | 0.93474 | 718 | ||
| Synonymous | 0.0312 | 64 | 64.3 | 0.995 | 0.00000311 | 705 |
| Loss of Function | 2.03 | 6 | 14.3 | 0.419 | 6.70e-7 | 177 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00012 | 0.00012 | rare |
| Latino/Admixed American | 0.00041 | 0.00040 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00022 | 0.00022 | rare |
| Finnish | 0.00018 | 0.00018 | rare |
| European (Non-Finnish) | 0.000097 | 0.000097 | rare |
| South Asian | 0.00020 | 0.00020 | rare |
| Other | 0.00049 | 0.00049 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Catalyzes the synthesis of D-serine from L-serine. D- serine is a key coagonist with glutamate at NMDA receptors. Has dehydratase activity towards both L-serine and D-serine. {ECO:0000269|PubMed:11054547, ECO:0000269|PubMed:20106978}.;
Recessive Scores
- pRec
- 0.220
Intolerance Scores
- LoFtool
- 0.452
- RVIS EVS
- -0.47
- RVIS percentile EVS
- 23.04
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.683
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |