Q10480 · PNU1_SCHPO
- ProteinNuclease 1, mitochondrial
- Genepnu1
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids322 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
I_4485497_C_T | 128 | A>T | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.4485497C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: Genomic location: I:g.4485497C>T Locations: - p.Ala128Thr (Ensembl:SPAC17C9.08.1) - c.382G>A (Ensembl:SPAC17C9.08.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_4485497_C_T | |||||||
I_4485476_C_T | 135 | G>R | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.4485476C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: Genomic location: I:g.4485476C>T Locations: - p.Gly135Arg (Ensembl:SPAC17C9.08.1) - c.403G>A (Ensembl:SPAC17C9.08.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_4485476_C_T | |||||||
I_4485161_C_G | 215 | V>L | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.4485161C>G Codon: GTT/CTT Consequence type: missense Cytogenetic band: Genomic location: I:g.4485161C>G Locations: - p.Val215Leu (Ensembl:SPAC17C9.08.1) - c.643G>C (Ensembl:SPAC17C9.08.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_4485161_C_G | |||||||
I_4485003_C_A | 267 | K>N | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.4485003C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: Genomic location: I:g.4485003C>A Locations: - p.Lys267Asn (Ensembl:SPAC17C9.08.1) - c.801G>T (Ensembl:SPAC17C9.08.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_4485003_C_A |