Q99N48 · SYTL3_MOUSE
- ProteinSynaptotagmin-like protein 3
- GeneSytl3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids607 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3552695695 | 81 | Q>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_000083.7:g.6943742A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.6943742A>C Locations: - p.Gln81Pro (Ensembl:ENSMUST00000097430) - c.242A>C (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3552695550 | 134 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000083.7:g.6967057C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.6967057C>G Locations: - p.Arg134Gly (Ensembl:ENSMUST00000097430) - c.400C>G (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3552641910 | 134 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000083.7:g.6967058G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.6967058G>T Locations: - p.Arg134Leu (Ensembl:ENSMUST00000097430) - c.401G>T (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3552695285 | 139 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000083.7:g.6967072G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.6967072G>A Locations: - p.Ala139Thr (Ensembl:ENSMUST00000097430) - c.415G>A (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3552741037 | 146 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000083.7:g.6967094A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.6967094A>G Locations: - p.Gln146Arg (Ensembl:ENSMUST00000097430) - c.437A>G (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3552628841 | 149 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000083.7:g.6967102A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.6967102A>C Locations: - p.Ser149Arg (Ensembl:ENSMUST00000097430) - c.445A>C (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3389409758 | 179 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.6970300A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.6970300A>G Locations: - p.Arg179Gly (Ensembl:ENSMUST00000097430) - c.535A>G (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3552641547 | 224 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_000083.7:g.6973370A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.6973370A>G Locations: - p.Thr224Ala (Ensembl:ENSMUST00000097430) - c.670A>G (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3552582261 | 227 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.6973379C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.6973379C>T Locations: - p.Arg227Trp (Ensembl:ENSMUST00000097430) - c.679C>T (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3552887250 | 228 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.6973383G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.6973383G>T Locations: - p.Ser228Ile (Ensembl:ENSMUST00000097430) - c.683G>T (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs261535413 | 236 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000083.7:g.6973406G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.6973406G>A Locations: - p.Val236Met (Ensembl:ENSMUST00000097430) - c.706G>A (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs587064747 | 260 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000083.7:g.6976557A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.6976557A>G Locations: - p.Asp260Gly (Ensembl:ENSMUST00000097430) - c.779A>G (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3552695767 | 272 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000083.7:g.6976593C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.6976593C>T Locations: - p.Pro272Leu (Ensembl:ENSMUST00000097430) - c.815C>T (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3552526985 | 275 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000083.7:g.6976602G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.6976602G>A Locations: - p.Ser275Asn (Ensembl:ENSMUST00000097430) - c.824G>A (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3389421856 | 295 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.6982814C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.6982814C>T Locations: - p.Thr295Ile (Ensembl:ENSMUST00000097430) - c.884C>T (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3389441370 | 327 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000083.7:g.6982909A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.6982909A>G Locations: - p.Lys327Glu (Ensembl:ENSMUST00000097430) - c.979A>G (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3389391818 | 328 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.6982913C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.6982913C>T Locations: - p.Thr328Ile (Ensembl:ENSMUST00000097430) - c.983C>T (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3389437171 | 331 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000083.7:g.6982921A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.6982921A>G Locations: - p.Asn331Asp (Ensembl:ENSMUST00000097430) - c.991A>G (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3389391851 | 376 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000083.7:g.6995733C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.6995733C>T Locations: - p.Thr376Ile (Ensembl:ENSMUST00000097430) - c.1127C>T (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3407207240 | 379 | Y>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.7000351T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.7000351T>C Locations: - p.Tyr379His (Ensembl:ENSMUST00000097430) - c.1135T>C (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3412953314 | 385 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000083.7:g.7000371G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.7000371G>C Locations: - p.Gln385His (Ensembl:ENSMUST00000097430) - c.1155G>C (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3389421847 | 397 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.7000406A>T Codon: CAC/CTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.7000406A>T Locations: - p.His397Leu (Ensembl:ENSMUST00000097430) - c.1190A>T (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3389421842 | 405 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000083.7:g.7000429G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.7000429G>C Locations: - p.Val405Leu (Ensembl:ENSMUST00000097430) - c.1213G>C (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3389345523 | 410 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.7000444G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.7000444G>A Locations: - p.Val410Met (Ensembl:ENSMUST00000097430) - c.1228G>A (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs33696760 | 416 | M>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.92) Somatic: No Accession: NC_000083.7:g.7000463T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.7000463T>C Locations: - p.Met416Thr (Ensembl:ENSMUST00000097430) - c.1247T>C (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3389432162 | 417 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.7000467G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.7000467G>A Locations: - p.Trp417Ter (Ensembl:ENSMUST00000097430) - c.1251G>A (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs252514114 | 420 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.7000474A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.7000474A>G Locations: - p.Lys420Glu (Ensembl:ENSMUST00000097430) - c.1258A>G (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs215913955 | 424 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.7000486G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.7000486G>A Locations: - p.Ala424Thr (Ensembl:ENSMUST00000097430) - c.1270G>A (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3389421800 | 425 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000083.7:g.7000491G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.7000491G>C Locations: - p.Gln425His (Ensembl:ENSMUST00000097430) - c.1275G>C (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3389428803 | 431 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000083.7:g.7000508C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.7000508C>T Locations: - p.Pro431Leu (Ensembl:ENSMUST00000097430) - c.1292C>T (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs249021635 | 468 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000083.7:g.7001962C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.7001962C>T Locations: - p.Ala468Val (Ensembl:ENSMUST00000097430) - c.1403C>T (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3389400456 | 474 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.53) Somatic: No Accession: NC_000083.7:g.7002786C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.7002786C>T Locations: - p.Ala474Val (Ensembl:ENSMUST00000097430) - c.1421C>T (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3389409777 | 479 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.7002801T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.7002801T>A Locations: - p.Leu479Gln (Ensembl:ENSMUST00000097430) - c.1436T>A (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3389441405 | 483 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.7002812G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.7002812G>A Locations: - p.Val483Met (Ensembl:ENSMUST00000097430) - c.1447G>A (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3389437191 | 517 | S>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.7003851C>A Codon: TCC/TAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.7003851C>A Locations: - p.Ser517Tyr (Ensembl:ENSMUST00000097430) - c.1550C>A (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3389345462 | 561 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000083.7:g.7003984C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.7003984C>G Locations: - p.Asp561Glu (Ensembl:ENSMUST00000097430) - c.1683C>G (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs1134088643 | 561 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.7003982G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.7003982G>A Locations: - p.Asp561Asn (Ensembl:ENSMUST00000097430) - c.1681G>A (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3407309834 | 562 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000083.7:g.7003986G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.7003986G>A Locations: - p.Arg562His (Ensembl:ENSMUST00000097430) - c.1685G>A (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: | |||||||
rs3389425039 | 578 | C>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: NC_000083.7:g.7005143T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.7005143T>C Locations: - p.Cys578Arg (Ensembl:ENSMUST00000097430) - c.1732T>C (Ensembl:ENSMUST00000097430) Source type: large scale study Cross-references: |