Q925I7 · PDGFD_MOUSE
- ProteinPlatelet-derived growth factor D
- GenePdgfd
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids370 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388971554 | 3 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000075.7:g.6168801C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.6168801C>T Locations: - p.Arg3Trp (Ensembl:ENSMUST00000168039) - c.7C>T (Ensembl:ENSMUST00000168039) Source type: large scale study Cross-references: | |||||||
rs240765212 | 11 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000075.7:g.6168825C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.6168825C>G Locations: - p.Leu11Val (Ensembl:ENSMUST00000168039) - c.31C>G (Ensembl:ENSMUST00000168039) Source type: large scale study Cross-references: | |||||||
rs39107246 | 19 | P>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.72) Somatic: No Accession: NC_000075.7:g.6168850C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.6168850C>A Locations: - p.Pro19Gln (Ensembl:ENSMUST00000168039) - c.56C>A (Ensembl:ENSMUST00000168039) Source type: large scale study Cross-references: | |||||||
rs225238295 | 27 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.86) Somatic: No Accession: NC_000075.7:g.6168875A>C Codon: AGA/AGC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.6168875A>C Locations: - p.Arg27Ser (Ensembl:ENSMUST00000168039) - c.81A>C (Ensembl:ENSMUST00000168039) Source type: large scale study Cross-references: | |||||||
rs3389015812 | 30 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000075.7:g.6168882A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.6168882A>T Locations: - p.Ile30Phe (Ensembl:ENSMUST00000168039) - c.88A>T (Ensembl:ENSMUST00000168039) Source type: large scale study Cross-references: | |||||||
rs3389018307 | 91 | I>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000075.7:g.6288618A>C Codon: ATA/CTA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.6288618A>C Locations: - p.Ile91Leu (Ensembl:ENSMUST00000168039) - c.271A>C (Ensembl:ENSMUST00000168039) Source type: large scale study Cross-references: | |||||||
rs3389018333 | 93 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000075.7:g.6288625T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.6288625T>A Locations: - p.Leu93Gln (Ensembl:ENSMUST00000168039) - c.278T>A (Ensembl:ENSMUST00000168039) Source type: large scale study Cross-references: | |||||||
rs3389025444 | 130 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000075.7:g.6293817G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 9q Genomic location: NC_000075.7:g.6293817G>A Locations: - p.Trp130Ter (Ensembl:ENSMUST00000168039) - c.390G>A (Ensembl:ENSMUST00000168039) Source type: large scale study Cross-references: | |||||||
rs3400034360 | 132 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000075.7:g.6293821G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.6293821G>T Locations: - p.Gly132Cys (Ensembl:ENSMUST00000168039) - c.394G>T (Ensembl:ENSMUST00000168039) Source type: large scale study Cross-references: | |||||||
rs3388990707 | 191 | S>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000075.7:g.6333385C>A Codon: TCT/TAT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.6333385C>A Locations: - p.Ser191Tyr (Ensembl:ENSMUST00000168039) - c.572C>A (Ensembl:ENSMUST00000168039) Source type: large scale study Cross-references: | |||||||
rs3413138351 | 193 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_000075.7:g.6337246G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.6337246G>T Locations: - p.Val193Leu (Ensembl:ENSMUST00000168039) - c.577G>T (Ensembl:ENSMUST00000168039) Source type: large scale study Cross-references: | |||||||
rs241557558 | 214 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000075.7:g.6337309G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.6337309G>A Locations: - p.Val214Ile (Ensembl:ENSMUST00000168039) - c.640G>A (Ensembl:ENSMUST00000168039) Source type: large scale study Cross-references: | |||||||
rs3547138457 | 215 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000075.7:g.6337312G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.6337312G>A Locations: - p.Ala215Thr (Ensembl:ENSMUST00000168039) - c.643G>A (Ensembl:ENSMUST00000168039) Source type: large scale study Cross-references: | |||||||
rs3389023359 | 346 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000075.7:g.6376944A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.6376944A>T Locations: - p.Asn346Ile (Ensembl:ENSMUST00000168039) - c.1037A>T (Ensembl:ENSMUST00000168039) Source type: large scale study Cross-references: | |||||||
rs3399885129 | 356 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000075.7:g.6376975T>A Codon: CAT/CAA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.6376975T>A Locations: - p.His356Gln (Ensembl:ENSMUST00000168039) - c.1068T>A (Ensembl:ENSMUST00000168039) Source type: large scale study Cross-references: | |||||||
rs3399794343 | 357 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000075.7:g.6376978T>A Codon: CAT/CAA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.6376978T>A Locations: - p.His357Gln (Ensembl:ENSMUST00000168039) - c.1071T>A (Ensembl:ENSMUST00000168039) Source type: large scale study Cross-references: |