D3YV22 · D3YV22_MOUSE
- ProteinExtracellular matrix protein 1
- GeneEcm1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids230 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs33141590 | 37 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000069.7:g.95645574C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95645574C>T Locations: - p.Arg37His (Ensembl:ENSMUST00000153026) - c.110G>A (Ensembl:ENSMUST00000153026) Source type: large scale study Cross-references: | |||||||
rs3388638956 | 43 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000069.7:g.95645555A>C Codon: CAT/CAG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95645555A>C Locations: - p.His43Gln (Ensembl:ENSMUST00000153026) - c.129T>G (Ensembl:ENSMUST00000153026) Source type: large scale study Cross-references: | |||||||
rs239077216 | 53 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.95645404G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95645404G>A Locations: - p.Pro53Leu (Ensembl:ENSMUST00000153026) - c.158C>T (Ensembl:ENSMUST00000153026) Source type: large scale study Cross-references: | |||||||
rs3388650129 | 58 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.34) Somatic: No Accession: NC_000069.7:g.95645388T>A Codon: AGA/AGT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95645388T>A Locations: - p.Arg58Ser (Ensembl:ENSMUST00000153026) - c.174A>T (Ensembl:ENSMUST00000153026) Source type: large scale study Cross-references: | |||||||
rs3388650130 | 62 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000069.7:g.95645378C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95645378C>T Locations: - p.Asp62Asn (Ensembl:ENSMUST00000153026) - c.184G>A (Ensembl:ENSMUST00000153026) Source type: large scale study Cross-references: | |||||||
rs3388646434 | 80 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000069.7:g.95645324C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95645324C>G Locations: - p.Gly80Arg (Ensembl:ENSMUST00000153026) - c.238G>C (Ensembl:ENSMUST00000153026) Source type: large scale study Cross-references: | |||||||
rs3541611171 | 86 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_000069.7:g.95645236T>G Codon: CAC/CCC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95645236T>G Locations: - p.His86Pro (Ensembl:ENSMUST00000153026) - c.257A>C (Ensembl:ENSMUST00000153026) Source type: large scale study Cross-references: | |||||||
rs3388641335 | 119 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.44) Somatic: No Accession: NC_000069.7:g.95645137T>A Codon: AAC/ATC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95645137T>A Locations: - p.Asn119Ile (Ensembl:ENSMUST00000153026) - c.356A>T (Ensembl:ENSMUST00000153026) Source type: large scale study Cross-references: | |||||||
rs33141301 | 127 | P>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000069.7:g.95645019G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95645019G>C Locations: - p.Pro127Arg (Ensembl:ENSMUST00000153026) - c.380C>G (Ensembl:ENSMUST00000153026) Source type: large scale study Cross-references: | |||||||
rs3541613520 | 153 | D>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000069.7:g.95644366T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95644366T>G Locations: - p.Asp153Ala (Ensembl:ENSMUST00000153026) - c.458A>C (Ensembl:ENSMUST00000153026) Source type: large scale study Cross-references: | |||||||
rs3388645040 | 172 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000069.7:g.95644089A>C Codon: TTG/GTG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95644089A>C Locations: - p.Leu172Val (Ensembl:ENSMUST00000153026) - c.514T>G (Ensembl:ENSMUST00000153026) Source type: large scale study Cross-references: | |||||||
rs3393424575 | 185 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000069.7:g.95644049G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95644049G>A Locations: - p.Pro185Leu (Ensembl:ENSMUST00000153026) - c.554C>T (Ensembl:ENSMUST00000153026) Source type: large scale study Cross-references: | |||||||
rs3393424601 | 188 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.95644040T>G Codon: CAC/CCC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95644040T>G Locations: - p.His188Pro (Ensembl:ENSMUST00000153026) - c.563A>C (Ensembl:ENSMUST00000153026) Source type: large scale study Cross-references: | |||||||
rs3393251093 | 190 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000069.7:g.95644035G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 3q Genomic location: NC_000069.7:g.95644035G>A Locations: - p.Gln190Ter (Ensembl:ENSMUST00000153026) - c.568C>T (Ensembl:ENSMUST00000153026) Source type: large scale study Cross-references: | |||||||
rs3393152686 | 190 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000069.7:g.95644034T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95644034T>C Locations: - p.Gln190Arg (Ensembl:ENSMUST00000153026) - c.569A>G (Ensembl:ENSMUST00000153026) Source type: large scale study Cross-references: | |||||||
rs3393377793 | 192 | G>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000069.7:g.95644029C>A Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 3q Genomic location: NC_000069.7:g.95644029C>A Locations: - p.Gly192Ter (Ensembl:ENSMUST00000153026) - c.574G>T (Ensembl:ENSMUST00000153026) Source type: large scale study Cross-references: | |||||||
rs3393366120 | 194 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.95644023T>C Codon: AGA/GGA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95644023T>C Locations: - p.Arg194Gly (Ensembl:ENSMUST00000153026) - c.580A>G (Ensembl:ENSMUST00000153026) Source type: large scale study Cross-references: | |||||||
rs3388650112 | 197 | W>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.95644014A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95644014A>G Locations: - p.Trp197Arg (Ensembl:ENSMUST00000153026) - c.589T>C (Ensembl:ENSMUST00000153026) Source type: large scale study Cross-references: | |||||||
rs3388643014 | 220 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000069.7:g.95643945G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95643945G>A Locations: - p.Pro220Ser (Ensembl:ENSMUST00000153026) - c.658C>T (Ensembl:ENSMUST00000153026) Source type: large scale study Cross-references: | |||||||
rs3388636362 | 221 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.8) Somatic: No Accession: NC_000069.7:g.95643940C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95643940C>A Locations: - p.Glu221Asp (Ensembl:ENSMUST00000153026) - c.663G>T (Ensembl:ENSMUST00000153026) Source type: large scale study Cross-references: | |||||||
rs3388638927 | 228 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.95643921C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95643921C>T Locations: - p.Gly228Ser (Ensembl:ENSMUST00000153026) - c.682G>A (Ensembl:ENSMUST00000153026) Source type: large scale study Cross-references: | |||||||
rs3388636455 | 230 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000069.7:g.95643913C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 3q Genomic location: NC_000069.7:g.95643913C>T Locations: - p.Trp230Ter (Ensembl:ENSMUST00000153026) - c.690G>A (Ensembl:ENSMUST00000153026) Source type: large scale study Cross-references: |