P37172 · ACVR1_MOUSE
- ProteinActivin receptor type-1
- GeneAcvr1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids509 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3391564906 | 19 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000068.8:g.58390508G>T Codon: CCG/ACG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.58390508G>T Locations: - p.Pro19Thr (Ensembl:ENSMUST00000112599) - c.55C>A (Ensembl:ENSMUST00000112599) - p.Pro19Thr (Ensembl:ENSMUST00000090935) - c.55C>A (Ensembl:ENSMUST00000090935) - p.Pro19Thr (Ensembl:ENSMUST00000056376) - c.55C>A (Ensembl:ENSMUST00000056376) - p.Pro19Thr (Ensembl:ENSMUST00000112601) - c.55C>A (Ensembl:ENSMUST00000112601) Source type: large scale study Cross-references: | |||||||
rs3413147666 | 20 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000068.8:g.58390504C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.58390504C>G Locations: - p.Ser20Thr (Ensembl:ENSMUST00000112599) - c.59G>C (Ensembl:ENSMUST00000112599) - p.Ser20Thr (Ensembl:ENSMUST00000090935) - c.59G>C (Ensembl:ENSMUST00000090935) - p.Ser20Thr (Ensembl:ENSMUST00000056376) - c.59G>C (Ensembl:ENSMUST00000056376) - p.Ser20Thr (Ensembl:ENSMUST00000112601) - c.59G>C (Ensembl:ENSMUST00000112601) Source type: large scale study Cross-references: | |||||||
rs3391381762 | 21 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.48) Somatic: No Accession: NC_000068.8:g.58390501A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.58390501A>C Locations: - p.Val21Gly (Ensembl:ENSMUST00000112599) - c.62T>G (Ensembl:ENSMUST00000112599) - p.Val21Gly (Ensembl:ENSMUST00000090935) - c.62T>G (Ensembl:ENSMUST00000090935) - p.Val21Gly (Ensembl:ENSMUST00000056376) - c.62T>G (Ensembl:ENSMUST00000056376) - p.Val21Gly (Ensembl:ENSMUST00000112601) - c.62T>G (Ensembl:ENSMUST00000112601) Source type: large scale study Cross-references: | |||||||
rs3388555388 | 53 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.58369851A>T Codon: TGT/AGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.58369851A>T Locations: - p.Cys53Ser (Ensembl:ENSMUST00000112599) - c.157T>A (Ensembl:ENSMUST00000112599) - p.Cys53Ser (Ensembl:ENSMUST00000090935) - c.157T>A (Ensembl:ENSMUST00000090935) - p.Cys53Ser (Ensembl:ENSMUST00000056376) - c.157T>A (Ensembl:ENSMUST00000056376) - p.Cys53Ser (Ensembl:ENSMUST00000112601) - c.157T>A (Ensembl:ENSMUST00000112601) Source type: large scale study Cross-references: | |||||||
rs3388554919 | 88 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.46) Somatic: No Accession: NC_000068.8:g.58369745C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.58369745C>G Locations: - p.Gly88Ala (Ensembl:ENSMUST00000112599) - c.263G>C (Ensembl:ENSMUST00000112599) - p.Gly88Ala (Ensembl:ENSMUST00000090935) - c.263G>C (Ensembl:ENSMUST00000090935) - p.Gly88Ala (Ensembl:ENSMUST00000056376) - c.263G>C (Ensembl:ENSMUST00000056376) - p.Gly88Ala (Ensembl:ENSMUST00000112601) - c.263G>C (Ensembl:ENSMUST00000112601) Source type: large scale study Cross-references: | |||||||
rs3388556869 | 93 | C>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.58369729G>C Codon: TGC/TGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.58369729G>C Locations: - p.Cys93Trp (Ensembl:ENSMUST00000112599) - c.279C>G (Ensembl:ENSMUST00000112599) - p.Cys93Trp (Ensembl:ENSMUST00000090935) - c.279C>G (Ensembl:ENSMUST00000090935) - p.Cys93Trp (Ensembl:ENSMUST00000056376) - c.279C>G (Ensembl:ENSMUST00000056376) - p.Cys93Trp (Ensembl:ENSMUST00000112601) - c.279C>G (Ensembl:ENSMUST00000112601) Source type: large scale study Cross-references: | |||||||
rs27909411 | 115 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.28) Somatic: No Accession: NC_000068.8:g.58367817G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.58367817G>A Locations: - p.Pro115Ser (Ensembl:ENSMUST00000112599) - c.343C>T (Ensembl:ENSMUST00000112599) - p.Pro115Ser (Ensembl:ENSMUST00000090935) - c.343C>T (Ensembl:ENSMUST00000090935) - p.Pro115Ser (Ensembl:ENSMUST00000056376) - c.343C>T (Ensembl:ENSMUST00000056376) - p.Pro115Ser (Ensembl:ENSMUST00000112601) - c.343C>T (Ensembl:ENSMUST00000112601) Source type: large scale study Cross-references: | |||||||
rs3388556927 | 135 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000068.8:g.58367757C>G Codon: GTA/CTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.58367757C>G Locations: - p.Val135Leu (Ensembl:ENSMUST00000112599) - c.403G>C (Ensembl:ENSMUST00000112599) - p.Val135Leu (Ensembl:ENSMUST00000090935) - c.403G>C (Ensembl:ENSMUST00000090935) - p.Val135Leu (Ensembl:ENSMUST00000056376) - c.403G>C (Ensembl:ENSMUST00000056376) - p.Val135Leu (Ensembl:ENSMUST00000112601) - c.403G>C (Ensembl:ENSMUST00000112601) Source type: large scale study Cross-references: | |||||||
rs3388547077 | 182 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.58364284C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.58364284C>T Locations: - p.Glu182Lys (Ensembl:ENSMUST00000112599) - c.544G>A (Ensembl:ENSMUST00000112599) - p.Glu182Lys (Ensembl:ENSMUST00000090935) - c.544G>A (Ensembl:ENSMUST00000090935) - p.Glu182Lys (Ensembl:ENSMUST00000056376) - c.544G>A (Ensembl:ENSMUST00000056376) - p.Glu182Lys (Ensembl:ENSMUST00000112601) - c.544G>A (Ensembl:ENSMUST00000112601) Source type: large scale study Cross-references: | |||||||
rs3388552796 | 214 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000068.8:g.58364188C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.58364188C>T Locations: - p.Val214Ile (Ensembl:ENSMUST00000112599) - c.640G>A (Ensembl:ENSMUST00000112599) - p.Val214Ile (Ensembl:ENSMUST00000090935) - c.640G>A (Ensembl:ENSMUST00000090935) - p.Val214Ile (Ensembl:ENSMUST00000056376) - c.640G>A (Ensembl:ENSMUST00000056376) - p.Val214Ile (Ensembl:ENSMUST00000112601) - c.640G>A (Ensembl:ENSMUST00000112601) Source type: large scale study Cross-references: | |||||||
rs3388554809 | 216 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.58358669T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.58358669T>A Locations: - p.Lys216Met (Ensembl:ENSMUST00000112599) - c.647A>T (Ensembl:ENSMUST00000112599) - p.Lys216Met (Ensembl:ENSMUST00000090935) - c.647A>T (Ensembl:ENSMUST00000090935) - p.Lys216Met (Ensembl:ENSMUST00000056376) - c.647A>T (Ensembl:ENSMUST00000056376) - p.Lys216Met (Ensembl:ENSMUST00000112601) - c.647A>T (Ensembl:ENSMUST00000112601) Source type: large scale study Cross-references: | |||||||
rs3388553697 | 303 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000068.8:g.58353052C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.58353052C>T Locations: - p.Val303Ile (Ensembl:ENSMUST00000112599) - c.907G>A (Ensembl:ENSMUST00000112599) - p.Val303Ile (Ensembl:ENSMUST00000090935) - c.907G>A (Ensembl:ENSMUST00000090935) - p.Val303Ile (Ensembl:ENSMUST00000056376) - c.907G>A (Ensembl:ENSMUST00000056376) - p.Val303Ile (Ensembl:ENSMUST00000112601) - c.907G>A (Ensembl:ENSMUST00000112601) Source type: large scale study Cross-references: | |||||||
rs3388552770 | 306 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.58353043G>C Codon: CTT/GTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.58353043G>C Locations: - p.Leu306Val (Ensembl:ENSMUST00000112599) - c.916C>G (Ensembl:ENSMUST00000112599) - p.Leu306Val (Ensembl:ENSMUST00000090935) - c.916C>G (Ensembl:ENSMUST00000090935) - p.Leu306Val (Ensembl:ENSMUST00000056376) - c.916C>G (Ensembl:ENSMUST00000056376) - p.Leu306Val (Ensembl:ENSMUST00000112601) - c.916C>G (Ensembl:ENSMUST00000112601) Source type: large scale study Cross-references: | |||||||
rs3388554972 | 365 | T>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.58349067G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.58349067G>C Locations: - p.Thr365Arg (Ensembl:ENSMUST00000112599) - c.1094C>G (Ensembl:ENSMUST00000112599) - p.Thr365Arg (Ensembl:ENSMUST00000090935) - c.1094C>G (Ensembl:ENSMUST00000090935) - p.Thr365Arg (Ensembl:ENSMUST00000056376) - c.1094C>G (Ensembl:ENSMUST00000056376) - p.Thr365Arg (Ensembl:ENSMUST00000112601) - c.1094C>G (Ensembl:ENSMUST00000112601) Source type: large scale study Cross-references: | |||||||
rs864280404 | 412 | W>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.58348927A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.58348927A>G Locations: - p.Trp412Arg (Ensembl:ENSMUST00000112599) - c.1234T>C (Ensembl:ENSMUST00000112599) - p.Trp412Arg (Ensembl:ENSMUST00000090935) - c.1234T>C (Ensembl:ENSMUST00000090935) - p.Trp412Arg (Ensembl:ENSMUST00000056376) - c.1234T>C (Ensembl:ENSMUST00000056376) - p.Trp412Arg (Ensembl:ENSMUST00000112601) - c.1234T>C (Ensembl:ENSMUST00000112601) Source type: large scale study Cross-references: | |||||||
rs3388556143 | 432 | Y>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.47) Somatic: No Accession: NC_000068.8:g.58338427A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.58338427A>G Locations: - p.Tyr432His (Ensembl:ENSMUST00000112599) - c.1294T>C (Ensembl:ENSMUST00000112599) - p.Tyr432His (Ensembl:ENSMUST00000090935) - c.1294T>C (Ensembl:ENSMUST00000090935) - p.Tyr432His (Ensembl:ENSMUST00000056376) - c.1294T>C (Ensembl:ENSMUST00000056376) - p.Tyr432His (Ensembl:ENSMUST00000112601) - c.1294T>C (Ensembl:ENSMUST00000112601) Source type: large scale study Cross-references: | |||||||
rs3388555299 | 443 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000068.8:g.58338392A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.58338392A>T Locations: - p.Asp443Glu (Ensembl:ENSMUST00000112599) - c.1329T>A (Ensembl:ENSMUST00000112599) - p.Asp443Glu (Ensembl:ENSMUST00000090935) - c.1329T>A (Ensembl:ENSMUST00000090935) - p.Asp443Glu (Ensembl:ENSMUST00000056376) - c.1329T>A (Ensembl:ENSMUST00000056376) - p.Asp443Glu (Ensembl:ENSMUST00000112601) - c.1329T>A (Ensembl:ENSMUST00000112601) Source type: large scale study Cross-references: | |||||||
rs3388552177 | 451 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000068.8:g.58338368A>C Codon: GAT/GAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.58338368A>C Locations: - p.Asp451Glu (Ensembl:ENSMUST00000112599) - c.1353T>G (Ensembl:ENSMUST00000112599) - p.Asp451Glu (Ensembl:ENSMUST00000090935) - c.1353T>G (Ensembl:ENSMUST00000090935) - p.Asp451Glu (Ensembl:ENSMUST00000056376) - c.1353T>G (Ensembl:ENSMUST00000056376) - p.Asp451Glu (Ensembl:ENSMUST00000112601) - c.1353T>G (Ensembl:ENSMUST00000112601) Source type: large scale study Cross-references: | |||||||
rs3388552721 | 459 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.58338345T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.58338345T>C Locations: - p.Asn459Ser (Ensembl:ENSMUST00000112599) - c.1376A>G (Ensembl:ENSMUST00000112599) - p.Asn459Ser (Ensembl:ENSMUST00000090935) - c.1376A>G (Ensembl:ENSMUST00000090935) - p.Asn459Ser (Ensembl:ENSMUST00000056376) - c.1376A>G (Ensembl:ENSMUST00000056376) - p.Asn459Ser (Ensembl:ENSMUST00000112601) - c.1376A>G (Ensembl:ENSMUST00000112601) Source type: large scale study Cross-references: | |||||||
rs3388553737 | 495 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.58337598A>T Codon: TTG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.58337598A>T Locations: - p.Leu495Met (Ensembl:ENSMUST00000112599) - c.1483T>A (Ensembl:ENSMUST00000112599) - p.Leu495Met (Ensembl:ENSMUST00000090935) - c.1483T>A (Ensembl:ENSMUST00000090935) - p.Leu495Met (Ensembl:ENSMUST00000056376) - c.1483T>A (Ensembl:ENSMUST00000056376) - p.Leu495Met (Ensembl:ENSMUST00000112601) - c.1483T>A (Ensembl:ENSMUST00000112601) Source type: large scale study Cross-references: |