P26150 · 3BHS3_MOUSE
- Protein3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 3
- GeneHsd3b3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids373 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388645450 | 9 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000069.7:g.98660746G>C Codon: ACT/AGT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98660746G>C Locations: - p.Thr9Ser (Ensembl:ENSMUST00000090743) - c.26C>G (Ensembl:ENSMUST00000090743) - p.Thr9Ser (Ensembl:ENSMUST00000107019) - c.26C>G (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs3388641624 | 10 | G>DG* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000069.7:g.98660743_98660744insAACCAT Codon: GGA/GATGGTTGA Consequence type: stop gained Cytogenetic band: 3q Genomic location: NC_000069.7:g.98660743_98660744insAACCAT Locations: - p.Gly10delinsAspGlyTer (Ensembl:ENSMUST00000090743) - c.28_29insATGGTT (Ensembl:ENSMUST00000090743) - p.Gly10delinsAspGlyTer (Ensembl:ENSMUST00000107019) - c.28_29insATGGTT (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs3388649134 | 11 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000069.7:g.98660740G>C Codon: GCA/GGA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98660740G>C Locations: - p.Ala11Gly (Ensembl:ENSMUST00000090743) - c.32C>G (Ensembl:ENSMUST00000090743) - p.Ala11Gly (Ensembl:ENSMUST00000107019) - c.32C>G (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs3388647531 | 14 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000069.7:g.98660730A>T Codon: TTT/TTA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98660730A>T Locations: - p.Phe14Leu (Ensembl:ENSMUST00000090743) - c.42T>A (Ensembl:ENSMUST00000090743) - p.Phe14Leu (Ensembl:ENSMUST00000107019) - c.42T>A (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs3388649135 | 15 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000069.7:g.98660727C>A Codon: TTG/TTT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98660727C>A Locations: - p.Leu15Phe (Ensembl:ENSMUST00000090743) - c.45G>T (Ensembl:ENSMUST00000090743) - p.Leu15Phe (Ensembl:ENSMUST00000107019) - c.45G>T (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs3388650961 | 15 | L>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000069.7:g.98660728A>C Codon: TTG/TGG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98660728A>C Locations: - p.Leu15Trp (Ensembl:ENSMUST00000090743) - c.44T>G (Ensembl:ENSMUST00000090743) - p.Leu15Trp (Ensembl:ENSMUST00000107019) - c.44T>G (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs264633556 | 53 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000069.7:g.98651291C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98651291C>T Locations: - p.Ser53Asn (Ensembl:ENSMUST00000090743) - c.158G>A (Ensembl:ENSMUST00000090743) - p.Ser53Asn (Ensembl:ENSMUST00000107019) - c.158G>A (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs33186173 | 54 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.98651288A>T Codon: ATC/AAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98651288A>T Locations: - p.Ile54Asn (Ensembl:ENSMUST00000090743) - c.161T>A (Ensembl:ENSMUST00000090743) - p.Ile54Asn (Ensembl:ENSMUST00000107019) - c.161T>A (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs3388647546 | 87 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000069.7:g.98651190C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98651190C>T Locations: - p.Asp87Asn (Ensembl:ENSMUST00000090743) - c.259G>A (Ensembl:ENSMUST00000090743) - p.Asp87Asn (Ensembl:ENSMUST00000107019) - c.259G>A (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs3541664922 | 98 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000069.7:g.98651156A>G Codon: CTA/CCA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98651156A>G Locations: - p.Leu98Pro (Ensembl:ENSMUST00000090743) - c.293T>C (Ensembl:ENSMUST00000090743) - p.Leu98Pro (Ensembl:ENSMUST00000107019) - c.293T>C (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs3388641704 | 101 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.98651147T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98651147T>C Locations: - p.Asn101Ser (Ensembl:ENSMUST00000090743) - c.302A>G (Ensembl:ENSMUST00000090743) - p.Asn101Ser (Ensembl:ENSMUST00000107019) - c.302A>G (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs3388656958 | 105 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.98650008G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98650008G>C Locations: - p.Thr105Ser (Ensembl:ENSMUST00000090743) - c.314C>G (Ensembl:ENSMUST00000090743) - p.Thr105Ser (Ensembl:ENSMUST00000107019) - c.314C>G (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs3388640836 | 107 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000069.7:g.98650001G>C Codon: AAC/AAG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98650001G>C Locations: - p.Asn107Lys (Ensembl:ENSMUST00000090743) - c.321C>G (Ensembl:ENSMUST00000090743) - p.Asn107Lys (Ensembl:ENSMUST00000107019) - c.321C>G (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs3388656956 | 118 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000069.7:g.98649970G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98649970G>T Locations: - p.Pro118Thr (Ensembl:ENSMUST00000090743) - c.352C>A (Ensembl:ENSMUST00000090743) - p.Pro118Thr (Ensembl:ENSMUST00000107019) - c.352C>A (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs3388653577 | 120 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.98649964A>T Codon: TTC/ATC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98649964A>T Locations: - p.Phe120Ile (Ensembl:ENSMUST00000090743) - c.358T>A (Ensembl:ENSMUST00000090743) - p.Phe120Ile (Ensembl:ENSMUST00000107019) - c.358T>A (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs3388647193 | 125 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.69) Somatic: No Accession: NC_000069.7:g.98649949A>T Codon: TCA/ACA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98649949A>T Locations: - p.Ser125Thr (Ensembl:ENSMUST00000090743) - c.373T>A (Ensembl:ENSMUST00000090743) - p.Ser125Thr (Ensembl:ENSMUST00000107019) - c.373T>A (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs3388652667 | 134 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_000069.7:g.98649921T>A Codon: TAC/TTC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98649921T>A Locations: - p.Tyr134Phe (Ensembl:ENSMUST00000090743) - c.401A>T (Ensembl:ENSMUST00000090743) - p.Tyr134Phe (Ensembl:ENSMUST00000107019) - c.401A>T (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs578945445 | 173 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: NC_000069.7:g.98649803C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98649803C>T Locations: - p.Met173Ile (Ensembl:ENSMUST00000090743) - c.519G>A (Ensembl:ENSMUST00000090743) - p.Met173Ile (Ensembl:ENSMUST00000107019) - c.519G>A (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs33189704 | 196 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000069.7:g.98649735T>C Codon: CAA/CGA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98649735T>C Locations: - p.Gln196Arg (Ensembl:ENSMUST00000090743) - c.587A>G (Ensembl:ENSMUST00000090743) - p.Gln196Arg (Ensembl:ENSMUST00000107019) - c.587A>G (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs3388654975 | 203 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000069.7:g.98649715T>A Codon: ATT/TTT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98649715T>A Locations: - p.Ile203Phe (Ensembl:ENSMUST00000090743) - c.607A>T (Ensembl:ENSMUST00000090743) - p.Ile203Phe (Ensembl:ENSMUST00000107019) - c.607A>T (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs259444304 | 204 | K>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: NC_000069.7:g.98649711T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98649711T>G Locations: - p.Lys204Thr (Ensembl:ENSMUST00000090743) - c.611A>C (Ensembl:ENSMUST00000090743) - p.Lys204Thr (Ensembl:ENSMUST00000107019) - c.611A>C (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs3388656911 | 237 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000069.7:g.98649613C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98649613C>A Locations: - p.Ala237Ser (Ensembl:ENSMUST00000090743) - c.709G>T (Ensembl:ENSMUST00000090743) - p.Ala237Ser (Ensembl:ENSMUST00000107019) - c.709G>T (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs582199445 | 242 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000069.7:g.98649598T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98649598T>C Locations: - p.Asn242Asp (Ensembl:ENSMUST00000090743) - c.724A>G (Ensembl:ENSMUST00000090743) - p.Asn242Asp (Ensembl:ENSMUST00000107019) - c.724A>G (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs3388653234 | 264 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.98649532T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98649532T>C Locations: - p.Ser264Gly (Ensembl:ENSMUST00000090743) - c.790A>G (Ensembl:ENSMUST00000090743) - p.Ser264Gly (Ensembl:ENSMUST00000107019) - c.790A>G (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs262068587 | 266 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000069.7:g.98649525T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98649525T>C Locations: - p.Asp266Gly (Ensembl:ENSMUST00000090743) - c.797A>G (Ensembl:ENSMUST00000090743) - p.Asp266Gly (Ensembl:ENSMUST00000107019) - c.797A>G (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs221419814 | 283 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.54) Somatic: No Accession: NC_000069.7:g.98649473C>G Codon: AGG/AGC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98649473C>G Locations: - p.Arg283Ser (Ensembl:ENSMUST00000090743) - c.849G>C (Ensembl:ENSMUST00000090743) - p.Arg283Ser (Ensembl:ENSMUST00000107019) - c.849G>C (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs3388647533 | 289 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.72) Somatic: No Accession: NC_000069.7:g.98649457G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98649457G>T Locations: - p.Pro289Thr (Ensembl:ENSMUST00000090743) - c.865C>A (Ensembl:ENSMUST00000090743) - p.Pro289Thr (Ensembl:ENSMUST00000107019) - c.865C>A (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs1134495795 | 290 | I>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000069.7:g.98649454T>G Codon: ATA/CTA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98649454T>G Locations: - p.Ile290Leu (Ensembl:ENSMUST00000090743) - c.868A>C (Ensembl:ENSMUST00000090743) - p.Ile290Leu (Ensembl:ENSMUST00000107019) - c.868A>C (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs1134159640 | 290 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000069.7:g.98649452T>C Codon: ATA/ATG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98649452T>C Locations: - p.Ile290Met (Ensembl:ENSMUST00000090743) - c.870A>G (Ensembl:ENSMUST00000090743) - p.Ile290Met (Ensembl:ENSMUST00000107019) - c.870A>G (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs3388654948 | 305 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000069.7:g.98649408A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98649408A>G Locations: - p.Leu305Pro (Ensembl:ENSMUST00000090743) - c.914T>C (Ensembl:ENSMUST00000090743) - p.Leu305Pro (Ensembl:ENSMUST00000107019) - c.914T>C (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs3388633209 | 308 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.98649399A>T Codon: ATC/AAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98649399A>T Locations: - p.Ile308Asn (Ensembl:ENSMUST00000090743) - c.923T>A (Ensembl:ENSMUST00000090743) - p.Ile308Asn (Ensembl:ENSMUST00000107019) - c.923T>A (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs3388647149 | 325 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000069.7:g.98649349T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98649349T>C Locations: - p.Ser325Gly (Ensembl:ENSMUST00000090743) - c.973A>G (Ensembl:ENSMUST00000090743) - p.Ser325Gly (Ensembl:ENSMUST00000107019) - c.973A>G (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs3388649608 | 345 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000069.7:g.98649289T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98649289T>A Locations: - p.Ser345Cys (Ensembl:ENSMUST00000090743) - c.1033A>T (Ensembl:ENSMUST00000090743) - p.Ser345Cys (Ensembl:ENSMUST00000107019) - c.1033A>T (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs3388647170 | 370 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000069.7:g.98649213G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98649213G>A Locations: - p.Thr370Ile (Ensembl:ENSMUST00000090743) - c.1109C>T (Ensembl:ENSMUST00000090743) - p.Thr370Ile (Ensembl:ENSMUST00000107019) - c.1109C>T (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: | |||||||
rs216537148 | 371 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000069.7:g.98649211T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.98649211T>C Locations: - p.Lys371Glu (Ensembl:ENSMUST00000090743) - c.1111A>G (Ensembl:ENSMUST00000090743) - p.Lys371Glu (Ensembl:ENSMUST00000107019) - c.1111A>G (Ensembl:ENSMUST00000107019) Source type: large scale study Cross-references: |