E9PQF3 · E9PQF3_HUMAN
- ProteinRegulation of nuclear pre-mRNA domain containing 1B
- GeneRPRD1B
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs569603967 | 2 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.902) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.38033952C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.38033952C>T Locations: - p.Ser2Phe (Ensembl:ENST00000462548) - c.5C>T (Ensembl:ENST00000462548) Source type: large scale study Cross-references: | |||||||
rs540457724 | 3 | S>C | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.799) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.38033955C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.38033955C>G Locations: - p.Ser3Cys (Ensembl:ENST00000462548) - c.8C>G (Ensembl:ENST00000462548) Source type: large scale study | |||||||
rs540457724 | 3 | S>F | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.681) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.38033955C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.38033955C>T Locations: - p.Ser3Phe (Ensembl:ENST00000462548) - c.8C>T (Ensembl:ENST00000462548) Source type: large scale study | |||||||
rs2073962087 | 4 | F>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.38033958T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.38033958T>C Locations: - p.Phe4Ser (Ensembl:ENST00000462548) - c.11T>C (Ensembl:ENST00000462548) Source type: large scale study Cross-references: | |||||||
rs148316804 | 7 | S>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.173) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000020.11:g.38033967C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.38033967C>T Locations: - p.Ser7Leu (Ensembl:ENST00000462548) - c.20C>T (Ensembl:ENST00000462548) Source type: large scale study Cross-references: | |||||||
rs2073962525 | 14 | S>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.17) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000020.11:g.38033988C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.38033988C>T Locations: - p.Ser14Leu (Ensembl:ENST00000462548) - c.41C>T (Ensembl:ENST00000462548) Source type: large scale study Cross-references: | |||||||
rs760006567 | 18 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000020.11:g.38034000A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.38034000A>G Locations: - p.Asn18Ser (Ensembl:ENST00000462548) - c.53A>G (Ensembl:ENST00000462548) Source type: large scale study | |||||||
rs2073962745 | 18 | N>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.38033999A>T Codon: AAC/TAC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.38033999A>T Locations: - p.Asn18Tyr (Ensembl:ENST00000462548) - c.52A>T (Ensembl:ENST00000462548) Source type: large scale study Cross-references: | |||||||
rs17853182 | 21 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000020.11:g.38034010G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.38034010G>C Locations: - p.Gln21His (Ensembl:ENST00000462548) - c.63G>C (Ensembl:ENST00000462548) Source type: large scale study Cross-references: | |||||||
rs200559318 | 23 | V>M | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000020.11:g.38034014G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.38034014G>A Locations: - p.Val23Met (Ensembl:ENST00000462548) - c.67G>A (Ensembl:ENST00000462548) Source type: large scale study | |||||||
rs2073963227 | 27 | S>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000020.11:g.38034026T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.38034026T>G Locations: - p.Ser27Ala (Ensembl:ENST00000462548) - c.79T>G (Ensembl:ENST00000462548) Source type: large scale study Cross-references: | |||||||
rs1190605520 | 36 | H>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.38034053C>G Codon: CAC/GAC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.38034053C>G Locations: - p.His36Asp (Ensembl:ENST00000462548) - c.106C>G (Ensembl:ENST00000462548) Source type: large scale study Cross-references: | |||||||
rs1390924572 | 37 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.488) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000020.11:g.38034057C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.38034057C>T Locations: - p.Ala37Val (Ensembl:ENST00000462548) - c.110C>T (Ensembl:ENST00000462548) Source type: large scale study Cross-references: | |||||||
rs1222942744 | 38 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.63) Somatic: No Accession: NC_000020.11:g.38034059G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.38034059G>A Locations: - p.Gly38Arg (Ensembl:ENST00000462548) - c.112G>A (Ensembl:ENST00000462548) Source type: large scale study Cross-references: | |||||||
rs767815952 | 39 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.76) Somatic: No Accession: NC_000020.11:g.38034062C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.38034062C>G Locations: - p.Pro39Ala (Ensembl:ENST00000462548) - c.115C>G (Ensembl:ENST00000462548) Source type: large scale study | |||||||
rs776063944 | 39 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.45) Somatic: No Accession: NC_000020.11:g.38034063C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.38034063C>T Locations: - p.Pro39Leu (Ensembl:ENST00000462548) - c.116C>T (Ensembl:ENST00000462548) Source type: large scale study Cross-references: | |||||||
rs776063944 | 39 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.112) - SIFT: tolerated - low confidence (0.41) Somatic: No Accession: NC_000020.11:g.38034063C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.38034063C>G Locations: - p.Pro39Arg (Ensembl:ENST00000462548) - c.116C>G (Ensembl:ENST00000462548) Source type: large scale study Cross-references: | |||||||
rs767815952 | 39 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.66) Somatic: No Accession: NC_000020.11:g.38034062C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.38034062C>T Locations: - p.Pro39Ser (Ensembl:ENST00000462548) - c.115C>T (Ensembl:ENST00000462548) Source type: large scale study | |||||||
rs2122678355 | 40 | I>T | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.498) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.38034066T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.38034066T>C Locations: - p.Ile40Thr (Ensembl:ENST00000462548) - c.119T>C (Ensembl:ENST00000462548) Source type: large scale study Cross-references: | |||||||
rs1361240941 | 40 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000020.11:g.38034065A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.38034065A>G Locations: - p.Ile40Val (Ensembl:ENST00000462548) - c.118A>G (Ensembl:ENST00000462548) Source type: large scale study Cross-references: | |||||||
rs754260598 | 49 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.78) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000020.11:g.38034092C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.38034092C>T Locations: - p.Arg49Cys (Ensembl:ENST00000462548) - c.145C>T (Ensembl:ENST00000462548) Source type: large scale study | |||||||
rs2073964511 | 50 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.634) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000020.11:g.38034096A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.38034096A>G Locations: - p.Lys50Arg (Ensembl:ENST00000462548) - c.149A>G (Ensembl:ENST00000462548) Source type: large scale study Cross-references: | |||||||
rs2122706389 | 53 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000020.11:g.38048355G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.38048355G>T Locations: - p.Gln53His (Ensembl:ENST00000462548) - c.159G>T (Ensembl:ENST00000462548) Source type: large scale study Cross-references: | |||||||
rs778997790 | 55 | K>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000020.11:g.38048360A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.38048360A>C Locations: - p.Lys55Thr (Ensembl:ENST00000462548) - c.164A>C (Ensembl:ENST00000462548) Source type: large scale study Cross-references: | |||||||
rs2074141593 | 56 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.41) Somatic: No Accession: NC_000020.11:g.38048362G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.38048362G>T Locations: - p.Ala56Ser (Ensembl:ENST00000462548) - c.166G>T (Ensembl:ENST00000462548) Source type: large scale study Cross-references: | |||||||
rs750344460 | 60 | L>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.337) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.38048375T>A Codon: CTT/CAT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.38048375T>A Locations: - p.Leu60His (Ensembl:ENST00000462548) - c.179T>A (Ensembl:ENST00000462548) Source type: large scale study | |||||||
rs1284761164 | 61 | *>W | TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000020.11:g.38048378A>G Codon: TAG/TGG Consequence type: stop lost Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.38048378A>G Locations: - p.Ter61TrpextTer4 (Ensembl:ENST00000462548) - c.182A>G (Ensembl:ENST00000462548) Source type: large scale study Cross-references: |