H0YHB8 · H0YHB8_HUMAN
- ProteinPhosphofructokinase, muscle
- GenePFKM
- 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 | ||
---|---|---|---|---|---|---|---|
rs769931714 | 6 | N>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.662) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.48137806A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48137806A>C Locations: - p.Asn6Thr (Ensembl:ENST00000552752) - c.17A>C (Ensembl:ENST00000552752) Source type: large scale study Cross-references: | |||||||
rs775564606 | 7 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.48137808C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48137808C>T Locations: - p.Gln7Ter (Ensembl:ENST00000552752) - c.19C>T (Ensembl:ENST00000552752) Source type: large scale study Cross-references: | |||||||
rs763289039 | 7 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.48137810G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48137810G>C Locations: - p.Gln7His (Ensembl:ENST00000552752) - c.21G>C (Ensembl:ENST00000552752) Source type: large scale study | |||||||
rs1406085192 | 8 | A>D | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.37) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.48137812C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48137812C>A Locations: - p.Ala8Asp (Ensembl:ENST00000552752) - c.23C>A (Ensembl:ENST00000552752) Source type: large scale study Cross-references: | |||||||
rs768875964 | 8 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated - low confidence (0.71) Somatic: No Accession: NC_000012.12:g.48137811G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48137811G>T Locations: - p.Ala8Ser (Ensembl:ENST00000552752) - c.22G>T (Ensembl:ENST00000552752) Source type: large scale study Cross-references: | |||||||
rs774805531 | 9 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.176) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000012.12:g.48137814G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48137814G>C Locations: - p.Val9Leu (Ensembl:ENST00000552752) - c.25G>C (Ensembl:ENST00000552752) Source type: large scale study | |||||||
rs774805531 | 9 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.585) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.48137814G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48137814G>A Locations: - p.Val9Met (Ensembl:ENST00000552752) - c.25G>A (Ensembl:ENST00000552752) Source type: large scale study | |||||||
CA6537179 COSV56657780 RCV000404608 rs762357629 | 10 | R>C | Glycogen storage disease, type VII (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000012.12:g.48137817C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48137817C>T Locations: - p.Arg10Cys (Ensembl:ENST00000552752) - c.28C>T (Ensembl:ENST00000552752) Disease association: - Glycogen storage disease, type VII (GSD7) Source type: large scale study | |||||||
rs768149447 | 10 | R>H | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000012.12:g.48137818G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48137818G>A Locations: - p.Arg10His (Ensembl:ENST00000552752) - c.29G>A (Ensembl:ENST00000552752) Source type: large scale study | |||||||
rs768149447 | 10 | R>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.48137818G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48137818G>T Locations: - p.Arg10Leu (Ensembl:ENST00000552752) - c.29G>T (Ensembl:ENST00000552752) Source type: large scale study | |||||||
RCV001802373 rs1203659685 | 13 | L>P | Glycogen storage disease, type VII (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000012.12:g.48137827T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48137827T>C Locations: - p.Leu13Pro (Ensembl:ENST00000552752) - c.38T>C (Ensembl:ENST00000552752) Disease association: - Glycogen storage disease, type VII (GSD7) Source type: large scale study Cross-references: | |||||||
rs1011037374 | 14 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.579) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.48137831G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48137831G>A Locations: - p.Met14Ile (Ensembl:ENST00000552752) - c.42G>A (Ensembl:ENST00000552752) Source type: large scale study Cross-references: | |||||||
RCV002261936 RCV003095914 RCV004047422 rs930337550 | 19 | V>M | Glycogen storage disease, type VII (ClinVar) Inborn genetic diseases (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.32) Somatic: No Population frequencies: - MAF: 0.00006 (ClinVar) Accession: NC_000012.12:g.48137844G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48137844G>A Locations: - p.Val19Met (Ensembl:ENST00000552752) - c.55G>A (Ensembl:ENST00000552752) Disease association: - Glycogen storage disease, type VII (GSD7) - Inborn genetic diseases Source type: large scale study Cross-references: | |||||||
rs2135975652 | 22 | D>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.615) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.48139291G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48139291G>C Locations: - p.Asp22His (Ensembl:ENST00000552752) - c.64G>C (Ensembl:ENST00000552752) Source type: large scale study Cross-references: | |||||||
rs1413177406 | 25 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.48139300A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48139300A>G Locations: - p.Lys25Glu (Ensembl:ENST00000552752) - c.73A>G (Ensembl:ENST00000552752) Source type: large scale study Cross-references: | |||||||
rs1950376840 | 25 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000012.12:g.48139301A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48139301A>G Locations: - p.Lys25Arg (Ensembl:ENST00000552752) - c.74A>G (Ensembl:ENST00000552752) Source type: large scale study Cross-references: | |||||||
rs763928206 | 26 | A>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.48139304C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48139304C>A Locations: - p.Ala26Asp (Ensembl:ENST00000552752) - c.77C>A (Ensembl:ENST00000552752) Source type: large scale study | |||||||
rs763928206 | 26 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.48139304C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48139304C>T Locations: - p.Ala26Val (Ensembl:ENST00000552752) - c.77C>T (Ensembl:ENST00000552752) Source type: large scale study | |||||||
COSV107349452 rs751471591 | 27 | M>I | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000012.12:g.48139308G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48139308G>A Locations: - p.Met27Ile (Ensembl:ENST00000552752) - c.81G>A (Ensembl:ENST00000552752) Source type: large scale study | |||||||
rs757220452 | 28 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.477) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000012.12:g.48139309G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48139309G>C Locations: - p.Asp28His (Ensembl:ENST00000552752) - c.82G>C (Ensembl:ENST00000552752) Source type: large scale study Cross-references: | |||||||
rs757220452 | 28 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.48) Somatic: No Accession: NC_000012.12:g.48139309G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48139309G>A Locations: - p.Asp28Asn (Ensembl:ENST00000552752) - c.82G>A (Ensembl:ENST00000552752) Source type: large scale study Cross-references: | |||||||
rs1950378957 | 31 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000012.12:g.48139319A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48139319A>G Locations: - p.Lys31Arg (Ensembl:ENST00000552752) - c.92A>G (Ensembl:ENST00000552752) Source type: large scale study Cross-references: | |||||||
rs779944637 | 32 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.901) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.48139321T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48139321T>C Locations: - p.Phe32Leu (Ensembl:ENST00000552752) - c.94T>C (Ensembl:ENST00000552752) Source type: large scale study Cross-references: | |||||||
rs1444578930 | 32 | F>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.324) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000012.12:g.48139322T>A Codon: TTT/TAT Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48139322T>A Locations: - p.Phe32Tyr (Ensembl:ENST00000552752) - c.95T>A (Ensembl:ENST00000552752) Source type: large scale study Cross-references: | |||||||
rs1010032674 | 33 | D>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.48139325A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48139325A>C Locations: - p.Asp33Ala (Ensembl:ENST00000552752) - c.98A>C (Ensembl:ENST00000552752) Source type: large scale study Cross-references: | |||||||
rs755087232 | 34 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.48139327G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48139327G>A Locations: - p.Glu34Lys (Ensembl:ENST00000552752) - c.100G>A (Ensembl:ENST00000552752) Source type: large scale study | |||||||
RCV000705427 rs531875148 | 35 | A>G | Glycogen storage disease, type VII (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.894) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000012.12:g.48139331C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48139331C>G Locations: - p.Ala35Gly (Ensembl:ENST00000552752) - c.104C>G (Ensembl:ENST00000552752) Disease association: - Glycogen storage disease, type VII (GSD7) Source type: large scale study Cross-references: | |||||||
rs779188270 | 35 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.894) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.48139330G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48139330G>A Locations: - p.Ala35Thr (Ensembl:ENST00000552752) - c.103G>A (Ensembl:ENST00000552752) Source type: large scale study | |||||||
rs531875148 | 35 | A>V | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.588) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.48139331C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48139331C>T Locations: - p.Ala35Val (Ensembl:ENST00000552752) - c.104C>T (Ensembl:ENST00000552752) Source type: large scale study | |||||||
rs1950380753 | 36 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.278) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.48139334T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48139334T>C Locations: - p.Leu36Pro (Ensembl:ENST00000552752) - c.107T>C (Ensembl:ENST00000552752) Source type: large scale study Cross-references: | |||||||
RCV001210553 rs1950380994 | 37 | K>E | Glycogen storage disease, type VII (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.48139336A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48139336A>G Locations: - p.Lys37Glu (Ensembl:ENST00000552752) - c.109A>G (Ensembl:ENST00000552752) Disease association: - Glycogen storage disease, type VII (GSD7) Source type: large scale study | |||||||
RCV001203122 rs375592512 | 37 | K>R | Glycogen storage disease, type VII (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.13) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000012.12:g.48139337A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48139337A>G Locations: - p.Lys37Arg (Ensembl:ENST00000552752) - c.110A>G (Ensembl:ENST00000552752) Disease association: - Glycogen storage disease, type VII (GSD7) Source type: large scale study Cross-references: | |||||||
RCV002261938 rs2135976330 | 40 | G>V | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.48139346G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48139346G>T Locations: - p.Gly40Val (Ensembl:ENST00000552752) - c.119G>T (Ensembl:ENST00000552752) Source type: large scale study | |||||||
rs773751749 | 41 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.898) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.48139348C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48139348C>G Locations: - p.Arg41Gly (Ensembl:ENST00000552752) - c.121C>G (Ensembl:ENST00000552752) Source type: large scale study | |||||||
rs187131358 | 41 | R>L | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.898) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000012.12:g.48139349G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48139349G>T Locations: - p.Arg41Leu (Ensembl:ENST00000552752) - c.122G>T (Ensembl:ENST00000552752) Source type: large scale study Cross-references: | |||||||
RCV000670080 rs187131358 | 41 | R>Q | Glycogen storage disease, type VII (ClinVar) | Variant of uncertain significance (Ensembl) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.903) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000012.12:g.48139349G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48139349G>A Locations: - p.Arg41Gln (Ensembl:ENST00000552752) - c.122G>A (Ensembl:ENST00000552752) Disease association: - Glycogen storage disease, type VII (GSD7) Source type: large scale study Cross-references: | |||||||
COSV99044414 rs773751749 | 41 | R>W | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000012.12:g.48139348C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 12q13.11 Genomic location: NC_000012.12:g.48139348C>T Locations: - p.Arg41Trp (Ensembl:ENST00000552752) - c.121C>T (Ensembl:ENST00000552752) Source type: large scale study Cross-references: |