P51125 · ICAL_MOUSE
- ProteinCalpastatin
- GeneCast
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids788 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389306049 | 51 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000079.7:g.74928680C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74928680C>A Locations: - p.Ser51Ile (Ensembl:ENSMUST00000223206) - c.152G>T (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3389252016 | 52 | L>W | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000079.7:g.74928677A>C Codon: TTG/TGG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74928677A>C Locations: - p.Leu52Trp (Ensembl:ENSMUST00000223206) - c.155T>G (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3550334347 | 64 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000079.7:g.74928640T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74928640T>A Locations: - p.Glu64Asp (Ensembl:ENSMUST00000223206) - c.192A>T (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs225232984 | 67 | T>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000079.7:g.74928632G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74928632G>C Locations: - p.Thr67Arg (Ensembl:ENSMUST00000223206) - c.200C>G (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3404449440 | 72 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000079.7:g.74902486T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74902486T>C Locations: - p.Thr72Ala (Ensembl:ENSMUST00000223206) - c.214A>G (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3389301097 | 72 | T>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000079.7:g.74902485G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74902485G>C Locations: - p.Thr72Arg (Ensembl:ENSMUST00000223206) - c.215C>G (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3389306075 | 76 | A>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000079.7:g.74902473G>T Codon: GCT/GAT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74902473G>T Locations: - p.Ala76Asp (Ensembl:ENSMUST00000223206) - c.227C>A (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs255092718 | 106 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000079.7:g.74896934G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74896934G>T Locations: - p.Pro106His (Ensembl:ENSMUST00000223206) - c.317C>A (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs255686470 | 123 | Q>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000079.7:g.74894754T>G Codon: CAA/CCA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74894754T>G Locations: - p.Gln123Pro (Ensembl:ENSMUST00000223206) - c.368A>C (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3550407074 | 131 | S>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: NC_000079.7:g.74894731A>C Codon: TCA/GCA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74894731A>C Locations: - p.Ser131Ala (Ensembl:ENSMUST00000223206) - c.391T>G (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs217183262 | 142 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000079.7:g.74894219T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74894219T>C Locations: - p.Lys142Arg (Ensembl:ENSMUST00000223206) - c.425A>G (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3550365013 | 152 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000079.7:g.74894189C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74894189C>T Locations: - p.Gly152Glu (Ensembl:ENSMUST00000223206) - c.455G>A (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3389252087 | 156 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000079.7:g.74894177G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74894177G>A Locations: - p.Ala156Val (Ensembl:ENSMUST00000223206) - c.467C>T (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs246282204 | 158 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000079.7:g.74894172T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74894172T>C Locations: - p.Lys158Glu (Ensembl:ENSMUST00000223206) - c.472A>G (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3389297117 | 173 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000079.7:g.74894125T>A Codon: AAA/AAT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74894125T>A Locations: - p.Lys173Asn (Ensembl:ENSMUST00000223206) - c.519A>T (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs1134563428 | 192 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000079.7:g.74892799C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74892799C>A Locations: - p.Val192Leu (Ensembl:ENSMUST00000223206) - c.574G>T (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3550435389 | 193 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.78) Somatic: No Accession: NC_000079.7:g.74892795G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74892795G>A Locations: - p.Ala193Val (Ensembl:ENSMUST00000223206) - c.578C>T (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs1133981372 | 200 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: NC_000079.7:g.74892775T>A Codon: ACT/TCT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74892775T>A Locations: - p.Thr200Ser (Ensembl:ENSMUST00000223206) - c.598A>T (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs248234034 | 214 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000079.7:g.74889521G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74889521G>A Locations: - p.Pro214Ser (Ensembl:ENSMUST00000223206) - c.640C>T (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs230650361 | 216 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.31) Somatic: No Accession: NC_000079.7:g.74889515T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74889515T>C Locations: - p.Thr216Ala (Ensembl:ENSMUST00000223206) - c.646A>G (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs47342263 | 219 | S>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000079.7:g.74889505G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74889505G>A Locations: - p.Ser219Leu (Ensembl:ENSMUST00000223206) - c.656C>T (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs254587801 | 221 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000079.7:g.74889499A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74889499A>T Locations: - p.Val221Glu (Ensembl:ENSMUST00000223206) - c.662T>A (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs216391960 | 225 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000079.7:g.74889487G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74889487G>A Locations: - p.Pro225Leu (Ensembl:ENSMUST00000223206) - c.674C>T (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs216391960 | 225 | P>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000079.7:g.74889487G>T Codon: CCG/CAG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74889487G>T Locations: - p.Pro225Gln (Ensembl:ENSMUST00000223206) - c.674C>A (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs260961829 | 237 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000079.7:g.74888038G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74888038G>A Locations: - p.Ala237Val (Ensembl:ENSMUST00000223206) - c.710C>T (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs51287199 | 253 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000079.7:g.74887990C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74887990C>T Locations: - p.Arg253Lys (Ensembl:ENSMUST00000223206) - c.758G>A (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs49023145 | 261 | P>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000079.7:g.74887967G>C Codon: CCA/GCA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74887967G>C Locations: - p.Pro261Ala (Ensembl:ENSMUST00000223206) - c.781C>G (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3389286646 | 272-273 | LE>VS | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000079.7:g.74886393_74886394insCACACTACCTCAACCATCACTCAC Codon: GAG/GTGAGTGATGGTTGAGGTAGTGTGGAG Consequence type: stop gained Cytogenetic band: 13q Genomic location: NC_000079.7:g.74886393_74886394insCACACTACCTCAACCATCACTCAC Locations: - p.Leu272_Glu273insValSerAspGlyTer (Ensembl:ENSMUST00000223206) - c.817_818insTGAGTGATGGTTGAGGTAGTGTGG (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3389260857 | 274 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000079.7:g.74886389G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74886389G>A Locations: - p.Ala274Val (Ensembl:ENSMUST00000223206) - c.821C>T (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3389289163 | 288 | K>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000079.7:g.74886347T>G Codon: AAA/ACA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74886347T>G Locations: - p.Lys288Thr (Ensembl:ENSMUST00000223206) - c.863A>C (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3403918599 | 294 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: NC_000079.7:g.74885740T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74885740T>C Locations: - p.Glu294Gly (Ensembl:ENSMUST00000223206) - c.881A>G (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3389296946 | 296 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000079.7:g.74885733G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74885733G>C Locations: - p.Ile296Met (Ensembl:ENSMUST00000223206) - c.888C>G (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs235580587 | 297 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000079.7:g.74885731G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74885731G>A Locations: - p.Thr297Ile (Ensembl:ENSMUST00000223206) - c.890C>T (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3389221595 | 310 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000079.7:g.74885126C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74885126C>A Locations: - p.Asp310Tyr (Ensembl:ENSMUST00000223206) - c.928G>T (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3389295586 | 335 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000079.7:g.74884949G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74884949G>C Locations: - p.Ser335Cys (Ensembl:ENSMUST00000223206) - c.1004C>G (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3389286627 | 339 | I>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000079.7:g.74884942_74884943insTCCACACTACCTCAACCATCACTCA Codon: GGG/GGTGAGTGATGGTTGAGGTAGTGTGGAG Consequence type: stop gained Cytogenetic band: 13q Genomic location: NC_000079.7:g.74884942_74884943insTCCACACTACCTCAACCATCACTCA Locations: - p.Ile339Ter (Ensembl:ENSMUST00000223206) - c.1010_1011insTGAGTGATGGTTGAGGTAGTGTGGA (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3389295619 | 362 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000079.7:g.74884868T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74884868T>C Locations: - p.Glu362Gly (Ensembl:ENSMUST00000223206) - c.1085A>G (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3550334486 | 389 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000079.7:g.74883375C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74883375C>T Locations: - p.Val389Ile (Ensembl:ENSMUST00000223206) - c.1165G>A (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs50664780 | 396 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000079.7:g.74883352T>G Codon: AAA/AAC Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74883352T>G Locations: - p.Lys396Asn (Ensembl:ENSMUST00000223206) - c.1188A>C (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3412696382 | 405 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.84) Somatic: No Accession: NC_000079.7:g.74880274T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74880274T>C Locations: - p.Gln405Arg (Ensembl:ENSMUST00000223206) - c.1214A>G (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3389297118 | 420 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000079.7:g.74880229C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74880229C>T Locations: - p.Arg420Lys (Ensembl:ENSMUST00000223206) - c.1259G>A (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs48323767 | 436 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000079.7:g.74879214G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74879214G>A Locations: - p.Pro436Leu (Ensembl:ENSMUST00000223206) - c.1307C>T (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3550334339 | 458 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.93) Somatic: No Accession: NC_000079.7:g.74876499C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74876499C>T Locations: - p.Arg458Gln (Ensembl:ENSMUST00000223206) - c.1373G>A (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3389297189 | 465 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000079.7:g.74876479G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74876479G>A Locations: - p.Pro465Ser (Ensembl:ENSMUST00000223206) - c.1393C>T (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs229107486 | 481 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: NC_000079.7:g.74875461G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74875461G>A Locations: - p.Pro481Leu (Ensembl:ENSMUST00000223206) - c.1442C>T (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs229107486 | 481 | P>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.42) Somatic: No Accession: NC_000079.7:g.74875461G>C Codon: CCG/CGG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74875461G>C Locations: - p.Pro481Arg (Ensembl:ENSMUST00000223206) - c.1442C>G (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3389286632 | 490 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.44) Somatic: No Accession: NC_000079.7:g.74875433C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74875433C>T Locations: - p.Met490Ile (Ensembl:ENSMUST00000223206) - c.1470G>A (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs259350892 | 494 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000079.7:g.74875422C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74875422C>T Locations: - p.Arg494Gln (Ensembl:ENSMUST00000223206) - c.1481G>A (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3389289181 | 504 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_000079.7:g.74873582C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74873582C>A Locations: - p.Lys504Asn (Ensembl:ENSMUST00000223206) - c.1512G>T (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs228529678 | 506 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: NC_000079.7:g.74873578C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74873578C>A Locations: - p.Val506Leu (Ensembl:ENSMUST00000223206) - c.1516G>T (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs6193543 | 523 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000079.7:g.74873527C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74873527C>T Locations: - p.Glu523Lys (Ensembl:ENSMUST00000223206) - c.1567G>A (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs221638719 | 528 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000079.7:g.74873512G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74873512G>A Locations: - p.His528Tyr (Ensembl:ENSMUST00000223206) - c.1582C>T (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3389289179 | 530 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000079.7:g.74873506T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74873506T>C Locations: - p.Lys530Glu (Ensembl:ENSMUST00000223206) - c.1588A>G (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3389291962 | 536 | V>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000079.7:g.74873488C>A Codon: GTC/TTC Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74873488C>A Locations: - p.Val536Phe (Ensembl:ENSMUST00000223206) - c.1606G>T (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs252855486 | 638 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000079.7:g.74861770T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74861770T>C Locations: - p.Thr638Ala (Ensembl:ENSMUST00000223206) - c.1912A>G (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3389221594 | 669 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: NC_000079.7:g.74852237G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74852237G>T Locations: - p.Leu669Met (Ensembl:ENSMUST00000223206) - c.2005C>A (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3389309104 | 672 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000079.7:g.74852227T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74852227T>C Locations: - p.Lys672Arg (Ensembl:ENSMUST00000223206) - c.2015A>G (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs264372106 | 702 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000079.7:g.74850687T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74850687T>C Locations: - p.Asn702Ser (Ensembl:ENSMUST00000223206) - c.2105A>G (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3389252029 | 706 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000079.7:g.74849369T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74849369T>A Locations: - p.Asp706Val (Ensembl:ENSMUST00000223206) - c.2117A>T (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs3389252039 | 720 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.52) Somatic: No Accession: NC_000079.7:g.74848827A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74848827A>T Locations: - p.Asp720Glu (Ensembl:ENSMUST00000223206) - c.2160T>A (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs49359780 | 723 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.61) Somatic: No Accession: NC_000079.7:g.74848819C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74848819C>T Locations: - p.Arg723Gln (Ensembl:ENSMUST00000223206) - c.2168G>A (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs49265107 | 749 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_000079.7:g.74847291C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74847291C>T Locations: - p.Gly749Glu (Ensembl:ENSMUST00000223206) - c.2246G>A (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs249266230 | 776 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000079.7:g.74844058A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74844058A>T Locations: - p.Val776Glu (Ensembl:ENSMUST00000223206) - c.2327T>A (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: | |||||||
rs218159535 | 787 | H>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.36) Somatic: No Accession: NC_000079.7:g.74844025T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.74844025T>C Locations: - p.His787Arg (Ensembl:ENSMUST00000223206) - c.2360A>G (Ensembl:ENSMUST00000223206) Source type: large scale study Cross-references: |