Q3USY0 · S38AB_MOUSE
- ProteinPutative sodium-coupled neutral amino acid transporter 11
- GeneSlc38a11
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids453 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs229331536 | 9 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.56) Somatic: No Accession: NC_000068.8:g.65194237G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65194237G>C Locations: - p.Ser9Arg (Ensembl:ENSMUST00000112420) - c.27C>G (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs234698592 | 25 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000068.8:g.65193776G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65193776G>C Locations: - p.Ile25Met (Ensembl:ENSMUST00000112420) - c.75C>G (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs27978824 | 25 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.65193778T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65193778T>C Locations: - p.Ile25Val (Ensembl:ENSMUST00000112420) - c.73A>G (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs3388558915 | 29 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.4) Somatic: No Accession: NC_000068.8:g.65193764T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65193764T>A Locations: - p.Glu29Asp (Ensembl:ENSMUST00000112420) - c.87A>T (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs3388550108 | 50 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000068.8:g.65193703A>T Codon: TCT/ACT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65193703A>T Locations: - p.Ser50Thr (Ensembl:ENSMUST00000112420) - c.148T>A (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs3388553252 | 52 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000068.8:g.65193695T>C Codon: ATA/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65193695T>C Locations: - p.Ile52Met (Ensembl:ENSMUST00000112420) - c.156A>G (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs27978833 | 59 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000068.8:g.65191729C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65191729C>T Locations: - p.Met59Ile (Ensembl:ENSMUST00000112420) - c.177G>A (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs3388555863 | 62 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.65191722C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65191722C>T Locations: - p.Ala62Thr (Ensembl:ENSMUST00000112420) - c.184G>A (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs3388551988 | 70 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.65191697A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65191697A>G Locations: - p.Leu70Pro (Ensembl:ENSMUST00000112420) - c.209T>C (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs3388555112 | 143 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000068.8:g.65185677G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65185677G>A Locations: - p.Leu143Phe (Ensembl:ENSMUST00000112420) - c.427C>T (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs3388558926 | 159 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.65184174A>T Codon: ATT/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65184174A>T Locations: - p.Ile159Asn (Ensembl:ENSMUST00000112420) - c.476T>A (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs3388550065 | 181 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.65184109T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65184109T>C Locations: - p.Lys181Glu (Ensembl:ENSMUST00000112420) - c.541A>G (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs3391686424 | 219 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.72) Somatic: No Accession: NC_000068.8:g.65166113C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65166113C>G Locations: - p.Lys219Asn (Ensembl:ENSMUST00000112420) - c.657G>C (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs3388553613 | 240 | F>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.65165072A>C Codon: TTC/GTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65165072A>C Locations: - p.Phe240Val (Ensembl:ENSMUST00000112420) - c.718T>G (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs3388558924 | 251 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.34) Somatic: No Accession: NC_000068.8:g.65165038A>T Codon: GTA/GAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65165038A>T Locations: - p.Val251Glu (Ensembl:ENSMUST00000112420) - c.752T>A (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs234322172 | 252 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000068.8:g.65165035G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65165035G>A Locations: - p.Ala252Val (Ensembl:ENSMUST00000112420) - c.755C>T (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs3388552018 | 268 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.44) Somatic: No Accession: NC_000068.8:g.65164988T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65164988T>C Locations: - p.Ile268Val (Ensembl:ENSMUST00000112420) - c.802A>G (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs3388555492 | 286 | G>V | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.65160737_65160738insACACTACCTCAACCATCACTCAC Codon: GGA/GTGAGTGATGGTTGAGGTAGTGTGGA Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.65160737_65160738insACACTACCTCAACCATCACTCAC Locations: - p.Gly286ValfsTer5 (Ensembl:ENSMUST00000112420) - c.857-1_857insTGAGTGATGGTTGAGGTAGTGTG (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs3388555197 | 287 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000068.8:g.65160732G>T, NC_000068.8:g.65160732G>C Codon: GAC/GAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65160732G>T, NC_000068.8:g.65160732G>C Locations: - p.Asp287Glu (Ensembl:ENSMUST00000112420) - c.861C>A (Ensembl:ENSMUST00000112420) - c.861C>G (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs3388553215 | 287 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.65160733T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65160733T>C Locations: - p.Asp287Gly (Ensembl:ENSMUST00000112420) - c.860A>G (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs3388553215 | 287 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.65160733T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65160733T>A Locations: - p.Asp287Val (Ensembl:ENSMUST00000112420) - c.860A>T (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs3388555854 | 288 | L>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.65160730A>T Codon: TTG/TAG Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.65160730A>T Locations: - p.Leu288Ter (Ensembl:ENSMUST00000112420) - c.863T>A (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs248653443 | 294 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.57) Somatic: No Accession: NC_000068.8:g.65160712C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65160712C>T Locations: - p.Arg294Lys (Ensembl:ENSMUST00000112420) - c.881G>A (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs3388556436 | 297 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.53) Somatic: No Accession: NC_000068.8:g.65160704C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65160704C>T Locations: - p.Asp297Asn (Ensembl:ENSMUST00000112420) - c.889G>A (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs240528517 | 327 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000068.8:g.65156990A>T Codon: AAT/AAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65156990A>T Locations: - p.Asn327Lys (Ensembl:ENSMUST00000112420) - c.981T>A (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs232203351 | 341 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.65156950C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65156950C>T Locations: - p.Val341Ile (Ensembl:ENSMUST00000112420) - c.1021G>A (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs263629689 | 343 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.65156944C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65156944C>T Locations: - p.Ala343Thr (Ensembl:ENSMUST00000112420) - c.1027G>A (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs250376360 | 345 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.65156938G>C Codon: CTT/GTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65156938G>C Locations: - p.Leu345Val (Ensembl:ENSMUST00000112420) - c.1033C>G (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs226919936 | 356 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.65156905T>G Codon: ATG/CTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65156905T>G Locations: - p.Met356Leu (Ensembl:ENSMUST00000112420) - c.1066A>C (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs254108674 | 357 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.5) Somatic: No Accession: NC_000068.8:g.65156901A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65156901A>G Locations: - p.Ile357Thr (Ensembl:ENSMUST00000112420) - c.1070T>C (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs46033896 | 363 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.65156884C>G Codon: GTT/CTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65156884C>G Locations: - p.Val363Leu (Ensembl:ENSMUST00000112420) - c.1087G>C (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs219668127 | 367 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000068.8:g.65156871T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65156871T>C Locations: - p.Asn367Ser (Ensembl:ENSMUST00000112420) - c.1100A>G (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: | |||||||
rs228116907 | 416 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.68) Somatic: No Accession: NC_000068.8:g.65147230C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.65147230C>T Locations: - p.Val416Ile (Ensembl:ENSMUST00000112420) - c.1246G>A (Ensembl:ENSMUST00000112420) Source type: large scale study Cross-references: |