Q80X37 · Q80X37_MOUSE
- ProteinCD44 antigen
- GeneCd44
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids580 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3540573764 | 23 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.57) Somatic: No Accession: NC_000068.8:g.102731623A>C Codon: CAT/CAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102731623A>C Locations: - p.His23Gln (Ensembl:ENSMUST00000060516) - c.69T>G (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs230327683 | 110 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.102691958A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102691958A>G Locations: - p.Ile110Thr (Ensembl:ENSMUST00000060516) - c.329T>C (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs245743184 | 112 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000068.8:g.102691952A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102691952A>G Locations: - p.Val112Ala (Ensembl:ENSMUST00000060516) - c.335T>C (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs213608134 | 112 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.45) Somatic: No Accession: NC_000068.8:g.102691953C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102691953C>T Locations: - p.Val112Ile (Ensembl:ENSMUST00000060516) - c.334G>A (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs265988143 | 174 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.102683513C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102683513C>T Locations: - p.Asp174Asn (Ensembl:ENSMUST00000060516) - c.520G>A (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs3413032536 | 175 | A>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.102683509G>T Codon: GCT/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102683509G>T Locations: - p.Ala175Asp (Ensembl:ENSMUST00000060516) - c.524C>A (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs243043053 | 196 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.102683447T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102683447T>C Locations: - p.Ser196Gly (Ensembl:ENSMUST00000060516) - c.586A>G (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs229002775 | 196 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000068.8:g.102683446C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102683446C>T Locations: - p.Ser196Asn (Ensembl:ENSMUST00000060516) - c.587G>A (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs27374288 | 231 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: NC_000068.8:g.102669803T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102669803T>A Locations: - p.Glu231Asp (Ensembl:ENSMUST00000060516) - c.693A>T (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs3391698065 | 232 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000068.8:g.102669801G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102669801G>A Locations: - p.Ala232Val (Ensembl:ENSMUST00000060516) - c.695C>T (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs212798991 | 234 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: NC_000068.8:g.102669796C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102669796C>T Locations: - p.Ala234Thr (Ensembl:ENSMUST00000060516) - c.700G>A (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs29864230 | 361 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000068.8:g.102662858G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102662858G>A Locations: - p.His361Tyr (Ensembl:ENSMUST00000060516) - c.1081C>T (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs256654377 | 362 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000068.8:g.102662855G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102662855G>A Locations: - p.Pro362Ser (Ensembl:ENSMUST00000060516) - c.1084C>T (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs3391894676 | 372 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.102661879T>A Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.102661879T>A Locations: - p.Lys372Ter (Ensembl:ENSMUST00000060516) - c.1114A>T (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs253243420 | 373 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.96) Somatic: No Accession: NC_000068.8:g.102661875C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102661875C>T Locations: - p.Ser373Asn (Ensembl:ENSMUST00000060516) - c.1118G>A (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs3391842645 | 373 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000068.8:g.102661876T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102661876T>G Locations: - p.Ser373Arg (Ensembl:ENSMUST00000060516) - c.1117A>C (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs264460803 | 374 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.102661873C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102661873C>A Locations: - p.Gly374Cys (Ensembl:ENSMUST00000060516) - c.1120G>T (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs264460803 | 374 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000068.8:g.102661873C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102661873C>T Locations: - p.Gly374Ser (Ensembl:ENSMUST00000060516) - c.1120G>A (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs3391979361 | 375 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000068.8:g.102661870C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102661870C>A Locations: - p.Ala375Ser (Ensembl:ENSMUST00000060516) - c.1123G>T (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs3391698036 | 376 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.102661867T>A Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.102661867T>A Locations: - p.Lys376Ter (Ensembl:ENSMUST00000060516) - c.1126A>T (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs3392003001 | 377 | D>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.102661863T>G Codon: GAT/GCT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102661863T>G Locations: - p.Asp377Ala (Ensembl:ENSMUST00000060516) - c.1130A>C (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs3391993677 | 379 | R>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.102661858T>A Codon: AGA/TGA Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.102661858T>A Locations: - p.Arg379Ter (Ensembl:ENSMUST00000060516) - c.1135A>T (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs3540617473 | 427 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.102661713G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102661713G>A Locations: - p.Ala427Val (Ensembl:ENSMUST00000060516) - c.1280C>T (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs3388573088 | 432 | V>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000068.8:g.102661698A>T Codon: GTT/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102661698A>T Locations: - p.Val432Asp (Ensembl:ENSMUST00000060516) - c.1295T>A (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs27374310 | 432 | V>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.62) Somatic: No Accession: NC_000068.8:g.102661699C>A Codon: GTT/TTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102661699C>A Locations: - p.Val432Phe (Ensembl:ENSMUST00000060516) - c.1294G>T (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs3388571199 | 436 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.83) Somatic: No Accession: NC_000068.8:g.102661687C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102661687C>T Locations: - p.Gly436Ser (Ensembl:ENSMUST00000060516) - c.1306G>A (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs3388571271 | 438 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.42) Somatic: No Accession: NC_000068.8:g.102661679T>A Codon: TTA/TTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102661679T>A Locations: - p.Leu438Phe (Ensembl:ENSMUST00000060516) - c.1314A>T (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs3388571207 | 443 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000068.8:g.102658946T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102658946T>C Locations: - p.Asp443Gly (Ensembl:ENSMUST00000060516) - c.1328A>G (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs260588655 | 449 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.102658927C>A Codon: AGG/AGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102658927C>A Locations: - p.Arg449Ser (Ensembl:ENSMUST00000060516) - c.1347G>T (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs243484977 | 451 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.54) Somatic: No Accession: NC_000068.8:g.102658923T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102658923T>C Locations: - p.Ser451Gly (Ensembl:ENSMUST00000060516) - c.1351A>G (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs212325005 | 453 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.102658916C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102658916C>T Locations: - p.Arg453His (Ensembl:ENSMUST00000060516) - c.1358G>A (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs244513955 | 459 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000068.8:g.102658899A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102658899A>G Locations: - p.Ser459Pro (Ensembl:ENSMUST00000060516) - c.1375T>C (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs233440070 | 467 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.102654665G>C Codon: GCG/GGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102654665G>C Locations: - p.Ala467Gly (Ensembl:ENSMUST00000060516) - c.1400C>G (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs3411829587 | 476 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000068.8:g.102654639T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102654639T>C Locations: - p.Thr476Ala (Ensembl:ENSMUST00000060516) - c.1426A>G (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs3388571188 | 522 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.102644655G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102644655G>C Locations: - p.Ile522Met (Ensembl:ENSMUST00000060516) - c.1566C>G (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs3388577833 | 525 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.102644647C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102644647C>T Locations: - p.Gly525Asp (Ensembl:ENSMUST00000060516) - c.1574G>A (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs3388562671 | 525 | G>E | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.102644647_102644648insTCCACACTACCTCAACCATCACT Codon: GGC/GAGTGATGGTTGAGGTAGTGTGGAGC Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.102644647_102644648insTCCACACTACCTCAACCATCACT Locations: - p.Gly525GlufsTer2 (Ensembl:ENSMUST00000060516) - c.1573_1574insAGTGATGGTTGAGGTAGTGTGGA (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs3413000422 | 528 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.102644639T>C Codon: ACG/GCG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102644639T>C Locations: - p.Thr528Ala (Ensembl:ENSMUST00000060516) - c.1582A>G (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs3388572581 | 548 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.102644579C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102644579C>T Locations: - p.Val548Met (Ensembl:ENSMUST00000060516) - c.1642G>A (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs3388571529 | 558 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000068.8:g.102644548G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102644548G>T Locations: - p.Thr558Asn (Ensembl:ENSMUST00000060516) - c.1673C>A (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: | |||||||
rs3391974984 | 578 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000068.8:g.102644487A>C Codon: ATT/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102644487A>C Locations: - p.Ile578Met (Ensembl:ENSMUST00000060516) - c.1734T>G (Ensembl:ENSMUST00000060516) Source type: large scale study Cross-references: |