http://purl.uniprot.org/uniprot/Q9BWX5 | http://purl.uniprot.org/annotation/VAR_073312 | "138"xsd:int | "In CHTD5; decreased transcriptional activity."xsd:string |
http://purl.uniprot.org/uniprot/Q9BWX5 | http://purl.uniprot.org/annotation/VAR_073312 | "138"xsd:int | "In CHTD5; decreased transcriptional activity."xsd:string |
http://purl.uniprot.org/uniprot/P28472 | http://purl.uniprot.org/annotation/VAR_077078 | "182"xsd:int | "In DEE43."xsd:string |
http://purl.uniprot.org/uniprot/P28472 | http://purl.uniprot.org/annotation/VAR_077078 | "182"xsd:int | "In DEE43."xsd:string |
http://purl.uniprot.org/uniprot/P22557 | http://purl.uniprot.org/annotation/VAR_066244 | "586"xsd:int | "Rare variant found in a congenital erythropoietic porphyria patient that also carries UROS mutations R-73 and Q-248; increased enzyme activity."xsd:string |
http://purl.uniprot.org/uniprot/P22557 | http://purl.uniprot.org/annotation/VAR_066244 | "586"xsd:int | "Rare variant found in a congenital erythropoietic porphyria patient that also carries UROS mutations R-73 and Q-248; increased enzyme activity."xsd:string |
http://purl.uniprot.org/uniprot/P68871 | http://purl.uniprot.org/annotation/VAR_002919 | "36"xsd:int | "In Philly; O(2) affinity up; unstable."xsd:string |
http://purl.uniprot.org/uniprot/P68871 | http://purl.uniprot.org/annotation/VAR_002919 | "36"xsd:int | "In Philly; O(2) affinity up; unstable."xsd:string |
http://purl.uniprot.org/uniprot/P04439 | http://purl.uniprot.org/annotation/VAR_082353 | "123"xsd:int | "In allele A*23:01, allele 24:02."xsd:string |
http://purl.uniprot.org/uniprot/P04439 | http://purl.uniprot.org/annotation/VAR_082353 | "123"xsd:int | "In allele A*23:01, allele 24:02."xsd:string |
http://purl.uniprot.org/uniprot/P01889 | http://purl.uniprot.org/annotation/VAR_082510 | "91"xsd:int | "In allele B*08:01, allele B*35:01, allele B*51:01, allele B*53:01, allele B*59:01 and allele B*78:01."xsd:string |
http://purl.uniprot.org/uniprot/P01889 | http://purl.uniprot.org/annotation/VAR_082510 | "91"xsd:int | "In allele B*08:01, allele B*35:01, allele B*51:01, allele B*53:01, allele B*59:01 and allele B*78:01."xsd:string |
http://purl.uniprot.org/uniprot/P01889 | http://purl.uniprot.org/annotation/VAR_082538 | "123"xsd:int | "In allele B*47:01 and allele B*82:01."xsd:string |
http://purl.uniprot.org/uniprot/P01889 | http://purl.uniprot.org/annotation/VAR_082538 | "123"xsd:int | "In allele B*47:01 and allele B*82:01."xsd:string |
http://purl.uniprot.org/uniprot/P01889 | http://purl.uniprot.org/annotation/VAR_082546 | "140"xsd:int | "In allele B*14:01, allele B*37:01, allele B*38:01, allele B*39:02, allele B*67:01 and allele B*73:01."xsd:string |
http://purl.uniprot.org/uniprot/P01889 | http://purl.uniprot.org/annotation/VAR_082546 | "140"xsd:int | "In allele B*14:01, allele B*37:01, allele B*38:01, allele B*39:02, allele B*67:01 and allele B*73:01."xsd:string |
http://purl.uniprot.org/uniprot/Q3KP66 | http://purl.uniprot.org/annotation/VAR_080249 | "333"xsd:int | "In IBD29; decreases protein stability."xsd:string |
http://purl.uniprot.org/uniprot/Q3KP66 | http://purl.uniprot.org/annotation/VAR_080249 | "333"xsd:int | "In IBD29; decreases protein stability."xsd:string |
http://purl.uniprot.org/uniprot/P01877 | http://purl.uniprot.org/annotation/VAR_003881 | "279"xsd:int | "In IMGT allele IGHA2*01."xsd:string |
http://purl.uniprot.org/uniprot/P01877 | http://purl.uniprot.org/annotation/VAR_003881 | "279"xsd:int | "In IMGT allele IGHA2*01."xsd:string |
http://purl.uniprot.org/uniprot/P01860 | http://purl.uniprot.org/annotation/VAR_003892 | "226"xsd:int | "In variant ZUC and WIS."xsd:string |
http://purl.uniprot.org/uniprot/P01860 | http://purl.uniprot.org/annotation/VAR_003892 | "226"xsd:int | "In variant ZUC and WIS."xsd:string |
http://purl.uniprot.org/uniprot/Q06136 | http://purl.uniprot.org/annotation/VAR_079187 | "186"xsd:int | "In EKVP4."xsd:string |
http://purl.uniprot.org/uniprot/Q06136 | http://purl.uniprot.org/annotation/VAR_079187 | "186"xsd:int | "In EKVP4."xsd:string |
http://purl.uniprot.org/uniprot/P07948 | http://purl.uniprot.org/annotation/VAR_088621 | "508"xsd:int | "In SAIDV; pathogenic; increased kinase activity due to loss of autoinhibition resulting in constitutive activation; loss of Y-508 phosphorylation; increased Y-397 phosphorylation."xsd:string |