##gff-version 3 Q02161 UniProtKB Initiator methionine 1 1 . . . Note=Removed;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:3131772,ECO:0000269|PubMed:3135863,ECO:0000269|PubMed:3146980;Dbxref=PMID:3131772,PMID:3135863,PMID:3146980 Q02161 UniProtKB Chain 2 417 . . . ID=PRO_0000168190;Note=Blood group Rh(D) polypeptide Q02161 UniProtKB Transmembrane 12 32 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q02161 UniProtKB Transmembrane 44 64 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q02161 UniProtKB Transmembrane 77 97 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q02161 UniProtKB Transmembrane 107 127 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q02161 UniProtKB Transmembrane 130 150 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q02161 UniProtKB Transmembrane 167 187 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q02161 UniProtKB Transmembrane 203 223 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q02161 UniProtKB Transmembrane 238 258 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q02161 UniProtKB Transmembrane 287 307 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q02161 UniProtKB Transmembrane 334 354 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q02161 UniProtKB Transmembrane 358 378 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q02161 UniProtKB Alternative sequence 314 409 . . . ID=VSP_005706;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8180407;Dbxref=PMID:8180407 Q02161 UniProtKB Alternative sequence 314 378 . . . ID=VSP_047795;Note=In isoform 6. GCCNRVLGIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIVIAL->DWLPGPPQHWGTQLGHRDSSHVWSPDSFLIWLLDFKQKHPRKTRPVQKQDNFLSLLPAFVREKRS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16510313;Dbxref=PMID:16510313 Q02161 UniProtKB Alternative sequence 316 316 . . . ID=VSP_005707;Note=In isoform 3. C->S;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8080999;Dbxref=PMID:8080999 Q02161 UniProtKB Alternative sequence 317 417 . . . ID=VSP_005708;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8080999;Dbxref=PMID:8080999 Q02161 UniProtKB Alternative sequence 358 417 . . . ID=VSP_047796;Note=In isoform 5. MIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF->IFLIWLLDFKQKHPRKTRPVQKQDNFLSLLPAFVREKRS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16510313;Dbxref=PMID:16510313 Q02161 UniProtKB Alternative sequence 359 417 . . . ID=VSP_047797;Note=In isoform 4. IGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF->SLGWNLAVKMAEAGDEELMRLDVSQRNHGGAAVPTGSWMPSTETTIAPNYRDHISVVSSFGCWILSKSIQEKQGLFKNKTTSSHCCLHLYVRNAHDSKVSNVRAGTGVRENGVESFLCHSLRRISPFIMHCRIQQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16510313;Dbxref=PMID:16510313 Q02161 UniProtKB Alternative sequence 379 417 . . . ID=VSP_047798;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16510313;Dbxref=PMID:16510313 Q02161 UniProtKB Natural variant 3 3 . . . ID=VAR_086023;Note=May be associated with low RHD expression%2C resulting in a weak D phenotype. S->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9864185;Dbxref=PMID:9864185 Q02161 UniProtKB Natural variant 10 10 . . . ID=VAR_086024;Note=May be associated with low RHD expression%2C resulting in a weak D phenotype. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9864185;Dbxref=PMID:9864185 Q02161 UniProtKB Natural variant 16 16 . . . ID=VAR_034455;Note=W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7606008;Dbxref=dbSNP:rs772865539,PMID:7606008 Q02161 UniProtKB Natural variant 103 103 . . . ID=VAR_035615;Note=In a breast cancer sample%3B somatic mutation. S->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 Q02161 UniProtKB Natural variant 110 110 . . . ID=VAR_006919;Note=In Tar antigen. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7741145;Dbxref=dbSNP:rs121912762,PMID:7741145 Q02161 UniProtKB Natural variant 149 149 . . . ID=VAR_086025;Note=May be associated with low RHD expression%2C resulting in a weak D phenotype. A->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9864185;Dbxref=PMID:9864185 Q02161 UniProtKB Natural variant 182 182 . . . ID=VAR_086026;Note=May be associated with low RHD expression%2C resulting in a weak D phenotype. S->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7916743,ECO:0000269|PubMed:9864185;Dbxref=PMID:7916743,PMID:9864185 Q02161 UniProtKB Natural variant 193 193 . . . ID=VAR_034456;Note=E->K;Dbxref=dbSNP:rs1053352 Q02161 UniProtKB Natural variant 198 198 . . . ID=VAR_086027;Note=May be associated with low RHD expression%2C resulting in a weak D phenotype. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9864185;Dbxref=PMID:9864185 Q02161 UniProtKB Natural variant 201 201 . . . ID=VAR_034457;Note=May be associated with low RHD expression%2C resulting in a weak D phenotype. T->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9864185;Dbxref=dbSNP:rs1053355,PMID:9864185 Q02161 UniProtKB Natural variant 218 218 . . . ID=VAR_006920;Note=M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1438298;Dbxref=dbSNP:rs141540728,PMID:1438298 Q02161 UniProtKB Natural variant 220 220 . . . ID=VAR_086028;Note=May be associated with low RHD expression%2C resulting in a weak D phenotype. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9864185;Dbxref=PMID:9864185 Q02161 UniProtKB Natural variant 223 223 . . . ID=VAR_013304;Note=Found in RhDVa(FK) and RhDVa(TT)%3B may be associated with low RHD expression%2C resulting in a weak D phenotype. F->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:9864185,ECO:0000269|Ref.9;Dbxref=dbSNP:rs1053356,PMID:9864185 Q02161 UniProtKB Natural variant 233 233 . . . ID=VAR_013305;Note=Found in RhDVa(FK)%2C RhDVa(TO)%2C RhDVa(TT) and RhDYo. E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.9;Dbxref=dbSNP:rs1053359 Q02161 UniProtKB Natural variant 238 238 . . . ID=VAR_013306;Note=Found in RhDVa(TO) and RhDVa(TT). V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.9;Dbxref=dbSNP:rs1053360 Q02161 UniProtKB Natural variant 245 245 . . . ID=VAR_013307;Note=Found in RhDVa(TT). V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.9;Dbxref=dbSNP:rs150073306 Q02161 UniProtKB Natural variant 263 263 . . . ID=VAR_047996;Note=G->R;Dbxref=dbSNP:rs3118454 Q02161 UniProtKB Natural variant 270 270 . . . ID=VAR_086029;Note=May be associated with low RHD expression%2C resulting in a weak D phenotype. V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9864185;Dbxref=PMID:9864185 Q02161 UniProtKB Natural variant 276 276 . . . ID=VAR_086030;Note=May be associated with low RHD expression%2C resulting in a weak D phenotype. A->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9864185;Dbxref=PMID:9864185 Q02161 UniProtKB Natural variant 277 277 . . . ID=VAR_086031;Note=May be associated with low RHD expression%2C resulting in a weak D phenotype. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9864185;Dbxref=PMID:9864185 Q02161 UniProtKB Natural variant 282 282 . . . ID=VAR_086032;Note=May be associated with low RHD expression%2C resulting in a weak D phenotype. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9864185;Dbxref=PMID:9864185 Q02161 UniProtKB Natural variant 283 283 . . . ID=VAR_086033;Note=May be associated with moderate decrease in RHD expression%2C resulting in DHMi phenotype. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9864185;Dbxref=PMID:9864185 Q02161 UniProtKB Natural variant 294 294 . . . ID=VAR_086034;Note=May be associated with low RHD expression%2C resulting in a weak D phenotype. A->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9864185;Dbxref=PMID:9864185 Q02161 UniProtKB Natural variant 295 295 . . . ID=VAR_086035;Note=May be associated with low RHD expression%2C resulting in a weak D phenotype. M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9864185;Dbxref=PMID:9864185 Q02161 UniProtKB Natural variant 306 306 . . . ID=VAR_047997;Note=V->I;Dbxref=dbSNP:rs590813 Q02161 UniProtKB Natural variant 307 307 . . . ID=VAR_086036;Note=May be associated with low RHD expression%2C resulting in a weak D phenotype. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9864185;Dbxref=PMID:9864185 Q02161 UniProtKB Natural variant 311 311 . . . ID=VAR_047998;Note=Y->C;Dbxref=dbSNP:rs590787 Q02161 UniProtKB Natural variant 339 339 . . . ID=VAR_086037;Note=May be associated with low RHD expression%2C resulting in a weak D phenotype. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9864185;Dbxref=PMID:9864185 Q02161 UniProtKB Natural variant 385 385 . . . ID=VAR_086038;Note=May be associated with low RHD expression%2C resulting in a weak D phenotype. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9864185;Dbxref=PMID:9864185 Q02161 UniProtKB Natural variant 393 393 . . . ID=VAR_086039;Note=May be associated with low RHD expression%2C resulting in a weak D phenotype. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9864185;Dbxref=PMID:9864185 Q02161 UniProtKB Sequence conflict 39 39 . . . Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q02161 UniProtKB Sequence conflict 103 103 . . . Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q02161 UniProtKB Sequence conflict 127 127 . . . Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q02161 UniProtKB Sequence conflict 174 174 . . . Note=V->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q02161 UniProtKB Sequence conflict 314 314 . . . Note=G->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q02161 UniProtKB Sequence conflict 323 323 . . . Note=P->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q02161 UniProtKB Sequence conflict 379 379 . . . Note=M->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q02161 UniProtKB Sequence conflict 398 398 . . . Note=E->V;Ontology_term=ECO:0000305;evidence=ECO:0000305