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- NCIT_C185541 IAO_0000115 "A change in the termination codon at position 143 in the hemoglobin subunit alpha protein where the termination codon has been replaced by a C-terminal extension comprised of glutamine followed by 29 additional amino acids and ending at a new stop codon at position 31." @default.
- NCIT_C185541 NCIT_NHC0 "C185541" @default.
- NCIT_C185541 NCIT_P106 "Cell or Molecular Dysfunction" @default.
- NCIT_C185541 NCIT_P108 "HBA2 NP_000508.1:p.*143Qext*31" @default.
- NCIT_C185541 NCIT_P208 "CL1773715" @default.
- NCIT_C185541 NCIT_P98 "Hemoglobin subunit alpha (HBA) protein is encoded by the HBA1 and HBA2 genes. This HBA protein variant has been observed to be encoded following mutation of the HBA2 gene." @default.
- NCIT_C185541 NCIT_P98 "In the hemoglobin subunit alpha (HBA) Constant Spring (Hb CS) variant the stop codon is replaced by the amino acid sequence Gln-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala-Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro-Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-Ter (https://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=703)." @default.
- NCIT_C185541 NCIT_P98 "The hemoglobin subunit alpha termination codon is often reported in the literature as being at codon 142, but that numbering does not include the initiator methionine, which is post-translationally removed during hemoglobin synthesis." @default.
- NCIT_C185541 NCIT_R179 NCIT_C185538 @default.
- NCIT_C185541 NCIT_R179 NCIT_C185540 @default.
- NCIT_C185541 NCIT_R179 NCIT_C36391 @default.
- NCIT_C185541 NCIT_R179 NCIT_C3910 @default.
- NCIT_C185541 NCIT_R179 NCIT_C97926 @default.
- NCIT_C185541 NCIT_R179 NCIT_C97927 @default.
- NCIT_C185541 NCIT_R182 NCIT_C16386 @default.
- NCIT_C185541 NCIT_R182 NCIT_C17021 @default.
- NCIT_C185541 NCIT_R182 NCIT_C17728 @default.
- NCIT_C185541 NCIT_R182 NCIT_C20027 @default.
- NCIT_C185541 NCIT_R182 NCIT_C26548 @default.
- NCIT_C185541 NCIT_R182 NCIT_C75434 @default.
- NCIT_C185541 normalizedInformationContent "95.413332725061409" @default.
- NCIT_C185541 referenceCount "2" @default.
- NCIT_C185541 hasExactSynonym "Alpha-Globin *143Glnext*31" @default.
- NCIT_C185541 hasExactSynonym "Alpha-Globin *143Qext*31" @default.
- NCIT_C185541 hasExactSynonym "HBA CS" @default.
- NCIT_C185541 hasExactSynonym "HBA Constant Spring Variant" @default.
- NCIT_C185541 hasExactSynonym "HBA2 *143Glnext*31" @default.
- NCIT_C185541 hasExactSynonym "HBA2 *143Qext*31" @default.
- NCIT_C185541 hasExactSynonym "HBA2 CS" @default.
- NCIT_C185541 hasExactSynonym "HBA2 Constant Spring Variant" @default.
- NCIT_C185541 hasExactSynonym "HBA2 NP_000508.1:p.*143Glnext*31" @default.
- NCIT_C185541 hasExactSynonym "HBA2 NP_000508.1:p.*143Qext*31" @default.
- NCIT_C185541 hasExactSynonym "HBA2 NP_000508.1:p.Ter143GlnextTer31" @default.
- NCIT_C185541 hasExactSynonym "HBA2 Ter143GlnextTer31" @default.
- NCIT_C185541 hasExactSynonym "HBA2 p.*143Glnext*31" @default.
- NCIT_C185541 hasExactSynonym "HBA2 p.*143Qext*31" @default.
- NCIT_C185541 hasExactSynonym "HBA2 p.Ter143GlnextTer31" @default.
- NCIT_C185541 hasExactSynonym "Hb CS Variant" @default.
- NCIT_C185541 hasExactSynonym "Hb CS" @default.
- NCIT_C185541 hasExactSynonym "Hb Constant Spring Alpha2 142, Stop>Gln with Modified C-terminal Sequence" @default.
- NCIT_C185541 hasExactSynonym "Hemoglobin Alpha Chain *143Glnext*31" @default.
- NCIT_C185541 hasExactSynonym "Hemoglobin Alpha Chain *143Qext*31" @default.
- NCIT_C185541 hasExactSynonym "Hemoglobin Alpha Constant Spring Variant" @default.
- NCIT_C185541 hasExactSynonym "Hemoglobin Constant Spring Variant" @default.
- NCIT_C185541 hasExactSynonym "Hemoglobin Subunit Alpha *143Glnext*31" @default.
- NCIT_C185541 hasExactSynonym "Hemoglobin Subunit Alpha *143Qext*31" @default.
- NCIT_C185541 hasExactSynonym "Hemoglobin Subunit Alpha Constant Spring Variant" @default.
- NCIT_C185541 hasExactSynonym "NP_000508.1:p.*143Glnext*31" @default.
- NCIT_C185541 hasExactSynonym "NP_000508.1:p.*143Qext*31" @default.
- NCIT_C185541 hasExactSynonym "NP_000508.1:p.Ter143Gln" @default.
- NCIT_C185541 hasExactSynonym "NP_000508.1:p.Ter143GlnextTer31" @default.
- NCIT_C185541 type Class @default.
- NCIT_C185541 isDefinedBy ncit.owl @default.
- NCIT_C185541 label "HBA2 NP_000508.1:p.*143Qext*31" @default.
- NCIT_C185541 subClassOf B5bf9c17945dee90a3cf09f200a5a0a21 @default.
- NCIT_C185541 subClassOf B70ed08bd383ff6f4beadc7f71f94ddcf @default.
- NCIT_C185541 subClassOf NCIT_C185539 @default.
- NCIT_C185541 subClassOf NCIT_C185541 @default.
- NCIT_C185541 subClassOf NCIT_C3910 @default.
- NCIT_C185541 subClassOf NCIT_C97926 @default.
- NCIT_C185541 subClassOf NCIT_C97928 @default.