Preferred Label : HBA2 NP_000508.1:p.*143Qext*31;
NCIt synonyms : Hemoglobin Subunit Alpha Constant Spring Variant; Hemoglobin Alpha Chain *143Qext*31; NP_000508.1:p.Ter143GlnextTer31; Hemoglobin Subunit Alpha *143Qext*31; HBA Constant Spring Variant; HBA2 *143Glnext*31; Hb CS; HBA2 p.*143Glnext*31; HBA2 Constant Spring Variant; Hb CS Variant; HBA2 *143Qext*31; HBA2 p.*143Qext*31; NP_000508.1:p.*143Glnext*31; NP_000508.1:p.*143Qext*31; Hemoglobin Constant Spring Variant; NP_000508.1:p.Ter143Gln; Alpha-Globin *143Glnext*31; HBA2 NP_000508.1:p.Ter143GlnextTer31; Alpha-Globin *143Qext*31; Hb Constant Spring Alpha2 142, Stop Gln with Modified C-terminal Sequence; HBA2 Ter143GlnextTer31; Hemoglobin Alpha Chain *143Glnext*31; HBA2 p.Ter143GlnextTer31; HBA2 CS; Hemoglobin Subunit Alpha *143Glnext*31; Hemoglobin Alpha Constant Spring Variant; HBA CS; HBA2 NP_000508.1:p.*143Glnext*31;
NCIt definition : 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protein where the termination codon has been replaced by a C-terminal extension comprised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.;
NCIt note : 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.; 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).; 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.;
NCI Metathesaurus CUI : CL1773715;
Origin ID : C185541;
UMLS CUI : C5575718;
Automatic exact mappings (from CISMeF team)
- Semantic type(s)
- gene_product_variant_of_gene_product
