Table 5 Frameshift CALR variant classification using the alpha helix propensity model (AGADIR score) in patients with non-type 1/2 mutant CALR variants. Subsequently new amino acids are shown in bold, common 3′ end are shown in italics.
No. of patient (n = 5) | CALR variant | AGADIR helix propensity score (T = 25 °C) | Nucleotide Change | Amino Acid Sequence | Amino Acid Change |
|---|---|---|---|---|---|
1 | Type 2-like | 32.05 | c.1127_1145del19 | p.(Arg376Glnfs*48) | AAEKQMKDKQDEEQRLKEEEEDK KQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREACLQGWTEA |
2 | Type 2-like | 37.24 | c.1154_1154delAinsGTTGTC | p.(Arg376Glnfs*48) | AAEKQMKDKQDEEQRLKEEEEDKKRKEEEEAEDSCRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREACLQGWTEA |
3 | Type 2-like | 46.58 | c.1154_1154delAinsTTTATC | p.(Lys385Ilefs*47) | AAEKQMKDKQDEEQRLKEEEEDKKRKEEEEAEDIYRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREACLQGWTEA |
4 | Type 2-like | 31.05 | c.1132_1153del22 | p.(Glu378Argfs*45) | AAEKQMKDKQDEEQRLKEEEEDKKRKRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREACLQGWTEA |
5 | Type 2-like | 32.43 | c.1114_1144del31 | p.(Glu372Glnfs*48) | AAEKQMKDKQDEEQRLKEEEQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREACLQGWTEA |
Type 1 | 17.50 | c.1092_1143del52 | p.(Leu367Thrfs*46) | AAEKQMKDKQDEEQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREACLQGWTEA | |
Type 2 | 40.02 | c.1154_1155insTTGTC | p.(Lys385Asnfs*47) | AAEKQMKDKQDEEQRLKEEEEDKKRKEEEEAEDNCRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREACLQGWTEA | |
Wild-type | 33.62 | Wild-type | Wild-type | AAEKQMKDKQDEEQRLKEEEEDKKRKEEEEAEDKEDDEDKDEDEEDEEDKEEDEEEDVPGQAKDEL |
