Sequence variants detected in the EKLF gene in erythroid cells of the In(Lu) phenotype
| Variant type . | Sample name . | DNA change* . | Deduced protein change† . | dbSNP rs2072597 . | DbSNP rs2072596 . |
|---|---|---|---|---|---|
| 1 | InLu24 | [=]+[-124T>C]‡ | [=]+[?] | T/C | T/T |
| 2 | InLu10 | [=]+[380T>A] | [=]+[Leu127X] | T/C | T/T |
| 3 | InLu17 | [=]+[569delC] | [=]+[Pro190LeufsX47] | C/C | T/T |
| InLu18 | C/C | T/T | |||
| InLu19 | T/C | T/T | |||
| InLu20 | T/C | T/T | |||
| InLu21 | C/C | T/T | |||
| InLu22 | T/C | T/T | |||
| 4 | InLu6 | [=]+[874A>T] | [=]+[Lys292X] | T/T | T/T |
| 5 | InLu16 | [=]+[895C>T] | [=]+[His299Tyr] | T/C | T/T |
| 6 | InLu1 | [=]+[954dupG] | [=]+[Arg319GlufsX34] | T/T | T/T |
| InLu3 | T/T | T/T | |||
| InLu4 | T/T | T/T | |||
| InLu5 | T/T | T/T | |||
| InLu7 | T/C | T/T | |||
| InLu13 | T/T | T/T | |||
| InLu14 | T/C | T/T | |||
| InLu15 | T/C | T/T | |||
| 7 | InLu11 | [=]+[983G>T] | [=]+[Arg328Leu] | T/T | T/T |
| 8 | InLu12 | [=]+[983G>A] | [=]+[Arg328His] | C/C | T/C |
| 9 | InLu2 | [=]+[991C>G] | [=]+[Arg331Gly] | T/C | T/T |
| 10 | InLu8 | [=]+[?] | [=]+[?] | T/C | T/C |
| InLu9 | T/C | T/T | |||
| InLu23 | T/T | T/T |
| Variant type . | Sample name . | DNA change* . | Deduced protein change† . | dbSNP rs2072597 . | DbSNP rs2072596 . |
|---|---|---|---|---|---|
| 1 | InLu24 | [=]+[-124T>C]‡ | [=]+[?] | T/C | T/T |
| 2 | InLu10 | [=]+[380T>A] | [=]+[Leu127X] | T/C | T/T |
| 3 | InLu17 | [=]+[569delC] | [=]+[Pro190LeufsX47] | C/C | T/T |
| InLu18 | C/C | T/T | |||
| InLu19 | T/C | T/T | |||
| InLu20 | T/C | T/T | |||
| InLu21 | C/C | T/T | |||
| InLu22 | T/C | T/T | |||
| 4 | InLu6 | [=]+[874A>T] | [=]+[Lys292X] | T/T | T/T |
| 5 | InLu16 | [=]+[895C>T] | [=]+[His299Tyr] | T/C | T/T |
| 6 | InLu1 | [=]+[954dupG] | [=]+[Arg319GlufsX34] | T/T | T/T |
| InLu3 | T/T | T/T | |||
| InLu4 | T/T | T/T | |||
| InLu5 | T/T | T/T | |||
| InLu7 | T/C | T/T | |||
| InLu13 | T/T | T/T | |||
| InLu14 | T/C | T/T | |||
| InLu15 | T/C | T/T | |||
| 7 | InLu11 | [=]+[983G>T] | [=]+[Arg328Leu] | T/T | T/T |
| 8 | InLu12 | [=]+[983G>A] | [=]+[Arg328His] | C/C | T/C |
| 9 | InLu2 | [=]+[991C>G] | [=]+[Arg331Gly] | T/C | T/T |
| 10 | InLu8 | [=]+[?] | [=]+[?] | T/C | T/C |
| InLu9 | T/C | T/T | |||
| InLu23 | T/T | T/T |
DNA changes are numbered relative to the translation initiation codon (where A is +1) in the reference cDNA sequence (Entrez Gene Accession no. NM_006563.2). [=] indicates the presence of the wild-type allele; [?] indicates an unknown change.
Deduced protein changes are numbered relative to the translation initiator (where Met is +1) in the reference protein sequence (Entrez Protein Accession no. NP_006554.1). [=] indicates presence of wild-type protein; [?] indicates unknown effect.
Promoter sequence can be obtained from the reference gDNA sequence (Entrez Gene Accession no. NT_086897.1: complement of region 4090501-4093981).