Molecular and Biochemical Data of the PK-Deficient Patients
| Patient . | Variant Name . | Mutation . | Amino Acid Substitution . | Activity . | Km PEP (mmol/L) . | Heat Stability4-150 . | Electrophoretic Mobility† . | nt 1705 . | Microsatellite ATT . | nt 1738 . |
|---|---|---|---|---|---|---|---|---|---|---|
| . | . | . | . | (IU/g Hb) . | . | . | . | . | . | . |
| MM | Milano | 1456T/1456T | Arg486-Trp/Arg486-Trp | 4.5 | 1.64 | 66 | 78 | C/C | 14/14 | T/T |
| AI | Soresina | 1456T/1552A | Arg486-Trp/Arg518-Ser | 4.1 | 1.28 | 62 | 86 | C/C | 14/15 | T/T |
| RGC | 1456T/? | Arg486-Trp/? | 3.6 | 4.32 | 53 | 75 | C/C | 14/14 | T/T | |
| MC | 1456T/? | Arg486-Trp/? | 2.8 | 0.84 | 83 | 128 | C/C | 14/14 | T/T | |
| SC | 1456T/823A | Arg486-Trp/Gly275-Arg | 3.0 | 0.35 | 25 | 100 | C/C | 15/19 | T/T | |
| PL | Parma | 1456T/993A | Arg486-Trp/Asp331-Glu | 5.8 | 1.59 | 94 | 100 | C/C | 14/16 | T/T |
| DA | Aprica | 1529A/1529A | Arg510-Gln/Arg510-Gln | 1.4 | 0.78 | 5 | 100 | C/C | 14/14 | T/T |
| ZM | 1529A/994A | Arg510-Gln/Gly332-Ser | 9.7 | 0.96 | 54 | 123 | C/C | 14/14 | T/T | |
| RG | 994A/994A | Gly332-Ser/Gly332-Ser | 3.5 | 0.54 | 29 | 100 | C/C | 17/17 | T/T | |
| IF | Sassari | 514C/514C | Glu172-Gln/Glu172-Gln | 3.1 | 1.32 | 66 | 75 | C/C | 14/14 | T/T |
| DM | IVS3(-2)c/721T | Splice site/Glu241-end | 5.5 | 1.09 | 13 | 88 | C/C | 14/14 | T/T | |
| CA | 1594T/993A | Arg532-Trp/Asp331-Glu | 2.9 | 1.17 | 50 | 120 | C/C | 14/14 | T/T | |
| PP | Mantova | 1168A/? | Asp390-Asn/? | 4.0 | 1.04 | 37 | 87 | C/C | 12/14 | T/T |
| FR | Torre Annunziata | 1269C/787T | Splice site/Gly263-Trp | 2.8 | 13.70 | 78 | 100 | C/C | 13/16 | T/T |
| SI | del 227-231/? | Frame shift/? | 8.3 | 0.17 | 77 | ND | A/A | 12/14 | C/C | |
| Reference value | 11.1-15.59‡ | 0.71-122‡ | 57-99‡ | 100 | ||||||
| Patient . | Variant Name . | Mutation . | Amino Acid Substitution . | Activity . | Km PEP (mmol/L) . | Heat Stability4-150 . | Electrophoretic Mobility† . | nt 1705 . | Microsatellite ATT . | nt 1738 . |
|---|---|---|---|---|---|---|---|---|---|---|
| . | . | . | . | (IU/g Hb) . | . | . | . | . | . | . |
| MM | Milano | 1456T/1456T | Arg486-Trp/Arg486-Trp | 4.5 | 1.64 | 66 | 78 | C/C | 14/14 | T/T |
| AI | Soresina | 1456T/1552A | Arg486-Trp/Arg518-Ser | 4.1 | 1.28 | 62 | 86 | C/C | 14/15 | T/T |
| RGC | 1456T/? | Arg486-Trp/? | 3.6 | 4.32 | 53 | 75 | C/C | 14/14 | T/T | |
| MC | 1456T/? | Arg486-Trp/? | 2.8 | 0.84 | 83 | 128 | C/C | 14/14 | T/T | |
| SC | 1456T/823A | Arg486-Trp/Gly275-Arg | 3.0 | 0.35 | 25 | 100 | C/C | 15/19 | T/T | |
| PL | Parma | 1456T/993A | Arg486-Trp/Asp331-Glu | 5.8 | 1.59 | 94 | 100 | C/C | 14/16 | T/T |
| DA | Aprica | 1529A/1529A | Arg510-Gln/Arg510-Gln | 1.4 | 0.78 | 5 | 100 | C/C | 14/14 | T/T |
| ZM | 1529A/994A | Arg510-Gln/Gly332-Ser | 9.7 | 0.96 | 54 | 123 | C/C | 14/14 | T/T | |
| RG | 994A/994A | Gly332-Ser/Gly332-Ser | 3.5 | 0.54 | 29 | 100 | C/C | 17/17 | T/T | |
| IF | Sassari | 514C/514C | Glu172-Gln/Glu172-Gln | 3.1 | 1.32 | 66 | 75 | C/C | 14/14 | T/T |
| DM | IVS3(-2)c/721T | Splice site/Glu241-end | 5.5 | 1.09 | 13 | 88 | C/C | 14/14 | T/T | |
| CA | 1594T/993A | Arg532-Trp/Asp331-Glu | 2.9 | 1.17 | 50 | 120 | C/C | 14/14 | T/T | |
| PP | Mantova | 1168A/? | Asp390-Asn/? | 4.0 | 1.04 | 37 | 87 | C/C | 12/14 | T/T |
| FR | Torre Annunziata | 1269C/787T | Splice site/Gly263-Trp | 2.8 | 13.70 | 78 | 100 | C/C | 13/16 | T/T |
| SI | del 227-231/? | Frame shift/? | 8.3 | 0.17 | 77 | ND | A/A | 12/14 | C/C | |
| Reference value | 11.1-15.59‡ | 0.71-122‡ | 57-99‡ | 100 | ||||||