Exon | Exonic fragment | cDNA sequencing | Mutation/sequence alteration | Nucleotide alteration | Protein alteration | Patients/origins‡(second allele in brackets) | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SS2-150 | HD† | ||||||||||||
Ex 1 | − | + | M1L | ATG→TTG | Met→Leu | B9 | DE | het | (C277F) | ||||
+ | + | 274ins4 | dupl 271-274 | fs, 132 altered aa, term | B25 | DE | het | (R565Q) | |||||
+ | + | 338ins24 | dupl 315-338 | dupl aa 72-79 | B13 | TR | het | (R565Q) | |||||
B18 | IR | hom | |||||||||||
− | − | + | G79C | GGC→TGC | Gly→Cys | B20 | TK | hom | |||||
− | − | + | R100H | CAC→CGC | Arg→His | B19 | IR | hom | |||||
Ex 2 | + | + | Y140C | TAC→TGC | Tyr→Cys | B1 | DE | het | (NI) | ||||
B5 | CZ | het | (W404X) | ||||||||||
B11 | IT | het | (NI) | ||||||||||
+ | + | F142del | TTC→ – | Deletion of one aa | B2 | DE | het | (NI) | |||||
Intron 2 | + | (+) | pol: IVS2+50G→C | G→C | None | Frequencies: G:0.33, C:0.67 | |||||||
Ex 3 | + | − | R203X | CGA→TGA | Term | B10 | DE | het | (NI) | ||||
Ex 4 | − | − | + | P243L | CCT→CTT | Pro→Leu | B21 | TR | hom | ||||
Ex 5 | + | − | C277F | TGC→TTC | Cys→Phe | B9 | DE | het | (M1L) | ||||
+ | − | L280P | CTT→CCT | Leu→Pro | B6 | PL | het | (NI) | |||||
+ | −(NE) | G292R | GGG→AGG | Gly→Arg | B14 | IR | hom | ||||||
+ | −(NE) | R297X | CGA→TGA | Term | B23 | DE | hom | ||||||
− | + | 1006delAG | GAG→G– | fs, 14 altered aa, term | B4 | DE | het | (NI) | |||||
Ex 6 | − | + | W404X | TGG→TAG | Term | B5 | CZ | het | (Y140C) | ||||
+ | −(NE) | E452L | GAA→AAA | Glu→Leu | B7 | TR | hom | ||||||
− | − | + | R482W | CGG→TGG | Arg→Trp | B16 | TR | hom | |||||
+ | −(NE) | L561R | CTG→CGG | Leu→Arg | B17 | BG | hom | ||||||
+ | + | R565Q | CGG→CAG | Arg→Gln | B3 | DE | het | (NI) | |||||
B13 | TR | het | (338ins24) | ||||||||||
B25 | DE | het | (274ins4) | ||||||||||
− | − | + | R674H | CGC→CAC | Arg→His | B15 | TR | hom | |||||
+ | − | E705L | GAG→AAG | Glu→Leu | B8 | PL | het | (NI) | |||||
+ | + | pol: G737R | GGC→CGC | Gly→Arg | B1 | DE | het | ||||||
B3 | DE | het | |||||||||||
B13 | TR | het | |||||||||||
B25 | DE | het |
↵2-150 SS: mobility shift of single strand(s), †HD: heteroduplex formation, +: visible, −: not visible, NE: not expected (patient homozygous); ‡BG: Bulgaria, CZ: Czech Republic, DE: Germany, IT: Italy, IR: Iran, PL: Poland, TR: Turkey; aa: amino acids, del: deletion, dupl: duplicated, fs: frameshift, het: heterozygous, hom: homozygous, ins: insertion, NI: not identified, pol: polymorphism, term: termination. Numbering of amino acids and nucleotides is according to ref 5.