Nucleotide substitution | Nucleotide location (AY188947/AY188948) | Amino acid (PGC-1β1a and -1b) | Nucleotide location (AY188949/AY188950) | Amino acid (PGC-1β2a and -2b) | Intronic/UTR location | No. of patients | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
*Variant identified only in PGC-1β isoforms 2a and 2b; §variant identified only in isoforms 1a and 2a. | ||||||||||||
C→T* | −97 (5′) | 23 | ||||||||||
CTT→CTC | 168 | Leu42Leu | 343 | Leu21Leu | 20 | |||||||
C→T | IVS2-8 | 3 | ||||||||||
C→T | IVS2-4 | 4 | ||||||||||
TTC→TTT | 381 | Phe113Phe | 556 | Phe92Phe | 20 | |||||||
CCC→CCG | 450 | Pro136Pro | 625 | Pro115Pro | 1 | |||||||
A→G | IVS3+23 | 1 | ||||||||||
G→A | IVS4+43 | 1 | ||||||||||
GCT→CCT | 649 | Ala203Pro | 824 | Ala182Pro | 8 | |||||||
CGG→CAG | 836 | Arg265Gln | 1011 | Arg244Gln | 5 | |||||||
GTT→ATT | 877 | Val279Ile | 1052 | Val258Ile | 8 | |||||||
CGC→AGC | 916 | Arg292Ser | 1091 | Arg271Ser | 3 | |||||||
CGG→CGT | 1020 | Arg326Arg | 1195 | Arg305Arg | 2 | |||||||
CCG→CCA | 1206 | Pro388Pro | 1381 | Pro367Pro | 21 | |||||||
G→A | IVS6+24 | 8 | ||||||||||
T→G | IVS6+73 | 23 | ||||||||||
GGT→GGC | 2280 | Gly746Gly | 2455 | Gly725Gly | 3 | |||||||
GCC→GCT | 2328 | Ala762Ala | 2503 | Ala741Ala | 3 | |||||||
C→G | IVS9-31 | 3 | ||||||||||
C→T§ | IVS11-29 | 2 |