Case Report
Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene
Table 1
Nucleotide and amino acid sequences of
-SGC gene.
| 1 1 | ATG Met | GCT Ala | GAG Glu | ACA Thr | CTC Leu | TTC Phe | TGG Trp | ACT Thr | CCT Pro | CTC Leu | CTC Leu | GTG Val | GTT Val | CTC Leu | CTG Leu |
| 46 16 | GCA Ala | GGG Gly | CTG Leu | GGG Gly | GAC Asp | ACC Thr | GAG Glu | GCC Ala | CAG Gln | CAG Gln | ACC Thr | ACG Thr | CTA Leu | CAC His | CCA Pro# |
| 91 31 | CTT Leu# | GTG Val | GGC Gly | CGT Arg# | GTC Val | TTT Phe | GTG Val | CAC His | ACC Thr | TTG Leu | GAC Asp | CAT His | GAG Glu | ACG Thr | TTT Phe |
| 136 46 | CTG Leu | AGC Ser | CTT Leu | CCT Pro | GAG Glu | CAT His | GTC Val | GCT Ala# | GTC Val | CCA Pro | CCC Pro | GCT Ala | GTC Val | CAC His | ATC Ile |
| 181 61 | ACC Thr | TAC Tyr# | CAC His | GCC Ala | CAC His | CTC Leu | CAG Gln | GGA Gly# | CAC His | CCA Pro | GAC Asp | CTG Leu | CCC Pro | CGG Arg# | TGG Trp |
| 226 76 | CTC Leu | CGC Arg# | TAC Tyr## | ACC Thr## | CAG Gln## | CGC Arg# | AGC Ser | CCC Pro | CAC His | CAC His | CCT Pro | GGC Gly | TTC Phe | CTC Leu# | TAC Tyr# |
| 271 91 | GGC Gly# | TCT Ser | GCC Ala# | ACC Thr | CCA Pro | GAA Glu | GAT Asp# | CGT Arg# | GGG Gly | CTC Leu | CAG Gln | GTC Val | ATT Ile# | GAG Glu | GTC Val |
| 316 106 | ACA Thr | GCC Ala | TAC Tyr | AAT Asn | CGG Arg# | GAC Asp | AGC Ser | TTT Phe | GAT Asp | ACC Thr | ACT Thr | CGG Arg | CAG Gln | AGG Arg | CTG Leu |
| 361 121 | GTG Val | CTG Leu | GAG Glu | ATT Ile# | GGG Gly | GAC Asp | CCA Pro | GAA Glu | GGC Gly | CCC Pro | CTG Leu | CTG Leu | CCA Pro | TAC Tyr | CAA Gln |
| 406 136 | GCC Ala | GAG Glu# | TTC Phe | CTG Leu# | GTG Val | CGC Arg# | AGC Ser | CAC His | GAT Asp | GCG Ala | GAG Glu | GAG Glu | GTG Val | CTG Leu | CCC Pro |
| 451 151 | TCA Ser | ACA Thr | CCT Pro | GCC Ala | AGC Ser | CGC Arg | TTC Phe | CTC Leu# | TCA Ser | GCC Ala | TTG Leu | GGG Gly | GGA Gly | CTC Leu | TGG Trp |
| 496 166 | GAG Glu | CCC Pro | GGA Gly | GAG Glu | CTT Leu | CAG Gln | CTG Leu | CTC Leu# | AAC Asn | GTC Val# | ACC Thr | TCT Ser | GCC Ala | TTG Leu | GAC Asp |
| 541 181 | CGT Arg# | GGG Gly | GGC Gly | CGT Arg | GTC Val | CCC Pro | CTT Leu | CCC Pro | ATT Ile | GAG Glu | GGC Gly | CGA Arg | AAA Lys | GAA Glu | GGG Gly# |
| 586 196 | GTA Val# | TAC Tyr | ATT Ile | AAG Lys | GTG Val | GGT Gly | TCT Ser | GCC Ala | TCA Ser | CCT Pro# | TTT Phe | TCT Ser | ACT Thr# | TGC Cys | CTG Leu |
| 631 211 | AAG Lys | ATG Met | GTG Val | GCA Ala | TCC Ser# | CCC Pro | GAT Asp | AGC Ser | CAC His | GCC Ala | CGC Arg# | TGT Cys | GCC Ala | CAG Gln# | GGC Gly |
| 676 226 | CAG Gln | CCT Pro# | CCA Pro# | CTT Leu | CTG Leu | TCT Ser | TGC Cys# | TAC Tyr | GAC Asp | ACC Thr | TTG Leu | GCA Ala | CCC Pro# | CAC His | TTC Phe |
| 721 241 | CGC Arg | GTT Val# | GAC Asp | TGG Trp | TGC Cys | AAT Asn | GTG Val# | ACC Thr | CTG Leu | GTG Val | GAT Asp | AAG Lys | TCA Ser | GTG Val | CCG Pro |
| 766 256 | GAG Glu | CCT Pro | GCA Ala | GAT Asp | GAG Glu | GTG Val | CCC Pro# | ACC Thr | CCA Pro | GGT Gly | GAT Asp | GGG Gly | ATC Ile | CTG Leu | GAG Glu |
| 811 271 | CAT His | GAC Asp# | CCG Pro | TTC Phe | TTC Phe | TGC Cys | CCA Pro | CCC Pro | ACT Thr | GAG Glu | GCC Ala | CCA Pro | GAC Asp | CGT Arg# | GAC Asp |
| 856 286 | TTC Phe | TTG Leu | GTG Val | GAT Asp | GCT Ala | CTG Leu | GTC Val | ACC Thr | CTC Leu | CTG Leu | GTG Val | CCC Pro | CTG Leu | CTG Leu | GTG Val |
| 901 301 | GCC Ala | CTG Leu | CTT Leu | CTC Leu | ACC Thr | TTG Leu | CTG Leu | CTG Leu | GCC Ala | TAT Tyr | GTC Val | ATG Met# | TGC Cys | TGC Cys | CGG Arg |
| 946 316 | CGG Arg | GAG Glu | GGA Gly | AGG Arg | CTG Leu | AAG Lys | AGA Arg | GAC Asp | CTG Leu | GCT Ala | ACC Thr | TCC Ser | GAC Asp | ATC Ile | CAG Gln |
| 991 331 | ATG Met | GTC Val | CAC His | CAC His | TGC Cys | ACC Thr | ATC Ile | CAC His | GGG Gly | AAC Asn | ACA Thr | GAG Glu | GAG Glu | CTG Leu | CGG Arg |
| 1036 346 | CAG Gln | ATG Met | GCG Ala | GCC Ala | AGC Ser | CGC Arg | GAG Glu | GTG Val | CCC Pro | CGG Arg | CCA Pro | CTC Leu | TCC Ser | ACC Thr | CTG Leu |
| 1081 361 | CCC Pro | ATG Met | TTC Phe | AAT Asn | GTG Val | CAC His | ACA Thr | GGT Gly | GAG Glu | CGG Arg | CTG Leu | CCT Pro | CCC Pro | CGC Arg | GTG Val |
| 1126 376 | GAC Asp | AGC Ser | GCC Ala | CAG Gln | GTG Val | CCC Pro | CTC Leu | ATT Ile | CTG Leu | GAC Asp | CAG Gln | CAC His | TGA Ter |
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Note the previously determined missense mutations marked with #. The present deletion was marked with ## and bold letters.
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