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 |
|
|
Note the previously determined missense mutations marked with #. The present deletion was marked with ## and bold letters.
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