Difference between revisions of "Mapping mutations of ARS A"

From Bioinformatikpedia
(→‎dbSNP)
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=== HGMD ===
  
=== HGMD ===
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{| border="1" style="text-align:center; border-spacing:0;"
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| '''Accession Number''' || '''Codon change''' || '''Amino acid change''' || '''position'''
  +
|-
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| CM042298 || cGAC-AAC || Asp-Asn || 29
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|-
  +
| CM990171 || cGGC-AGC || Gly-Ser || 32
  +
|-
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| CM065974 || CTG-CCG || Leu-Pro || 52
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|-
  +
| CM990172 || CTG-CCG || Leu-Pro || 68
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|-
  +
| CM950092 || CCG-CTG || Pro-Leu || 82
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|-
  +
| CM940096 || CGG-CAG || Arg-Gln || 84
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|-
  +
| CM990173 || tCGG-TGG || Arg-Trp || 84
  +
|-
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| CM940097 || GGC-GAC || Gly-Asp || 86
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|-
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| CM990174 || gCCC-GCC || Pro-Ala || 94
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|-
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| CM970109 || AGC-AAC || Ser-Asn || 95
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|-
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| CM910049 || TCC-TTC || Ser-Phe || 96
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|-
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| CM910050 || GGC-GAC || Gly-Asp || 99
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|-
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| CM990175 || GGC-GTC || Gly-Val || 99
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|-
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| CM970110 || aGGA-AGA || Gly-Arg || 119
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|-
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| CM940098 || cGGC-AGC || Gly-Ser || 122
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|-
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| CM980118 || CTG-CCG || Leu-Pro || 135
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|-
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| CM940099 || CCC-CTC || Pro-Leu || 136
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|-
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| CM990176 || gCCC-TCC || Pro-Ser || 136
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|-
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| CM004461 || tCGA-GGA || Arg-Gly || 143
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|-
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| CM990177 || CCG-CTG || Pro-Leu || 148
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|-
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| CM970111 || cGAC-TAC || Asp-Tyr || 152
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|-
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| CM962419 || CAGg-CAC || Gln-His || 153
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|-
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| CM940100 || GGC-GAC || Gly-Asp || 154
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|-
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| CM940101 || CCC-CGC || Pro-Arg || 155
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|-
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| CM032834 || CCC-CTC || Pro-Leu || 155
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|-
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| CM042299 || cTGC-CGC || Cys-Arg || 156
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|-
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| CM940102 || CCT-CGT || Pro-Arg || 167
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|-
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| CM940103 || cGAC-AAC || Asp-Asn || 169
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|-
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| CM950093 || TGT-TAT || Cys-Tyr || 172
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|-
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| CM910051 || ATC-AGC || Ile-Ser || 179
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|-
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| CM032835 || CTG-CAG || Leu-Gln || 181
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|-
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| CM950094 || CAGc-CAC || Gln-His || 190
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|-
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| CM990178 || gCCC-ACC || Pro-Thr || 191
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|-
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| CM990179 || TGGc-TGA || Trp-Term || 193
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|-
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| CM950095 || TAC-TGC || Tyr-Cys || 201
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|-
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| CM930039 || GCC-GTC || Ala-Val || 212
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|-
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| CM050538 || cTTC-GTC || Phe-Val || 219
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|-
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| CM930040 || GCC-GTC || Ala-Val || 224
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|-
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| CM990180 || cCAC-TAC || His-Tyr || 227
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|-
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| CM940104 || cCCT-ACT || Pro-Thr || 231
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|-
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| CM940105 || cCGC-TGC || Arg-Cys || 244
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|-
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| CM970112 || CGC-CAC || Arg-His || 244
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|-
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| CM930041 || cGGG-AGG || Gly-Arg || 245
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|-
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| CM034715 || TTT-TCT || Phe-Ser || 247
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|-
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| CM970113 || TCC-TAC || Ser-Tyr || 250
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|-
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| CM024340 || gGAG-AAG || Glu-Lys || 253
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|-
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| CM960078 || gGAT-CAT || Asp-His || 255
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|-
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| CM930042 || ACG-ATG || Thr-Met || 274
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|-
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| CM074714 || ACT-ATT || Thr-Ile || 279
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|-
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| CM993444 || aGAC-TAC || Asp-Tyr || 281
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|-
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| CM023013 || gACC-CCC || Thr-Pro || 286
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|-
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| CM990181 || CGT-CAT || Arg-His || 288
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|-
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| CM940106 || gCGT-TGT || Arg-Cys || 288
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|-
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| CM042300 || cGGC-AGC || Gly-Ser || 293
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|-
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| CM044574 || GGC-GAC || Gly-Asp || 293
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|-
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| CM042301 || TGC-TAC || Cys-Tyr || 294
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|-
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| CM930043 || TCC-TAC || Ser-Tyr || 295
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|-
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| CM980119 || TTG-TCG || Leu-Ser || 298
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|-
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| CM990182 || TGT-TTT || Cys-Phe || 300
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|-
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| CM032836 || cTAC-CAC || Tyr-His || 306
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|-
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| HM060041 || cGAG-AAG || Glu-Lys || 307
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|-
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| CM990183 || GGC-GAC || Gly-Asp || 308
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|-
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| CM962420 || GGC-GTC || Gly-Val || 308
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|-
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| CM930044 || cGGT-AGT || Gly-Ser || 309
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|-
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| CM950096 || CGA-CAA || Arg-Gln || 311
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|-
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| CM001061 || GAGc-GAT || Glu-Asp || 312
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|-
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| CM970114 || tGCC-ACC || Ala-Thr || 314
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|-
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| CM004546 || TGGc-TGA || Trp-Term || 318
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|-
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| CM032837 || cGGC-AGC || Gly-Ser || 325
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|-
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| CM990184 || ACC-ATC || Thr-Ile || 327
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|-
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| CM065973 || cGAG-TAG || Glu-Term || 329
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|-
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| CM940107 || GAC-GTC || Asp-Val || 335
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|-
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| CM890013 || AAT-AGT || Asn-Ser || 350
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|-
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| CM970115 || AAGa-AAC || Lys-Asn || 367
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|-
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| CM940108 || CGG-CAG || Arg-Gln || 370
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|-
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| CM940109 || tCGG-TGG || Arg-Trp || 370
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|-
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| CM940110 || CCG-CTG || Pro-Leu || 377
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|-
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| CM930045 || cGAG-AAG || Glu-Lys || 382
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|-
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| CM970116 || cCGT-TGT || Arg-Cys || 384
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|-
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| CM980120 || CGG-CAG || Arg-Gln || 390
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|-
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| CM940111 || gCGG-TGG || Arg-Trp || 390
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|-
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| CM910052 || ACT-AGT || Thr-Ser || 391
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|-
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| CM980121 || tCAC-TAC || His-Tyr || 397
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|-
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| CM065972 || cAGT-GGT || Ser-Gly || 406
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|-
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| CM012065 || ACC-ATC || Thr-Ile || 408
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|-
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| CM940112 || ACT-ATT || Thr-Ile || 409
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|-
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| CM990185 || gCCC-ACC || Pro-Thr || 425
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|-
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| CM940113 || CCG-CTG || Pro-Leu || 426
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|-
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| CM970117 || CTC-CCC || Leu-Pro || 428
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|-
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| CM032838 || TAT-TCT || Tyr-Ser || 429
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|-
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| CM990186 || GCC-GTC || Ala-Val || 464
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|-
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| CM034716 || GCT-GGT || Ala-Gly || 469
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|-
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| CM940114 || gCAG-TAG || Gln-Term || 486
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|-
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| CM044573 || cTGT-GGT || Cys-Gly || 489
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|-
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|}
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=== dbSNP ===
  
=== dbSNP ===

Revision as of 12:08, 16 June 2011

HGMD

Accession Number Codon change Amino acid change position
CM042298 cGAC-AAC Asp-Asn 29
CM990171 cGGC-AGC Gly-Ser 32
CM065974 CTG-CCG Leu-Pro 52
CM990172 CTG-CCG Leu-Pro 68
CM950092 CCG-CTG Pro-Leu 82
CM940096 CGG-CAG Arg-Gln 84
CM990173 tCGG-TGG Arg-Trp 84
CM940097 GGC-GAC Gly-Asp 86
CM990174 gCCC-GCC Pro-Ala 94
CM970109 AGC-AAC Ser-Asn 95
CM910049 TCC-TTC Ser-Phe 96
CM910050 GGC-GAC Gly-Asp 99
CM990175 GGC-GTC Gly-Val 99
CM970110 aGGA-AGA Gly-Arg 119
CM940098 cGGC-AGC Gly-Ser 122
CM980118 CTG-CCG Leu-Pro 135
CM940099 CCC-CTC Pro-Leu 136
CM990176 gCCC-TCC Pro-Ser 136
CM004461 tCGA-GGA Arg-Gly 143
CM990177 CCG-CTG Pro-Leu 148
CM970111 cGAC-TAC Asp-Tyr 152
CM962419 CAGg-CAC Gln-His 153
CM940100 GGC-GAC Gly-Asp 154
CM940101 CCC-CGC Pro-Arg 155
CM032834 CCC-CTC Pro-Leu 155
CM042299 cTGC-CGC Cys-Arg 156
CM940102 CCT-CGT Pro-Arg 167
CM940103 cGAC-AAC Asp-Asn 169
CM950093 TGT-TAT Cys-Tyr 172
CM910051 ATC-AGC Ile-Ser 179
CM032835 CTG-CAG Leu-Gln 181
CM950094 CAGc-CAC Gln-His 190
CM990178 gCCC-ACC Pro-Thr 191
CM990179 TGGc-TGA Trp-Term 193
CM950095 TAC-TGC Tyr-Cys 201
CM930039 GCC-GTC Ala-Val 212
CM050538 cTTC-GTC Phe-Val 219
CM930040 GCC-GTC Ala-Val 224
CM990180 cCAC-TAC His-Tyr 227
CM940104 cCCT-ACT Pro-Thr 231
CM940105 cCGC-TGC Arg-Cys 244
CM970112 CGC-CAC Arg-His 244
CM930041 cGGG-AGG Gly-Arg 245
CM034715 TTT-TCT Phe-Ser 247
CM970113 TCC-TAC Ser-Tyr 250
CM024340 gGAG-AAG Glu-Lys 253
CM960078 gGAT-CAT Asp-His 255
CM930042 ACG-ATG Thr-Met 274
CM074714 ACT-ATT Thr-Ile 279
CM993444 aGAC-TAC Asp-Tyr 281
CM023013 gACC-CCC Thr-Pro 286
CM990181 CGT-CAT Arg-His 288
CM940106 gCGT-TGT Arg-Cys 288
CM042300 cGGC-AGC Gly-Ser 293
CM044574 GGC-GAC Gly-Asp 293
CM042301 TGC-TAC Cys-Tyr 294
CM930043 TCC-TAC Ser-Tyr 295
CM980119 TTG-TCG Leu-Ser 298
CM990182 TGT-TTT Cys-Phe 300
CM032836 cTAC-CAC Tyr-His 306
HM060041 cGAG-AAG Glu-Lys 307
CM990183 GGC-GAC Gly-Asp 308
CM962420 GGC-GTC Gly-Val 308
CM930044 cGGT-AGT Gly-Ser 309
CM950096 CGA-CAA Arg-Gln 311
CM001061 GAGc-GAT Glu-Asp 312
CM970114 tGCC-ACC Ala-Thr 314
CM004546 TGGc-TGA Trp-Term 318
CM032837 cGGC-AGC Gly-Ser 325
CM990184 ACC-ATC Thr-Ile 327
CM065973 cGAG-TAG Glu-Term 329
CM940107 GAC-GTC Asp-Val 335
CM890013 AAT-AGT Asn-Ser 350
CM970115 AAGa-AAC Lys-Asn 367
CM940108 CGG-CAG Arg-Gln 370
CM940109 tCGG-TGG Arg-Trp 370
CM940110 CCG-CTG Pro-Leu 377
CM930045 cGAG-AAG Glu-Lys 382
CM970116 cCGT-TGT Arg-Cys 384
CM980120 CGG-CAG Arg-Gln 390
CM940111 gCGG-TGG Arg-Trp 390
CM910052 ACT-AGT Thr-Ser 391
CM980121 tCAC-TAC His-Tyr 397
CM065972 cAGT-GGT Ser-Gly 406
CM012065 ACC-ATC Thr-Ile 408
CM940112 ACT-ATT Thr-Ile 409
CM990185 gCCC-ACC Pro-Thr 425
CM940113 CCG-CTG Pro-Leu 426
CM970117 CTC-CCC Leu-Pro 428
CM032838 TAT-TCT Tyr-Ser 429
CM990186 GCC-GTC Ala-Val 464
CM034716 GCT-GGT Ala-Gly 469
CM940114 gCAG-TAG Gln-Term 486
CM044573 cTGT-GGT Cys-Gly 489


dbSNP

The "SNP" search for ARSA yielded 123 known human mutations for the protein. These are more than selecting the SNPO over the GeneView interface... This is because there exist two isoforms of ARSA and we manually checked that a lot of the other mutations belonged to the other isoform (NP_001078897). We used the isoform, which we have used so far (NP_000478). We chose the gene sequence within GeneView such that it matched the sequence version, that we used so far.

SNP ID SNP type nucleotide (mutation) amino acid (mutation) nucleotide (reference) amino acid (reference) position
rs6151428 missense A His [H] G Arg [R] 496
rs117341984 missense A Arg [R] G Gly [G] 447
rs6151427 missense G Ser [S] A Asn [N] 440
rs6151425 synonymous T Asp [D] C Asp [D] 381
rs6151422 missense G Val [V] T Phe [F] 356
rs113990230 synonymous C His [H] T His [H] 206
rs62001867 missense A Thr [T] G Ala [A] 205
rs34457249 synonymous T Pro [P] C Pro [P] 195
rs6151415 missense T Cys [C] G Trp [W] 193
rs113209108 synonymous T Ser [S] C Ser [S] 186
rs6151412 synonymous T His [H] C His [H] 151
rs60504011 missense G Ala [A] C Pro [P] 136
rs6151411 missense G Leu [L] C Pro [P] 82
rs6151410 missense T Gly [G] C Gly [G] 79
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