Difference between revisions of "Mapping mutations of ARS A"
From Bioinformatikpedia
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<code> |
<code> |
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>sp|P15289|ARSA_HUMAN |
>sp|P15289|ARSA_HUMAN |
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| + | MGAPRSLLLALAAGLAVARPPNIVLIFA<span style="background:#ff0000">D</span>DL<span style="background:#ff0000">G</span>YGDLGCYGHPSSTTPNLDQ<span style="background:#ff0000">L</span>AAGGLRFTDFYVPVS<span style="background:#ff0000">L</span>CTPSRAALLTGRL<span style="background:#ff0000">P</span>V<span style="background:#ff0000">R</span>M<span style="background:#ff0000">G</span>MYPGVLV<span style="background:#ff0000">P</span><span style="background:#ff0000">S</span><span style="background:#ff0000">S</span>RG<span style="background:#ff0000">G</span>LPLEEVTVAEVLAARGYLT<span style="background:#ff0000">G</span>MA<span style="background:#ff0000">G</span>KWHLGVGPEGAF<span style="background:#ff0000">L</span><span style="background:#ff0000">P</span>PHQGFH<span style="background:#ff0000">R</span>FLGI<span style="background:#ff0000">P</span>YSH<span style="background:#ff0000">D</span><span style="background:#ff0000">Q</span><span style="background:#ff0000">G</span><span style="background:#ff0000">P</span><span style="background:#ff0000">C</span>QNLTCFPPAT<span style="background:#ff0000">P</span>C<span style="background:#ff0000">D</span>GG<span style="background:#ff0000">C</span>DQGLVP<span style="background:#ff0000">I</span>P<span style="background:#ff0000">L</span>LANLSVEA<span style="background:#ff0000">Q</span><span style="background:#ff0000">P</span>PWLPGLEAR<span style="background:#ff0000">Y</span>MAFAHDLMAD<span style="background:#ff0000">A</span>QRQDRP<span style="background:#ff0000">F</span>FLYY<span style="background:#ff0000">A</span>SH<span style="background:#ff0000">H</span>THY<span style="background:#ff0000">P</span>QFSGQSFAERSG<span style="background:#ff0000">R</span><span style="background:#ff0000">G</span>P<span style="background:#ff0000">F</span>GD<span style="background:#ff0000">S</span>LM<span style="background:#ff0000">E</span>L<span style="background:#ff0000">D</span>AAVGTLMTAIGDLGLLEE<span style="background:#ff0000">T</span>LVIF<span style="background:#ff0000">T</span>A<span style="background:#ff0000">D</span>NGPE<span style="background:#ff0000">T</span>M<span style="background:#ff0000">R</span>MSRG<span style="background:#ff0000">G</span><span style="background:#ff0000">C</span><span style="background:#ff0000">S</span>GL<span style="background:#ff0000">L</span>R<span style="background:#ff0000">C</span>GKGTT<span style="background:#ff0000">Y</span><span style="background:#ff0000">E</span><span style="background:#ff0000">G</span><span style="background:#ff0000">G</span>V<span style="background:#ff0000">R</span><span style="background:#ff0000">E</span>P<span style="background:#ff0000">A</span>LAFWPGHIAP<span style="background:#ff0000">G</span>V<span style="background:#ff0000">T</span>HELASSL<span style="background:#ff0000">D</span>LLPTLAALAGAPLP<span style="background:#ff0000">N</span>VTLDGFDLSPLLLGTG<span style="background:#ff0000">K</span>SP<span style="background:#ff0000">R</span>QSLFFY<span style="background:#ff0000">P</span>SYPD<span style="background:#ff0000">E</span>V<span style="background:#ff0000">R</span>GVFAV<span style="background:#ff0000">R</span><span style="background:#ff0000">T</span>GKYKA<span style="background:#ff0000">H</span>FFTQGSAH<span style="background:#ff0000">S</span>D<span style="background:#ff0000">T</span><span style="background:#ff0000">T</span>ADPACHASSSLTAHE<span style="background:#ff0000">P</span><span style="background:#ff0000">P</span>L<span style="background:#ff0000">L</span><span style="background:#ff0000">Y</span>DLSKDPGENYNLLGGVAGATPEVLQALKQLQLLK<span style="background:#ff0000">A</span>QLDA<span style="background:#ff0000">A</span>VTFGPSQVARGEDPALQIC<span style="background:#ff0000">C</span>HPGCTPRPACCHCPDPHA |
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| − | MGAPRSLLLALAAGLAVARPPNIVLIFA<span style="background:#ff0000">D</span>DL<span style="background:#ff0000">G</span>YGDLGCYGHPSSTTPNLDQ<span style="background:#ff0000">L</span>AAGGLRFTD<br> |
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| − | FYVPVS<span style="background:#ff0000">L</span>CTPSRAALLTGRL<span style="background:#ff0000">P</span>V<span style="background:#ff0000">R</span>M<span style="background:#ff0000">G</span>MYPGVLV<span style="background:#ff0000">P</span><span style="background:#ff0000">S</span><span style="background:#ff0000">S</span>RG<span style="background:#ff0000">G</span>LPLEEVTVAEVLAARGYLT<span style="background:#ff0000">G</span>MA<br> |
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| − | <span style="background:#ff0000">G</span>KWHLGVGPEGAF<span style="background:#ff0000">L</span><span style="background:#ff0000">P</span>PHQGFH<span style="background:#ff0000">R</span>FLGI<span style="background:#ff0000">P</span>YSH<span style="background:#ff0000">D</span><span style="background:#ff0000">Q</span><span style="background:#ff0000">G</span><span style="background:#ff0000">P</span><span style="background:#ff0000">C</span>QNLTCFPPAT<span style="background:#ff0000">P</span>C<span style="background:#ff0000">D</span>GG<span style="background:#ff0000">C</span>DQGLVP<span style="background:#ff0000">I</span>P<span style="background:#ff0000">L</span><br> |
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| − | LANLSVEA<span style="background:#ff0000">Q</span><span style="background:#ff0000">P</span>PWLPGLEAR<span style="background:#ff0000">Y</span>MAFAHDLMAD<span style="background:#ff0000">A</span>QRQDRP<span style="background:#ff0000">F</span>FLYY<span style="background:#ff0000">A</span>SH<span style="background:#ff0000">H</span>THY<span style="background:#ff0000">P</span>QFSGQSFAER<br> |
||
| − | SG<span style="background:#ff0000">R</span><span style="background:#ff0000">G</span>P<span style="background:#ff0000">F</span>GD<span style="background:#ff0000">S</span>LM<span style="background:#ff0000">E</span>L<span style="background:#ff0000">D</span>AAVGTLMTAIGDLGLLEE<span style="background:#ff0000">T</span>LVIF<span style="background:#ff0000">T</span>A<span style="background:#ff0000">D</span>NGPE<span style="background:#ff0000">T</span>M<span style="background:#ff0000">R</span>MSRG<span style="background:#ff0000">G</span><span style="background:#ff0000">C</span><span style="background:#ff0000">S</span>GL<span style="background:#ff0000">L</span>R<span style="background:#ff0000">C</span>G<br> |
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| − | KGTT<span style="background:#ff0000">Y</span><span style="background:#ff0000">E</span><span style="background:#ff0000">G</span><span style="background:#ff0000">G</span>V<span style="background:#ff0000">R</span><span style="background:#ff0000">E</span>P<span style="background:#ff0000">A</span>LAFWPGHIAP<span style="background:#ff0000">G</span>V<span style="background:#ff0000">T</span>HELASSL<span style="background:#ff0000">D</span>LLPTLAALAGAPLP<span style="background:#ff0000">N</span>VTLDGFDLSPL<br> |
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| − | LLGTG<span style="background:#ff0000">K</span>SP<span style="background:#ff0000">R</span>QSLFFY<span style="background:#ff0000">P</span>SYPD<span style="background:#ff0000">E</span>V<span style="background:#ff0000">R</span>GVFAV<span style="background:#ff0000">R</span><span style="background:#ff0000">T</span>GKYKA<span style="background:#ff0000">H</span>FFTQGSAH<span style="background:#ff0000">S</span>D<span style="background:#ff0000">T</span><span style="background:#ff0000">T</span>ADPACHASSSLT<br> |
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| − | AHE<span style="background:#ff0000">P</span><span style="background:#ff0000">P</span>L<span style="background:#ff0000">L</span><span style="background:#ff0000">Y</span>DLSKDPGENYNLLGGVAGATPEVLQALKQLQLLK<span style="background:#ff0000">A</span>QLDA<span style="background:#ff0000">A</span>VTFGPSQVARGE<br> |
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| − | DPALQIC<span style="background:#ff0000">C</span>HPGCTPRPACCHCPDPHA |
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</code> |
</code> |
||
Revision as of 12:55, 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 |
>sp|P15289|ARSA_HUMAN
MGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPDPHA
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 |
The mutation map
TEXT TEXT
