Prediction |
disease causing |
Model: simple_aae, prob: 0.999999999987709
(explain) |
Summary |
- amino acid sequence changed
- known disease mutation at this position (HGMD CM920108)
- protein features (might be) affected
- splice site changes
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hyperlink |
analysed issue |
analysis result |
name of alteration | no title |
alteration (phys. location) | chr5:78251309A>GN/A
show variant in all transcripts IGV
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HGNC symbol | ARSB |
Ensembl transcript ID | ENST00000565165 |
Genbank transcript ID | N/A |
UniProt peptide | P15848 |
alteration type | single base exchange |
alteration region | CDS |
DNA changes | c.707T>C cDNA.1206T>C g.30602T>C |
AA changes | L236P Score: 98 explain score(s) |
position(s) of altered AA if AA alteration in CDS | 236 |
frameshift | no |
known variant | Reference ID: rs118203940
Allele 'G' was neither found in ExAC nor 1000G. known disease mutation at this position, please check HGMD for details (HGMD ID CM920108)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920108) known disease mutation at this position, please check HGMD for details (HGMD ID CM920108)
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regulatory features | H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | -0.509 | 0.89 | | 4.71 | 1 | (flanking) | 3.776 | 1 | explain score(s) and/or inspect your position(s) in in UCSC Genome Browser |
splice sites | effect | gDNA position | score | wt detection sequence | exon-intron border | Acc marginally increased | 30598 | wt: 0.9535 / mu: 0.9587 (marginal change - not scored) | wt: CTTTCCAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTGTG mu: CTTTCCAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTGTG | ctct|ACCT | Acc increased | 30599 | wt: 0.68 / mu: 0.77 | wt: TTTCCAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTGTGC mu: TTTCCAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTGTGC | tcta|CCTT | Acc marginally increased | 30609 | wt: 0.5181 / mu: 0.5455 (marginal change - not scored) | wt: CTGTTTCTCTACCTTGCTCTCCAGTCTGTGCATGAGCCCCT mu: CTGTTTCTCTACCCTGCTCTCCAGTCTGTGCATGAGCCCCT | tctc|CAGT | Acc increased | 30596 | wt: 0.43 / mu: 0.57 | wt: TTCTTTCCAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTG mu: TTCTTTCCAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTG | ttct|CTAC | Acc marginally increased | 30594 | wt: 0.9049 / mu: 0.9259 (marginal change - not scored) | wt: CTTTCTTTCCAGCCTCTGTTTCTCTACCTTGCTCTCCAGTC mu: CTTTCTTTCCAGCCTCTGTTTCTCTACCCTGCTCTCCAGTC | gttt|CTCT | Acc marginally increased | 30597 | wt: 0.7234 / mu: 0.7417 (marginal change - not scored) | wt: TCTTTCCAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTGT mu: TCTTTCCAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTGT | tctc|TACC | Acc marginally increased | 30607 | wt: 0.9463 / mu: 0.9513 (marginal change - not scored) | wt: CTCTGTTTCTCTACCTTGCTCTCCAGTCTGTGCATGAGCCC mu: CTCTGTTTCTCTACCCTGCTCTCCAGTCTGTGCATGAGCCC | gctc|TCCA | Acc marginally increased | 30603 | wt: 0.9643 / mu: 0.9676 (marginal change - not scored) | wt: CAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTGTGCATGA mu: CAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTGTGCATGA | cctt|GCTC |
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distance from splice site | 17 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | |
protein features | start (aa) | end (aa) | feature | details | | 232 | 237 | STRAND | | lost | 242 | 242 | BINDING | Substrate (By similarity). | might get lost (downstream of altered splice site) | 242 | 244 | STRAND | | might get lost (downstream of altered splice site) | 249 | 251 | HELIX | | might get lost (downstream of altered splice site) | 253 | 255 | HELIX | | might get lost (downstream of altered splice site) | 261 | 286 | HELIX | | might get lost (downstream of altered splice site) | 279 | 279 | CARBOHYD | N-linked (GlcNAc...). | might get lost (downstream of altered splice site) | 290 | 292 | HELIX | | might get lost (downstream of altered splice site) | 291 | 291 | CARBOHYD | N-linked (GlcNAc...) (Probable). | might get lost (downstream of altered splice site) | 293 | 301 | STRAND | | might get lost (downstream of altered splice site) | 300 | 300 | METAL | Calcium. | might get lost (downstream of altered splice site) | 301 | 301 | METAL | Calcium. | might get lost (downstream of altered splice site) | 305 | 307 | HELIX | | might get lost (downstream of altered splice site) | 318 | 318 | BINDING | Substrate (By similarity). | might get lost (downstream of altered splice site) | 320 | 322 | STRAND | | might get lost (downstream of altered splice site) | 323 | 326 | HELIX | | might get lost (downstream of altered splice site) | 330 | 333 | STRAND | | might get lost (downstream of altered splice site) | 341 | 344 | STRAND | | might get lost (downstream of altered splice site) | 350 | 352 | HELIX | | might get lost (downstream of altered splice site) | 353 | 360 | HELIX | | might get lost (downstream of altered splice site) | 366 | 366 | CARBOHYD | N-linked (GlcNAc...). | might get lost (downstream of altered splice site) | 377 | 382 | HELIX | | might get lost (downstream of altered splice site) | 390 | 396 | STRAND | | might get lost (downstream of altered splice site) | 405 | 405 | DISULFID | | might get lost (downstream of altered splice site) | 408 | 410 | CONFLICT | NSM -> SPC (in Ref. 1; AA sequence). | might get lost (downstream of altered splice site) | 426 | 426 | CARBOHYD | N-linked (GlcNAc...). | might get lost (downstream of altered splice site) | 429 | 435 | STRAND | | might get lost (downstream of altered splice site) | 438 | 443 | STRAND | | might get lost (downstream of altered splice site) | 447 | 447 | DISULFID | | might get lost (downstream of altered splice site) | 454 | 456 | TURN | | might get lost (downstream of altered splice site) | 458 | 458 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | 472 | 476 | STRAND | | might get lost (downstream of altered splice site) | 477 | 479 | TURN | | might get lost (downstream of altered splice site) | 488 | 490 | TURN | | might get lost (downstream of altered splice site) | 492 | 507 | HELIX | | might get lost (downstream of altered splice site) | 519 | 521 | HELIX | | might get lost (downstream of altered splice site) | 521 | 521 | DISULFID | | might get lost (downstream of altered splice site) | 524 | 526 | TURN | | might get lost (downstream of altered splice site) |
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length of protein | normal |
AA sequence altered | yes |
position of stopcodon in wt / mu CDS | 1242 / 1242 |
position (AA) of stopcodon in wt / mu AA sequence | 414 / 414 |
position of stopcodon in wt / mu cDNA | 1741 / 1741 |
poly(A) signal | N/A |
conservation nucleotide level for all changes - no scoring up to now | N/A |
position of start ATG in wt / mu cDNA | 500 / 500 |
chromosome | 5 |
strand | -1 |
last intron/exon boundary | 1713 |
theoretical NMD boundary in CDS | 1163 |
length of CDS | 1242 |
coding sequence (CDS) position | 707 |
cDNA position (for ins/del: last normal base / first normal base) | 1206 |
gDNA position (for ins/del: last normal base / first normal base) | 30602 |
chromosomal position (for ins/del: last normal base / first normal base) | 78251309 |
original gDNA sequence snippet | CCAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTGTGCATG |
altered gDNA sequence snippet | CCAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTGTGCATG |
original cDNA sequence snippet | GAAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTGTGCATG |
altered cDNA sequence snippet | GAAGCCTCTGTTTCTCTACCCTGCTCTCCAGTCTGTGCATG |
wildtype AA sequence | MGPRGAASLP RGPGPRRLLL PVVLPLLLLL LLAPPGSGAG ASRPPHLVFL LADDLGWNDV GFHGSRIRTP HLDALAAGGV LLDNYYTQPL CTPSRSQLLT GRYQIRTGLQ HQIIWPCQPS CVPLDEKLLP QLLKEAGYTT HMVGKWHLGM YRKECLPTRR GFDTYFGYLL GSEDYYSHER CTLIDALNVT RCALDFRDGE EVATGYKNMY STNIFTKRAI ALITNHPPEK PLFLYLALQS VHEPLQVPEE YLKPYDFIQD KNRHHYAGMV SLMDEAVGNV TAALKSSGLW NNTVFIFSTD NGGQTLAGGN NWPLRGRKWS LWEGGVRGVG FVASPLLKQK GVKNRELIHI SDWLPTLVKL ARGHTNGTKP LDGFDVWKTI SEGSPSPRIE LLHNIDPNFV DSSPYWPECS LLL* |
mutated AA sequence | MGPRGAASLP RGPGPRRLLL PVVLPLLLLL LLAPPGSGAG ASRPPHLVFL LADDLGWNDV GFHGSRIRTP HLDALAAGGV LLDNYYTQPL CTPSRSQLLT GRYQIRTGLQ HQIIWPCQPS CVPLDEKLLP QLLKEAGYTT HMVGKWHLGM YRKECLPTRR GFDTYFGYLL GSEDYYSHER CTLIDALNVT RCALDFRDGE EVATGYKNMY STNIFTKRAI ALITNHPPEK PLFLYPALQS VHEPLQVPEE YLKPYDFIQD KNRHHYAGMV SLMDEAVGNV TAALKSSGLW NNTVFIFSTD NGGQTLAGGN NWPLRGRKWS LWEGGVRGVG FVASPLLKQK GVKNRELIHI SDWLPTLVKL ARGHTNGTKP LDGFDVWKTI SEGSPSPRIE LLHNIDPNFV DSSPYWPECS LLL* |
speed | 0.59 s |
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