Prediction |
disease causing |
Model: simple_aae, prob: 0.999999995238027 (classification due to ClinVar,
real probability is shown anyway)
(explain) |
Summary |
- amino acid sequence changed
- known disease mutation at this position (HGMD CM950102)
- known disease mutation: rs2606 (pathogenic)
- 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) | chr17:3386814T>CN/A
show variant in all transcripts IGV
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HGNC symbol | ASPA |
Ensembl transcript ID | ENST00000263080 |
Genbank transcript ID | NM_000049 |
UniProt peptide | P45381 |
alteration type | single base exchange |
alteration region | CDS |
DNA changes | c.454T>C cDNA.612T>C g.11147T>C |
AA changes | C152R Score: 180 explain score(s) |
position(s) of altered AA if AA alteration in CDS | 152 |
frameshift | no |
known variant | Reference ID: rs104894548
Allele 'C' was neither found in ExAC nor 1000G. known disease mutation: rs2606 (pathogenic for Spongy degeneration of central nervous system) dbSNP
NCBI variation viewer known disease mutation at this position, please check HGMD for details (HGMD ID CM950102)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950102) known disease mutation at this position, please check HGMD for details (HGMD ID CM950102)
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regulatory features | H4K5ac, Histone, Histone 4 Lysine 5 Acetylation H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation H3K27ac, Histone, Histone 3 Lysine 27 Acetylation |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | 0.993 | 1 | | 2.578 | 1 | (flanking) | 3.373 | 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 increased | 11141 | wt: 0.34 / mu: 0.44 | wt: TTCAGACTTCTCTGGCTCCACTACCCTGCTACGTTTATCTG mu: TTCAGACTTCTCTGGCTCCACTACCCCGCTACGTTTATCTG | ccac|TACC | Acc marginally increased | 11143 | wt: 0.7975 / mu: 0.8285 (marginal change - not scored) | wt: CAGACTTCTCTGGCTCCACTACCCTGCTACGTTTATCTGAT mu: CAGACTTCTCTGGCTCCACTACCCCGCTACGTTTATCTGAT | acta|CCCT | Acc marginally increased | 11140 | wt: 0.6867 / mu: 0.7095 (marginal change - not scored) | wt: TTTCAGACTTCTCTGGCTCCACTACCCTGCTACGTTTATCT mu: TTTCAGACTTCTCTGGCTCCACTACCCCGCTACGTTTATCT | tcca|CTAC | Acc marginally increased | 11147 | wt: 0.3376 / mu: 0.3384 (marginal change - not scored) | wt: CTTCTCTGGCTCCACTACCCTGCTACGTTTATCTGATTGAG mu: CTTCTCTGGCTCCACTACCCCGCTACGTTTATCTGATTGAG | ccct|GCTA | Donor marginally increased | 11147 | wt: 0.9910 / mu: 0.9964 (marginal change - not scored) | wt: TACCCTGCTACGTTT mu: TACCCCGCTACGTTT | CCCT|gcta |
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distance from splice site | 22 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | species | match | gene | aa | alignment | Human | | | 152 | H | Y | I | K | T | S | L | A | P | L | P | C | Y | V | Y | L | I | E | H | P | S | L | K | Y |
mutated | not conserved | | 152 | H | Y | I | K | T | S | L | A | P | L | P | R | Y | V | Y | L | I | E | H | P | S | L | K |
Ptroglodytes | all identical | ENSPTRG00000008568 | 152 | H | Y | I | K | T | S | L | A | P | L | P | C | Y | V | Y | L | I | E | H | P | S | L | K |
Mmulatta | all identical | ENSMMUG00000030388 | 152 | H | Y | I | K | T | S | L | A | P | L | P | C | Y | V | Y | L | I | E | H | P | S | L | K |
Fcatus | no alignment | ENSFCAG00000007919 | n/a | |
Mmusculus | all identical | ENSMUSG00000020774 | 151 | H | Y | I | K | T | C | M | A | P | L | P | C | S | V | Y | L | I | E | H | P | S | L | K |
Ggallus | not conserved | ENSGALG00000004669 | 153 | H | Y | I | K | N | A | L | A | P | E | R | V | P | V | L | L | I | E | H | P | N | L | K |
Trubripes | no homologue | | | |
Drerio | all identical | ENSDARG00000005154 | 154 | H | Y | I | K | K | A | M | A | P | H | T | C | S | V | L | L | N | E | H | P | Q | L | K |
Dmelanogaster | no homologue | | | |
Celegans | no homologue | | | |
Xtropicalis | all identical | ENSXETG00000005789 | 151 | N | Y | I | K | T | S | M | A | P | L | A | C | S | V | L | L | I | E | H | P | R | L | K |
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protein features | start (aa) | end (aa) | feature | details | | 152 | 156 | STRAND | | lost | 160 | 162 | STRAND | | might get lost (downstream of altered splice site) | 164 | 164 | MUTAGEN | Y->F: Reduces activity by 99%. | might get lost (downstream of altered splice site) | 164 | 168 | REGION | Substrate binding. | might get lost (downstream of altered splice site) | 167 | 170 | HELIX | | might get lost (downstream of altered splice site) | 168 | 168 | MUTAGEN | R->K: Reduces activity by 99%. | might get lost (downstream of altered splice site) | 171 | 180 | STRAND | | might get lost (downstream of altered splice site) | 178 | 178 | MUTAGEN | E->D: Abolishes enzymatic activity. | might get lost (downstream of altered splice site) | 178 | 178 | MUTAGEN | E->Q: Abolishes enzymatic activity. | might get lost (downstream of altered splice site) | 178 | 178 | BINDING | Substrate. | might get lost (downstream of altered splice site) | 178 | 178 | MUTAGEN | E->A: Reduces activity by 99%. | might get lost (downstream of altered splice site) | 178 | 178 | ACT_SITE | | might get lost (downstream of altered splice site) | 189 | 210 | HELIX | | might get lost (downstream of altered splice site) | 218 | 229 | STRAND | | might get lost (downstream of altered splice site) | 235 | 237 | STRAND | | might get lost (downstream of altered splice site) | 241 | 243 | STRAND | | might get lost (downstream of altered splice site) | 245 | 249 | TURN | | might get lost (downstream of altered splice site) | 259 | 263 | STRAND | | might get lost (downstream of altered splice site) | 269 | 271 | STRAND | | might get lost (downstream of altered splice site) | 274 | 276 | STRAND | | might get lost (downstream of altered splice site) | 278 | 282 | STRAND | | might get lost (downstream of altered splice site) | 285 | 285 | MUTAGEN | E->D: 5-fold decrease in activity. | might get lost (downstream of altered splice site) | 286 | 288 | HELIX | | might get lost (downstream of altered splice site) | 288 | 288 | BINDING | Substrate. | might get lost (downstream of altered splice site) | 288 | 288 | MUTAGEN | Y->F: Reduces activity by 99%. | might get lost (downstream of altered splice site) | 289 | 292 | TURN | | might get lost (downstream of altered splice site) | 294 | 305 | STRAND | | 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 | 942 / 942 |
position (AA) of stopcodon in wt / mu AA sequence | 314 / 314 |
position of stopcodon in wt / mu cDNA | 1100 / 1100 |
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 | 159 / 159 |
chromosome | 17 |
strand | 1 |
last intron/exon boundary | 903 |
theoretical NMD boundary in CDS | 694 |
length of CDS | 942 |
coding sequence (CDS) position | 454 |
cDNA position (for ins/del: last normal base / first normal base) | 612 |
gDNA position (for ins/del: last normal base / first normal base) | 11147 |
chromosomal position (for ins/del: last normal base / first normal base) | 3386814 |
original gDNA sequence snippet | CTTCTCTGGCTCCACTACCCTGCTACGTTTATCTGATTGAG |
altered gDNA sequence snippet | CTTCTCTGGCTCCACTACCCCGCTACGTTTATCTGATTGAG |
original cDNA sequence snippet | CTTCTCTGGCTCCACTACCCTGCTACGTTTATCTGATTGAG |
altered cDNA sequence snippet | CTTCTCTGGCTCCACTACCCCGCTACGTTTATCTGATTGAG |
wildtype AA sequence | MTSCHIAEEH IQKVAIFGGT HGNELTGVFL VKHWLENGAE IQRTGLEVKP FITNPRAVKK CTRYIDCDLN RIFDLENLGK KMSEDLPYEV RRAQEINHLF GPKDSEDSYD IIFDLHNTTS NMGCTLILED SRNNFLIQMF HYIKTSLAPL PCYVYLIEHP SLKYATTRSI AKYPVGIEVG PQPQGVLRAD ILDQMRKMIK HALDFIHHFN EGKEFPPCAI EVYKIIEKVD YPRDENGEIA AIIHPNLQDQ DWKPLHPGDP MFLTLDGKTI PLGGDCTVYP VFVNEAAYYE KKEAFAKTTK LTLNAKSIRC CLH* |
mutated AA sequence | MTSCHIAEEH IQKVAIFGGT HGNELTGVFL VKHWLENGAE IQRTGLEVKP FITNPRAVKK CTRYIDCDLN RIFDLENLGK KMSEDLPYEV RRAQEINHLF GPKDSEDSYD IIFDLHNTTS NMGCTLILED SRNNFLIQMF HYIKTSLAPL PRYVYLIEHP SLKYATTRSI AKYPVGIEVG PQPQGVLRAD ILDQMRKMIK HALDFIHHFN EGKEFPPCAI EVYKIIEKVD YPRDENGEIA AIIHPNLQDQ DWKPLHPGDP MFLTLDGKTI PLGGDCTVYP VFVNEAAYYE KKEAFAKTTK LTLNAKSIRC CLH* |
speed | 0.86 s |
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