Prediction |
disease causing |
Model: simple_aae, prob: 0.999999999093103 (classification due to ClinVar,
real probability is shown anyway)
(explain) |
Summary |
- amino acid sequence changed
- known disease mutation at this position (HGMD CM060201)
- known disease mutation: rs2616 (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) | chr17:3379665G>AN/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.212G>A cDNA.370G>A g.3998G>A |
AA changes | R71H Score: 29 explain score(s) |
position(s) of altered AA if AA alteration in CDS | 71 |
frameshift | no |
known variant | Reference ID: rs104894553
database | homozygous (A/A) | heterozygous | allele carriers |
1000G | - | - | - |
ExAC | 0 | 23 | 23 |
known disease mutation: rs2616 (pathogenic for Spongy degeneration of central nervous system|Canavan disease, mild|not provided) dbSNP
NCBI variation viewer known disease mutation at this position, please check HGMD for details (HGMD ID CM060201)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060201) known disease mutation at this position, please check HGMD for details (HGMD ID CM060201)
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regulatory features | H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation H2AZ, Histone, Histone 2A variant Z H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | 4.123 | 1 | | 5.934 | 1 | (flanking) | 0.051 | 0.995 | 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 | Donor gained | 3994 | 0.44 | mu: ACCTGAATCACATTT | CTGA|atca |
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distance from splice site | 25 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | species | match | gene | aa | alignment | Human | | | 71 | K | C | T | R | Y | I | D | C | D | L | N | R | I | F | D | L | E | N | L | G | K | K | M | S |
mutated | not conserved | | 71 | | C | T | R | Y | I | D | C | D | L | N | H | I | F | D | L | E | N | L | G | K | K | M |
Ptroglodytes | all identical | ENSPTRG00000008568 | 71 | | C | T | R | Y | I | D | C | D | L | N | R | I | F | D | L | E | N | L | G | K | K | M |
Mmulatta | all identical | ENSMMUG00000030388 | 71 | | C | T | R | Y | I | D | C | D | L | N | R | I | F | D | L | E | N | L | G | K | K | M |
Fcatus | all identical | ENSFCAG00000007919 | 71 | | C | T | R | Y | I | D | C | D | L | N | R | V | F | D | P | E | S | L | G | | | |
Mmusculus | all identical | ENSMUSG00000020774 | 70 | | C | T | R | Y | I | D | C | D | L | N | R | V | F | D | L | E | N | L | S | K | E | M |
Ggallus | all identical | ENSGALG00000004669 | 72 | K | C | T | R | Y | I | D | C | D | L | N | R | V | F | D | P | D | N | L | G | Q | T | V |
Trubripes | no homologue | | | |
Drerio | all identical | ENSDARG00000005154 | 73 | | | | | | | | | | L | N | R | A | F | T | P | E | N | L | S | A | S | E |
Dmelanogaster | no homologue | | | |
Celegans | no homologue | | | |
Xtropicalis | all identical | ENSXETG00000005789 | 70 | | | | | | | | | | | | R | V | F | D | S | E | N | L | R | N | E | N |
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protein features | start (aa) | end (aa) | feature | details | | 69 | 71 | HELIX | | lost | 70 | 71 | REGION | Substrate binding. | lost | 71 | 71 | MUTAGEN | R->K: Reduces activity by 99%. | lost | 75 | 78 | HELIX | | might get lost (downstream of altered splice site) | 88 | 100 | HELIX | | might get lost (downstream of altered splice site) | 105 | 108 | STRAND | | might get lost (downstream of altered splice site) | 110 | 117 | STRAND | | might get lost (downstream of altered splice site) | 116 | 116 | METAL | Zinc. | might get lost (downstream of altered splice site) | 119 | 121 | STRAND | | might get lost (downstream of altered splice site) | 123 | 129 | STRAND | | might get lost (downstream of altered splice site) | 134 | 147 | HELIX | | might get lost (downstream of altered splice site) | 152 | 156 | STRAND | | might get lost (downstream of altered splice site) | 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->A: Reduces activity by 99%. | 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 | 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 | 212 |
cDNA position (for ins/del: last normal base / first normal base) | 370 |
gDNA position (for ins/del: last normal base / first normal base) | 3998 |
chromosomal position (for ins/del: last normal base / first normal base) | 3379665 |
original gDNA sequence snippet | TATTGACTGTGACCTGAATCGCATTTTTGACCTTGAAAATC |
altered gDNA sequence snippet | TATTGACTGTGACCTGAATCACATTTTTGACCTTGAAAATC |
original cDNA sequence snippet | TATTGACTGTGACCTGAATCGCATTTTTGACCTTGAAAATC |
altered cDNA sequence snippet | TATTGACTGTGACCTGAATCACATTTTTGACCTTGAAAATC |
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 HIFDLENLGK KMSEDLPYEV RRAQEINHLF GPKDSEDSYD IIFDLHNTTS NMGCTLILED SRNNFLIQMF HYIKTSLAPL PCYVYLIEHP SLKYATTRSI AKYPVGIEVG PQPQGVLRAD ILDQMRKMIK HALDFIHHFN EGKEFPPCAI EVYKIIEKVD YPRDENGEIA AIIHPNLQDQ DWKPLHPGDP MFLTLDGKTI PLGGDCTVYP VFVNEAAYYE KKEAFAKTTK LTLNAKSIRC CLH* |
speed | 1.21 s |
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