Prediction |
disease causing |
Model: simple_aae, prob: 0.999999999183087
(explain) |
| Summary |
- amino acid sequence changed
- known as potential disease variant: rs92 (probable pathogenic)
- known disease mutation at this position (HGMD CM993321)
- protein features (might be) affected
- splice site changes
|
hyperlink |
| analysed issue |
analysis result |
| name of alteration | no title |
| alteration (phys. location) | chr8:17922010T>AN/A
show variant in all transcripts IGV
|
| HGNC symbol | ASAH1 |
| Ensembl transcript ID | ENST00000381733 |
| Genbank transcript ID | NM_004315 |
| UniProt peptide | Q13510 |
| alteration type | single base exchange |
| alteration region | CDS |
| DNA changes | c.461A>T
cDNA.628A>T
g.20485A>T |
| AA changes | E154V Score: 121 explain score(s) |
position(s) of altered AA
if AA alteration in CDS | 154 |
| frameshift | no |
| known variant | Reference ID: rs137853594
Allele 'A' was neither found in ExAC nor 1000G.
known as potential disease variant: rs92 (probable pathogenic for Farber disease|not provided) dbSNP
NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM993321)
known disease mutation at this position, please check HGMD for details (HGMD ID CM993321)
known disease mutation at this position, please check HGMD for details (HGMD ID CM993321)
|
| regulatory features | H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation |
| phyloP / phastCons | | PhyloP | PhastCons |
| (flanking) | 0.191 | 0.144 | | 4.578 | 0.998 | | (flanking) | 5.531 | 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 | 20492 | wt: 0.46 / mu: 0.87 | wt: AATATTTTTTATGAATTATTTACCATTTGTACTTCAATAGT
mu: AATATTTTTTATGTATTATTTACCATTTGTACTTCAATAGT | attt|ACCA | | Acc increased | 20496 | wt: 0.70 / mu: 0.90 | wt: TTTTTTATGAATTATTTACCATTTGTACTTCAATAGTAGCA
mu: TTTTTTATGTATTATTTACCATTTGTACTTCAATAGTAGCA | acca|TTTG | | Acc marginally increased | 20478 | wt: 0.4093 / mu: 0.4334 (marginal change - not scored) | wt: AGATTATTTCATTCAATATTTTTTATGAATTATTTACCATT
mu: AGATTATTTCATTCAATATTTTTTATGTATTATTTACCATT | attt|TTTA | | Acc marginally increased | 20485 | wt: 0.9366 / mu: 0.9401 (marginal change - not scored) | wt: TTCATTCAATATTTTTTATGAATTATTTACCATTTGTACTT
mu: TTCATTCAATATTTTTTATGTATTATTTACCATTTGTACTT | atga|ATTA | | Acc marginally increased | 20476 | wt: 0.5256 / mu: 0.5360 (marginal change - not scored) | wt: AGAGATTATTTCATTCAATATTTTTTATGAATTATTTACCA
mu: AGAGATTATTTCATTCAATATTTTTTATGTATTATTTACCA | atat|TTTT | | Acc increased | 20481 | wt: 0.41 / mu: 0.45 | wt: TTATTTCATTCAATATTTTTTATGAATTATTTACCATTTGT
mu: TTATTTCATTCAATATTTTTTATGTATTATTTACCATTTGT | tttt|ATGA | | Acc marginally increased | 20483 | wt: 0.9218 / mu: 0.9730 (marginal change - not scored) | wt: ATTTCATTCAATATTTTTTATGAATTATTTACCATTTGTAC
mu: ATTTCATTCAATATTTTTTATGTATTATTTACCATTTGTAC | ttat|GAAT | | Acc increased | 20489 | wt: 0.35 / mu: 0.91 | wt: TTCAATATTTTTTATGAATTATTTACCATTTGTACTTCAAT
mu: TTCAATATTTTTTATGTATTATTTACCATTTGTACTTCAAT | atta|TTTA | | Acc gained | 20487 | 0.42 | mu: CATTCAATATTTTTTATGTATTATTTACCATTTGTACTTCA | gtat|TATT | | Acc gained | 20495 | 0.43 | mu: ATTTTTTATGTATTATTTACCATTTGTACTTCAATAGTAGC | tacc|ATTT | | Acc gained | 20490 | 0.69 | mu: TCAATATTTTTTATGTATTATTTACCATTTGTACTTCAATA | ttat|TTAC | | Acc gained | 20494 | 0.44 | mu: TATTTTTTATGTATTATTTACCATTTGTACTTCAATAGTAG | ttac|CATT | | Donor gained | 20478 | 0.38 | mu: ATATTTTTTATGTAT | ATTT|ttta |
|
| distance from splice site | 31 |
| Kozak consensus sequence altered? | N/A |
conservation
protein level for non-synonymous changes | | species | match | gene | aa | alignment | | Human | | | 154 | L | G | E | I | I | S | F | N | I | F | Y | E | L | F | T | I | C | T | S | I | V | A | E | D |
| mutated | not conserved | | 154 | L | G | E | I | I | S | F | N | I | F | Y | V | L | F | T | I | C | T | S | I | V | A | E |
| Ptroglodytes | all identical | ENSPTRG00000020027 | 138 | L | G | E | I | I | S | F | N | I | F | Y | E | L | F | T | I | C | T | S | I | | | |
| Mmulatta | all identical | ENSMMUG00000015497 | 154 | L | G | E | I | I | S | Y | N | I | F | Y | E | F | F | T | L | C | T | S | I | V | A | E |
| Fcatus | no homologue | | | |
| Mmusculus | all identical | ENSMUSG00000031591 | 137 | L | G | E | I | I | S | F | N | I | F | Y | E | L | F | T | M | C | T | S | I | | | |
| Ggallus | all identical | ENSGALG00000013599 | 138 | L | G | E | I | V | I | F | N | I | F | Y | E | I | F | T | V | C | T | S | I | V | A | |
| Trubripes | all identical | ENSTRUG00000016165 | 144 | L | G | E | V | V | L | F | N | I | F | Y | E | V | F | T | V | C | T | S | I | V | A | E |
| Drerio | all identical | ENSDARG00000037091 | 134 | L | G | E | I | A | L | F | N | I | F | Y | E | V | F | T | | | | | | | | |
| Dmelanogaster | no homologue | | | |
| Celegans | all identical | K11D2.2 | 137 | L | G | Q | I | T | M | Y | N | I | F | Y | E | I | F | T | V | C | T | S | V | I | A | Q |
| Xtropicalis | all identical | ENSXETG00000012463 | 140 | L | G | E | V | M | L | F | N | I | F | Y | E | V | F | T | V | C | T | S | V | | | |
|
| protein features | | start (aa) | end (aa) | feature | details | | | 155 | 155 | CONFLICT | L -> P (in Ref. 4; AAQ75550). | might get lost (downstream of altered splice site) | | 173 | 173 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | | 195 | 195 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | | 233 | 233 | CONFLICT | Y -> N (in Ref. 4; AAQ75550). | might get lost (downstream of altered splice site) | | 259 | 259 | CARBOHYD | N-linked (GlcNAc...). | might get lost (downstream of altered splice site) | | 286 | 286 | CARBOHYD | N-linked (GlcNAc...). | might get lost (downstream of altered splice site) | | 342 | 342 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | | 348 | 348 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | | 364 | 364 | CONFLICT | L -> P (in Ref. 4; AAQ75550). | might get lost (downstream of altered splice site) |
|
| length of protein | normal |
| AA sequence altered | yes |
| position of stopcodon in wt / mu CDS | 1236 / 1236 |
| position (AA) of stopcodon in wt / mu AA sequence | 412 / 412 |
| position of stopcodon in wt / mu cDNA | 1403 / 1403 |
| 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 | 168 / 168 |
| chromosome | 8 |
| strand | -1 |
| last intron/exon boundary | 1314 |
| theoretical NMD boundary in CDS | 1096 |
| length of CDS | 1236 |
| coding sequence (CDS) position | 461 |
cDNA position
(for ins/del: last normal base / first normal base) | 628 |
gDNA position
(for ins/del: last normal base / first normal base) | 20485 |
chromosomal position
(for ins/del: last normal base / first normal base) | 17922010 |
| original gDNA sequence snippet | TTCATTCAATATTTTTTATGAATTATTTACCATTTGTACTT |
| altered gDNA sequence snippet | TTCATTCAATATTTTTTATGTATTATTTACCATTTGTACTT |
| original cDNA sequence snippet | TTCATTCAATATTTTTTATGAATTATTTACCATTTGTACTT |
| altered cDNA sequence snippet | TTCATTCAATATTTTTTATGTATTATTTACCATTTGTACTT |
| wildtype AA sequence | MNCCIGLGEK ARGSHRASYP SLSALFTEAS ILGFGSFAVK AQWTEDCRKS TYPPSGPTYR
GAVPWYTINL DLPPYKRWHE LMLDKAPVLK VIVNSLKNMI NTFVPSGKIM QVVDEKLPGL
LGNFPGPFEE EMKGIAAVTD IPLGEIISFN IFYELFTICT SIVAEDKKGH LIHGRNMDFG
VFLGWNINND TWVITEQLKP LTVNLDFQRN NKTVFKASSF AGYVGMLTGF KPGLFSLTLN
ERFSINGGYL GILEWILGKK DVMWIGFLTR TVLENSTSYE EAKNLLTKTK ILAPAYFILG
GNQSGEGCVI TRDRKESLDV YELDAKQGRW YVVQTNYDRW KHPFFLDDRR TPAKMCLNRT
SQENISFETM YDVLSTKPVL NKLTVYTTLI DVTKGQFETY LRDCPDPCIG W* |
| mutated AA sequence | MNCCIGLGEK ARGSHRASYP SLSALFTEAS ILGFGSFAVK AQWTEDCRKS TYPPSGPTYR
GAVPWYTINL DLPPYKRWHE LMLDKAPVLK VIVNSLKNMI NTFVPSGKIM QVVDEKLPGL
LGNFPGPFEE EMKGIAAVTD IPLGEIISFN IFYVLFTICT SIVAEDKKGH LIHGRNMDFG
VFLGWNINND TWVITEQLKP LTVNLDFQRN NKTVFKASSF AGYVGMLTGF KPGLFSLTLN
ERFSINGGYL GILEWILGKK DVMWIGFLTR TVLENSTSYE EAKNLLTKTK ILAPAYFILG
GNQSGEGCVI TRDRKESLDV YELDAKQGRW YVVQTNYDRW KHPFFLDDRR TPAKMCLNRT
SQENISFETM YDVLSTKPVL NKLTVYTTLI DVTKGQFETY LRDCPDPCIG W* |
| speed | 0.89 s |
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