Prediction |
disease causing |
Model: simple_aae, prob: 0.419637078061658 (classification due to ClinVar,
real probability is shown anyway)
(explain) |
Summary |
- amino acid sequence changed
- known disease mutation at this position (HGMD CM950009)
- known disease mutation: rs2845 (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) | chr11:108014766G>CN/A
show variant in all transcripts IGV
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HGNC symbol | ACAT1 |
Ensembl transcript ID | ENST00000265838 |
Genbank transcript ID | NM_000019 |
UniProt peptide | P24752 |
alteration type | single base exchange |
alteration region | CDS |
DNA changes | c.997G>C cDNA.1088G>C g.22524G>C |
AA changes | A333P Score: 27 explain score(s) |
position(s) of altered AA if AA alteration in CDS | 333 |
frameshift | no |
known variant | Reference ID: rs120074147
Allele 'C' was neither found in ExAC nor 1000G. known disease mutation: rs2845 (pathogenic for Deficiency of acetyl-CoA acetyltransferase) dbSNP
NCBI variation viewer known disease mutation at this position, please check HGMD for details (HGMD ID CM950009)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950009) known disease mutation at this position, please check HGMD for details (HGMD ID CM950009)
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regulatory features | H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | 0.463 | 1 | | 4.418 | 1 | (flanking) | 3.474 | 0.997 | 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 | 22525 | wt: 0.7618 / mu: 0.7850 (marginal change - not scored) | wt: AATTGCTCCTGTATATGCTGCATCTATGGTGAGAACAAAGT mu: AATTGCTCCTGTATATGCTCCATCTATGGTGAGAACAAAGT | ctgc|ATCT | Acc increased | 22532 | wt: 0.27 / mu: 0.55 | wt: CCTGTATATGCTGCATCTATGGTGAGAACAAAGTGAGGGGC mu: CCTGTATATGCTCCATCTATGGTGAGAACAAAGTGAGGGGC | tatg|GTGA | Acc increased | 22529 | wt: 0.21 / mu: 0.80 | wt: GCTCCTGTATATGCTGCATCTATGGTGAGAACAAAGTGAGG mu: GCTCCTGTATATGCTCCATCTATGGTGAGAACAAAGTGAGG | atct|ATGG | Acc marginally increased | 22522 | wt: 0.4875 / mu: 0.5415 (marginal change - not scored) | wt: TCCAATTGCTCCTGTATATGCTGCATCTATGGTGAGAACAA mu: TCCAATTGCTCCTGTATATGCTCCATCTATGGTGAGAACAA | atgc|TGCA | Acc marginally increased | 22518 | wt: 0.3841 / mu: 0.3971 (marginal change - not scored) | wt: ATTTTCCAATTGCTCCTGTATATGCTGCATCTATGGTGAGA mu: ATTTTCCAATTGCTCCTGTATATGCTCCATCTATGGTGAGA | gtat|ATGC | Acc marginally increased | 22527 | wt: 0.7195 / mu: 0.7785 (marginal change - not scored) | wt: TTGCTCCTGTATATGCTGCATCTATGGTGAGAACAAAGTGA mu: TTGCTCCTGTATATGCTCCATCTATGGTGAGAACAAAGTGA | gcat|CTAT | Acc gained | 22533 | 0.60 | mu: CTGTATATGCTCCATCTATGGTGAGAACAAAGTGAGGGGCG | atgg|TGAG | Donor gained | 22526 | 0.42 | mu: GCTCCATCTATGGTG | TCCA|tcta |
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distance from splice site | 9 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | species | match | gene | aa | alignment | Human | | | 333 | P | I | D | F | P | I | A | P | V | Y | A | A | S | M | V | L | K | D | V | G | L | K | K | E |
mutated | not conserved | | 333 | P | I | D | F | P | I | A | P | V | Y | A | P | S | M | V | L | K | D | V | G | L | K | K |
Ptroglodytes | all identical | ENSPTRG00000004247 | 333 | P | I | D | F | P | I | A | P | V | Y | A | A | S | M | V | L | K | D | V | G | L | K | K |
Mmulatta | not conserved | ENSMMUG00000004161 | 333 | P | I | D | F | P | I | A | P | V | H | A | V | S | M | V | L | K | D | V | G | L | K | K |
Fcatus | not conserved | ENSFCAG00000012428 | 333 | P | I | D | F | P | V | A | P | A | Y | A | V | P | K | V | L | K | D | A | G | L | K | K |
Mmusculus | not conserved | ENSMUSG00000032047 | 330 | P | I | D | F | P | L | A | P | A | Y | A | V | P | K | V | L | K | Y | A | G | L | K | K |
Ggallus | not conserved | ENSGALG00000017163 | 315 | | | D | F | P | I | A | P | A | H | A | V | P | K | I | L | S | E | T | G | L | K | K |
Trubripes | no homologue | | | |
Drerio | not conserved | ENSDARG00000045888 | 326 | P | I | D | F | P | I | A | P | A | F | A | V | P | K | V | L | K | A | A | G | I | K | K |
Dmelanogaster | not conserved | FBgn0029969 | 316 | P | I | D | F | P | I | A | P | A | L | A | I | P | K | L | L | K | R | A | G | V | R | K |
Celegans | not conserved | T02G5.8 | 313 | P | L | D | F | A | V | A | P | T | L | M | F | P | K | I | L | E | R | | | | | |
Xtropicalis | not conserved | ENSXETG00000014477 | 326 | P | I | D | F | P | I | A | P | A | Y | A | V | P | K | L | L | S | E | A | G | L | K | K |
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protein features | start (aa) | end (aa) | feature | details | | 328 | 340 | HELIX | | lost | 338 | 338 | MOD_RES | N6-acetyllysine (By similarity). | might get lost (downstream of altered splice site) | 340 | 340 | CONFLICT | V -> M (in Ref. 2; BAA01387). | might get lost (downstream of altered splice site) | 344 | 346 | HELIX | | might get lost (downstream of altered splice site) | 346 | 346 | CONFLICT | D -> N (in Ref. 2; BAA01387). | might get lost (downstream of altered splice site) | 347 | 352 | STRAND | | might get lost (downstream of altered splice site) | 357 | 367 | HELIX | | might get lost (downstream of altered splice site) | 371 | 373 | HELIX | | might get lost (downstream of altered splice site) | 380 | 380 | CONFLICT | A -> S (in Ref. 2; BAA01387). | might get lost (downstream of altered splice site) | 380 | 383 | HELIX | | might get lost (downstream of altered splice site) | 381 | 381 | METAL | Potassium; via carbonyl oxygen. | might get lost (downstream of altered splice site) | 385 | 385 | ACT_SITE | Proton acceptor (Probable). | might get lost (downstream of altered splice site) | 387 | 389 | TURN | | might get lost (downstream of altered splice site) | 390 | 401 | HELIX | | might get lost (downstream of altered splice site) | 407 | 414 | STRAND | | might get lost (downstream of altered splice site) | 412 | 412 | CONFLICT | I -> F (in Ref. 2; BAA01387). | might get lost (downstream of altered splice site) | 413 | 413 | ACT_SITE | Proton acceptor (Probable). | might get lost (downstream of altered splice site) | 415 | 417 | TURN | | might get lost (downstream of altered splice site) | 418 | 426 | 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 | 1284 / 1284 |
position (AA) of stopcodon in wt / mu AA sequence | 428 / 428 |
position of stopcodon in wt / mu cDNA | 1375 / 1375 |
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 | 92 / 92 |
chromosome | 11 |
strand | 1 |
last intron/exon boundary | 1255 |
theoretical NMD boundary in CDS | 1113 |
length of CDS | 1284 |
coding sequence (CDS) position | 997 |
cDNA position (for ins/del: last normal base / first normal base) | 1088 |
gDNA position (for ins/del: last normal base / first normal base) | 22524 |
chromosomal position (for ins/del: last normal base / first normal base) | 108014766 |
original gDNA sequence snippet | CAATTGCTCCTGTATATGCTGCATCTATGGTGAGAACAAAG |
altered gDNA sequence snippet | CAATTGCTCCTGTATATGCTCCATCTATGGTGAGAACAAAG |
original cDNA sequence snippet | CAATTGCTCCTGTATATGCTGCATCTATGGTTCTTAAAGAT |
altered cDNA sequence snippet | CAATTGCTCCTGTATATGCTCCATCTATGGTTCTTAAAGAT |
wildtype AA sequence | MAVLAALLRS GARSRSPLLR RLVQEIRYVE RSYVSKPTLK EVVIVSATRT PIGSFLGSLS LLPATKLGSI AIQGAIEKAG IPKEEVKEAY MGNVLQGGEG QAPTRQAVLG AGLPISTPCT TINKVCASGM KAIMMASQSL MCGHQDVMVA GGMESMSNVP YVMNRGSTPY GGVKLEDLIV KDGLTDVYNK IHMGSCAENT AKKLNIARNE QDAYAINSYT RSKAAWEAGK FGNEVIPVTV TVKGQPDVVV KEDEEYKRVD FSKVPKLKTV FQKENGTVTA ANASTLNDGA AALVLMTADA AKRLNVTPLA RIVAFADAAV EPIDFPIAPV YAASMVLKDV GLKKEDIAMW EVNEAFSLVV LANIKMLEID PQKVNINGGA VSLGHPIGMS GARIVGHLTH ALKQGEYGLA SICNGGGGAS AMLIQKL* |
mutated AA sequence | MAVLAALLRS GARSRSPLLR RLVQEIRYVE RSYVSKPTLK EVVIVSATRT PIGSFLGSLS LLPATKLGSI AIQGAIEKAG IPKEEVKEAY MGNVLQGGEG QAPTRQAVLG AGLPISTPCT TINKVCASGM KAIMMASQSL MCGHQDVMVA GGMESMSNVP YVMNRGSTPY GGVKLEDLIV KDGLTDVYNK IHMGSCAENT AKKLNIARNE QDAYAINSYT RSKAAWEAGK FGNEVIPVTV TVKGQPDVVV KEDEEYKRVD FSKVPKLKTV FQKENGTVTA ANASTLNDGA AALVLMTADA AKRLNVTPLA RIVAFADAAV EPIDFPIAPV YAPSMVLKDV GLKKEDIAMW EVNEAFSLVV LANIKMLEID PQKVNINGGA VSLGHPIGMS GARIVGHLTH ALKQGEYGLA SICNGGGGAS AMLIQKL* |
speed | 1.50 s |
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