Prediction |
disease causing |
Model: simple_aae, prob: 0.999999894406135 (classification due to ClinVar,
real probability is shown anyway)
(explain) |
Summary |
- amino acid sequence changed
- known disease mutation at this position (HGMD CM025357)
- known disease mutation at this position (HGMD CM900105)
- known disease mutation: rs4319 (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) | chr1:155206119A>CN/A
show variant in all transcripts IGV
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HGNC symbol | GBA |
Ensembl transcript ID | ENST00000536770 |
Genbank transcript ID | N/A |
UniProt peptide | P04062 |
alteration type | single base exchange |
alteration region | CDS |
DNA changes | c.802T>G cDNA.916T>G g.8535T>G |
AA changes | C268G Score: 159 explain score(s) |
position(s) of altered AA if AA alteration in CDS | 268 |
frameshift | no |
known variant | Reference ID: rs121908306
Allele 'C' was neither found in ExAC nor 1000G. known disease mutation: rs4319 (pathogenic for Acute neuronopathic Gaucher's disease) dbSNP
NCBI variation viewer known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)
known disease mutation at this position, please check HGMD for details (HGMD ID CM900105) known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)
known disease mutation at this position, please check HGMD for details (HGMD ID CM900105) known disease mutation at this position, please check HGMD for details (HGMD ID CM025357) known disease mutation at this position, please check HGMD for details (HGMD ID CM025357)
known disease mutation at this position, please check HGMD for details (HGMD ID CM900105) known disease mutation at this position, please check HGMD for details (HGMD ID CM025357) known disease mutation at this position, please check HGMD for details (HGMD ID CM025357) known disease mutation at this position, please check HGMD for details (HGMD ID CM900105)
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regulatory features | H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | 4.346 | 1 | | 3.594 | 1 | (flanking) | 0.458 | 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 | 8527 | wt: 0.7574 / mu: 0.8371 (marginal change - not scored) | wt: CAACACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCA mu: CAACACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCA | cctc|AGAG | Acc marginally increased | 8530 | wt: 0.9011 / mu: 0.9329 (marginal change - not scored) | wt: CACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAGT mu: CACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAGT | caga|GGCC | Acc increased | 8529 | wt: 0.62 / mu: 0.69 | wt: ACACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAG mu: ACACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAG | tcag|AGGC | Acc increased | 8528 | wt: 0.56 / mu: 0.67 | wt: AACACCATGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAA mu: AACACCATGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAA | ctca|GAGG | Donor marginally increased | 8530 | wt: 0.6585 / mu: 0.6880 (marginal change - not scored) | wt: CTCAGAGGCCTGTGT mu: CTCAGAGGCCGGTGT | CAGA|ggcc |
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distance from splice site | 84 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | species | match | gene | aa | alignment | Human | | | 268 | F | P | N | T | M | L | F | A | S | E | A | C | V | G | S | K | F | W | E | Q | S | V | R | L |
mutated | not conserved | | 268 | F | P | N | T | M | L | F | A | S | E | A | G | V | G | S | K | F | W | E | Q | S | V | R |
Ptroglodytes | all identical | ENSPTRG00000001416 | 381 | F | P | N | T | M | L | F | A | S | E | A | C | V | G | S | K | F | W | E | Q | S | V | R |
Mmulatta | no homologue | | | |
Fcatus | no homologue | | | |
Mmusculus | all identical | ENSMUSG00000028048 | 360 | | | | | | | | | | E | A | C | V | G | S | K | F | W | E | Q | S | V | R |
Ggallus | no homologue | | | |
Trubripes | all identical | ENSTRUG00000010884 | 367 | Y | P | E | Y | Y | L | F | G | T | E | A | C | A | G | W | N | P | L | D | R | G | V | K |
Drerio | all identical | ENSDARG00000076058 | 363 | Y | P | D | Y | F | L | F | A | T | E | A | C | A | G | W | S | P | V | D | R | G | V | R |
Dmelanogaster | all identical | FBgn0051148 | 407 | A | P | D | K | I | L | I | V | S | E | S | C | I | G | D | K | P | W | | | | | |
Celegans | all identical | Y4C6B.6 | 364 | F | P | D | Y | F | L | L | A | T | E | A | C | A | G | - | Y | F | P | A | D | G | | |
Xtropicalis | no homologue | | | |
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protein features | start (aa) | end (aa) | feature | details | | 267 | 271 | STRAND | | lost | 274 | 274 | ACT_SITE | Proton donor. | might get lost (downstream of altered splice site) | 275 | 279 | HELIX | | might get lost (downstream of altered splice site) | 284 | 286 | STRAND | | might get lost (downstream of altered splice site) | 292 | 301 | HELIX | | might get lost (downstream of altered splice site) | 303 | 308 | HELIX | | might get lost (downstream of altered splice site) | 309 | 309 | CARBOHYD | N-linked (GlcNAc...). | might get lost (downstream of altered splice site) | 311 | 314 | TURN | | might get lost (downstream of altered splice site) | 315 | 323 | STRAND | | might get lost (downstream of altered splice site) | 324 | 326 | HELIX | | might get lost (downstream of altered splice site) | 329 | 335 | HELIX | | might get lost (downstream of altered splice site) | 338 | 341 | HELIX | | might get lost (downstream of altered splice site) | 346 | 352 | STRAND | | might get lost (downstream of altered splice site) | 354 | 356 | HELIX | | might get lost (downstream of altered splice site) | 359 | 369 | HELIX | | might get lost (downstream of altered splice site) | 373 | 381 | STRAND | | might get lost (downstream of altered splice site) | 379 | 379 | MUTAGEN | E->G: Decreases activity 1000-fold. | might get lost (downstream of altered splice site) | 379 | 379 | ACT_SITE | Nucleophile. | might get lost (downstream of altered splice site) | 386 | 388 | STRAND | | might get lost (downstream of altered splice site) | 396 | 411 | HELIX | | might get lost (downstream of altered splice site) | 414 | 424 | STRAND | | might get lost (downstream of altered splice site) | 426 | 428 | STRAND | | might get lost (downstream of altered splice site) | 440 | 444 | STRAND | | might get lost (downstream of altered splice site) | 445 | 447 | HELIX | | might get lost (downstream of altered splice site) | 449 | 452 | STRAND | | might get lost (downstream of altered splice site) | 454 | 463 | HELIX | | might get lost (downstream of altered splice site) | 470 | 470 | CONFLICT | S -> I (in Ref. 15; AA sequence). | might get lost (downstream of altered splice site) | 471 | 479 | STRAND | | might get lost (downstream of altered splice site) | 482 | 489 | STRAND | | might get lost (downstream of altered splice site) | 495 | 501 | STRAND | | might get lost (downstream of altered splice site) | 501 | 501 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | 503 | 505 | STRAND | | might get lost (downstream of altered splice site) | 507 | 513 | STRAND | | might get lost (downstream of altered splice site) | 514 | 516 | TURN | | might get lost (downstream of altered splice site) | 517 | 523 | STRAND | | might get lost (downstream of altered splice site) | 527 | 533 | STRAND | | might get lost (downstream of altered splice site) | 534 | 534 | CONFLICT | R -> H (in Ref. 1; AAA35873). | 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 | 1272 / 1272 |
position (AA) of stopcodon in wt / mu AA sequence | 424 / 424 |
position of stopcodon in wt / mu cDNA | 1386 / 1386 |
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 | 115 / 115 |
chromosome | 1 |
strand | -1 |
last intron/exon boundary | 1281 |
theoretical NMD boundary in CDS | 1116 |
length of CDS | 1272 |
coding sequence (CDS) position | 802 |
cDNA position (for ins/del: last normal base / first normal base) | 916 |
gDNA position (for ins/del: last normal base / first normal base) | 8535 |
chromosomal position (for ins/del: last normal base / first normal base) | 155206119 |
original gDNA sequence snippet | TGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAGTTCTGG |
altered gDNA sequence snippet | TGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAGTTCTGG |
original cDNA sequence snippet | TGCTCTTTGCCTCAGAGGCCTGTGTGGGCTCCAAGTTCTGG |
altered cDNA sequence snippet | TGCTCTTTGCCTCAGAGGCCGGTGTGGGCTCCAAGTTCTGG |
wildtype AA sequence | MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGI GYNIIRVPMA SCDFSIRTYT YADTPDDFQL HNFSLPEEDT KLKIPLIHRA LQLAQRPVSL LASPWTSPTW LKTNGAVNGK GSLKGQPGDI YHQTWARYFV KFLDAYAEHK LQFWAVTAEN EPSAGLLSGY PFQCLGFTPE HQRDFIARDL GPTLANSTHH NVRLLMLDDQ RLLLPHWAKV VLTDPEAAKY VHGIAVHWYL DFLAPAKATL GETHRLFPNT MLFASEACVG SKFWEQSVRL GSWDRGMQYS HSIITNLLYH VVGWTDWNLA LNPEGGPNWV RNFVDSPIIV DITKDTFYKQ PMFYHLGHFS KFIPEGSQRV GLVASQKNDL DAVALMHPDG SAVVVVLNRS SKDVPLTIKD PAVGFLETIS PGYSIHTYLW RRQ* |
mutated AA sequence | MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGI GYNIIRVPMA SCDFSIRTYT YADTPDDFQL HNFSLPEEDT KLKIPLIHRA LQLAQRPVSL LASPWTSPTW LKTNGAVNGK GSLKGQPGDI YHQTWARYFV KFLDAYAEHK LQFWAVTAEN EPSAGLLSGY PFQCLGFTPE HQRDFIARDL GPTLANSTHH NVRLLMLDDQ RLLLPHWAKV VLTDPEAAKY VHGIAVHWYL DFLAPAKATL GETHRLFPNT MLFASEAGVG SKFWEQSVRL GSWDRGMQYS HSIITNLLYH VVGWTDWNLA LNPEGGPNWV RNFVDSPIIV DITKDTFYKQ PMFYHLGHFS KFIPEGSQRV GLVASQKNDL DAVALMHPDG SAVVVVLNRS SKDVPLTIKD PAVGFLETIS PGYSIHTYLW RRQ* |
speed | 0.29 s |
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