Prediction |
disease causing |
Model: simple_aae, prob: 0.980523950027478 (classification due to ClinVar,
real probability is shown anyway)
(explain) |
| Summary |
- amino acid sequence changed
- known disease mutation at this position (HGMD CM023571)
- known disease mutation: rs7760 (pathogenic)
- protein features (might be) affected
- splice site changes
|
hyperlink |
| analysed issue |
analysis result |
| name of alteration | no title |
| alteration (phys. location) | chr2:202141631C>TN/A
show variant in all transcripts IGV
|
| HGNC symbol | CASP8 |
| Ensembl transcript ID | ENST00000432109 |
| Genbank transcript ID | NM_033355 |
| UniProt peptide | Q14790 |
| alteration type | single base exchange |
| alteration region | CDS |
| DNA changes | c.742C>T
cDNA.931C>T
g.43466C>T |
| AA changes | R248W Score: 101 explain score(s) |
position(s) of altered AA
if AA alteration in CDS | 248 |
| frameshift | no |
| known variant | Reference ID: rs17860424
| database | homozygous (T/T) | heterozygous | allele carriers |
| 1000G | - | - | - |
| ExAC | 0 | 2 | 2 |
known disease mutation: rs7760 (pathogenic for Autoimmune lymphoproliferative syndrome type 2B) dbSNP
NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)
known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)
known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)
|
| regulatory features | H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation |
| phyloP / phastCons | | PhyloP | PhastCons |
| (flanking) | 0.229 | 0.945 | | 0.654 | 0.941 | | (flanking) | 2.834 | 0.936 |
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 increased | 43462 | wt: 0.23 / mu: 0.57 | wt: GCAAAAGCACGGGAG
mu: GCAAAAGCATGGGAG | AAAA|gcac | | Donor marginally increased | 43469 | wt: 0.9913 / mu: 0.9916 (marginal change - not scored) | wt: CACGGGAGAAAGTGC
mu: CATGGGAGAAAGTGC | CGGG|agaa | | Donor increased | 43470 | wt: 0.34 / mu: 0.38 | wt: ACGGGAGAAAGTGCC
mu: ATGGGAGAAAGTGCC | GGGA|gaaa |
|
| distance from splice site | 61 |
| Kozak consensus sequence altered? | N/A |
conservation
protein level for non-synonymous changes | | species | match | gene | aa | alignment | | Human | | | 248 | L | I | I | N | N | H | N | F | A | K | A | R | E | K | V | P | K | L | H | S | I | R | D | R |
| mutated | not conserved | | 248 | | | | | N | H | N | F | A | K | A | W | E | K | V | P | K | L | H | S | I | R | D |
| Ptroglodytes | all identical | ENSPTRG00000012801 | 307 | | | | | N | H | N | F | A | K | A | R | E | K | V | P | K | L | H | S | I | R | D |
| Mmulatta | all identical | ENSMMUG00000031296 | 307 | | | | | N | Y | D | F | T | K | A | R | E | K | V | P | K | L | H | S | I | R | D |
| Fcatus | no homologue | | | |
| Mmusculus | all identical | ENSMUSG00000026029 | 250 | L | I | I | N | N | H | D | F | S | K | A | R | E | D | I | T | Q | L | R | K | M | K | D |
| Ggallus | all identical | ENSGALG00000008355 | 251 | L | I | L | N | N | H | N | F | A | K | A | R | E | A | V | P | E | L | R | R | M | K | D |
| Trubripes | not conserved | ENSTRUG00000009617 | 133 | V | I | I | N | N | E | N | F | L | - | - | - | - | - | - | - | - | - | - | D | M | K | Q |
| Drerio | no homologue | | | |
| Dmelanogaster | not conserved | FBgn0019972 | 108 | L | I | F | N | H | E | H | F | - | - | - | - | - | E | V | P | T | L | K | S | - | - | - |
| Celegans | no homologue | | | |
| Xtropicalis | no homologue | | | |
|
| protein features | | start (aa) | end (aa) | feature | details | | | 246 | 249 | HELIX | | lost | | 252 | 254 | HELIX | | might get lost (downstream of altered splice site) | | 255 | 257 | STRAND | | might get lost (downstream of altered splice site) | | 263 | 276 | HELIX | | might get lost (downstream of altered splice site) | | 280 | 286 | STRAND | | might get lost (downstream of altered splice site) | | 289 | 301 | HELIX | | might get lost (downstream of altered splice site) | | 294 | 294 | CONFLICT | E -> D (in Ref. 5; AAD24962). | might get lost (downstream of altered splice site) | | 310 | 316 | STRAND | | might get lost (downstream of altered splice site) | | 317 | 317 | ACT_SITE | | might get lost (downstream of altered splice site) | | 322 | 324 | STRAND | | might get lost (downstream of altered splice site) | | 326 | 328 | STRAND | | might get lost (downstream of altered splice site) | | 330 | 332 | STRAND | | might get lost (downstream of altered splice site) | | 331 | 331 | CONFLICT | A -> P (in Ref. 2; AAC50602 and 5; AAD24962). | might get lost (downstream of altered splice site) | | 333 | 337 | HELIX | | might get lost (downstream of altered splice site) | | 334 | 334 | MOD_RES | Phosphotyrosine. | might get lost (downstream of altered splice site) | | 338 | 340 | HELIX | | might get lost (downstream of altered splice site) | | 342 | 344 | TURN | | might get lost (downstream of altered splice site) | | 343 | 344 | CONFLICT | LK -> FG (in Ref. 8; AAL87631). | might get lost (downstream of altered splice site) | | 346 | 348 | HELIX | | might get lost (downstream of altered splice site) | | 353 | 359 | STRAND | | might get lost (downstream of altered splice site) | | 360 | 360 | ACT_SITE | | might get lost (downstream of altered splice site) | | 362 | 364 | STRAND | | might get lost (downstream of altered splice site) | | 375 | 384 | PROPEP | /FTId=PRO_0000004630. | might get lost (downstream of altered splice site) | | 377 | 379 | STRAND | | might get lost (downstream of altered splice site) | | 387 | 387 | MUTAGEN | S->A: Impaired CDK1-mediated phosphorylation and enhanced apoptosis. | might get lost (downstream of altered splice site) | | 387 | 387 | MOD_RES | Phosphoserine; by CDK1. | might get lost (downstream of altered splice site) | | 395 | 405 | STRAND | | might get lost (downstream of altered splice site) | | 412 | 414 | STRAND | | might get lost (downstream of altered splice site) | | 415 | 417 | TURN | | might get lost (downstream of altered splice site) | | 420 | 432 | HELIX | | might get lost (downstream of altered splice site) | | 433 | 435 | HELIX | | might get lost (downstream of altered splice site) | | 439 | 451 | HELIX | | might get lost (downstream of altered splice site) | | 456 | 459 | TURN | | might get lost (downstream of altered splice site) | | 465 | 468 | STRAND | | might get lost (downstream of altered splice site) | | 471 | 473 | STRAND | | might get lost (downstream of altered splice site) |
|
| length of protein | normal |
| AA sequence altered | yes |
| position of stopcodon in wt / mu CDS | 1440 / 1440 |
| position (AA) of stopcodon in wt / mu AA sequence | 480 / 480 |
| position of stopcodon in wt / mu cDNA | 1629 / 1629 |
| 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 | 190 / 190 |
| chromosome | 2 |
| strand | 1 |
| last intron/exon boundary | 1494 |
| theoretical NMD boundary in CDS | 1254 |
| length of CDS | 1440 |
| coding sequence (CDS) position | 742 |
cDNA position
(for ins/del: last normal base / first normal base) | 931 |
gDNA position
(for ins/del: last normal base / first normal base) | 43466 |
chromosomal position
(for ins/del: last normal base / first normal base) | 202141631 |
| original gDNA sequence snippet | ATCACAATTTTGCAAAAGCACGGGAGAAAGTGCCCAAACTT |
| altered gDNA sequence snippet | ATCACAATTTTGCAAAAGCATGGGAGAAAGTGCCCAAACTT |
| original cDNA sequence snippet | ATCACAATTTTGCAAAAGCACGGGAGAAAGTGCCCAAACTT |
| altered cDNA sequence snippet | ATCACAATTTTGCAAAAGCATGGGAGAAAGTGCCCAAACTT |
| wildtype AA sequence | MDFSRNLYDI GEQLDSEDLA SLKFLSLDYI PQRKQEPIKD ALMLFQRLQE KRMLEESNLS
FLKELLFRIN RLDLLITYLN TRKEEMEREL QTPGRAQISA YRVMLYQISE EVSRSELRSF
KFLLQEEISK CKLDDDMNLL DIFIEMEKRV ILGEGKLDIL KRVCAQINKS LLKIINDYEE
FSKERSSSLE GSPDEFSNGE ELCGVMTISD SPREQDSESQ TLDKVYQMKS KPRGYCLIIN
NHNFAKAREK VPKLHSIRDR NGTHLDAGAL TTTFEELHFE IKPHDDCTVE QIYEILKIYQ
LMDHSNMDCF ICCILSHGDK GIIYGTDGQE APIYELTSQF TGLKCPSLAG KPKVFFIQAC
QGDNYQKGIP VETDSEEQPY LEMDLSSPQT RYIPDEADFL LGMATVNNCV SYRNPAEGTW
YIQSLCQSLR ERCPRGDDIL TILTEVNYEV SNKDDKKNMG KQMPQPTFTL RKKLVFPSD* |
| mutated AA sequence | MDFSRNLYDI GEQLDSEDLA SLKFLSLDYI PQRKQEPIKD ALMLFQRLQE KRMLEESNLS
FLKELLFRIN RLDLLITYLN TRKEEMEREL QTPGRAQISA YRVMLYQISE EVSRSELRSF
KFLLQEEISK CKLDDDMNLL DIFIEMEKRV ILGEGKLDIL KRVCAQINKS LLKIINDYEE
FSKERSSSLE GSPDEFSNGE ELCGVMTISD SPREQDSESQ TLDKVYQMKS KPRGYCLIIN
NHNFAKAWEK VPKLHSIRDR NGTHLDAGAL TTTFEELHFE IKPHDDCTVE QIYEILKIYQ
LMDHSNMDCF ICCILSHGDK GIIYGTDGQE APIYELTSQF TGLKCPSLAG KPKVFFIQAC
QGDNYQKGIP VETDSEEQPY LEMDLSSPQT RYIPDEADFL LGMATVNNCV SYRNPAEGTW
YIQSLCQSLR ERCPRGDDIL TILTEVNYEV SNKDDKKNMG KQMPQPTFTL RKKLVFPSD* |
| speed | 1.34 s |
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