Prediction |
disease causing |
Model: simple_aae, prob: 0.99999999998425 (classification due to ClinVar,
real probability is shown anyway)
(explain) |
Summary |
- amino acid sequence changed
- known disease mutation at this position (HGMD CM031666)
- known disease mutation: rs8790 (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) | chr11:47256859G>TN/A
show variant in all transcripts IGV
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HGNC symbol | DDB2 |
Ensembl transcript ID | ENST00000378603 |
Genbank transcript ID | N/A |
UniProt peptide | Q92466 |
alteration type | single base exchange |
alteration region | CDS |
DNA changes | c.727G>T cDNA.922G>T g.20367G>T |
AA changes | D243Y Score: 160 explain score(s) |
position(s) of altered AA if AA alteration in CDS | 243 |
frameshift | no |
known variant | Reference ID: rs121434642
Allele 'T' was neither found in ExAC nor 1000G. known disease mutation: rs8790 (pathogenic for Xeroderma pigmentosum, group E) dbSNP
NCBI variation viewer known disease mutation at this position, please check HGMD for details (HGMD ID CM031666)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031666) known disease mutation at this position, please check HGMD for details (HGMD ID CM031666)
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regulatory features | DNase1, Open Chromatin, DNase1 Hypersensitive Site H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation H4K91ac, Histone, Histone 4 Lysine 91 Acetylation PolII, Polymerase, RNA Polymerase II |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | -1.847 | 0.064 | | 6.262 | 1 | (flanking) | 5.171 | 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 | 20365 | wt: 0.20 / mu: 0.44 | wt: TGGAGCCCGGCTCCTGACCACGGACCAGAAGAGCGAGATCC mu: TGGAGCCCGGCTCCTGACCACGTACCAGAAGAGCGAGATCC | ccac|GGAC | Donor increased | 20360 | wt: 0.31 / mu: 0.92 | wt: CTCCTGACCACGGAC mu: CTCCTGACCACGTAC | CCTG|acca | Acc gained | 20371 | 0.53 | mu: CCGGCTCCTGACCACGTACCAGAAGAGCGAGATCCGAGTTT | acca|GAAG |
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distance from splice site | 39 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | species | match | gene | aa | alignment | Human | | | 243 | F | S | P | D | G | A | R | L | L | T | T | D | Q | K | S | E | I | R | V | Y | S | A | S | Q |
mutated | not conserved | | 243 | | | | | | | | | | T | T | Y | Q | K | S | E | I | R | V | Y | S | A | S |
Ptroglodytes | all identical | ENSPTRG00000003558 | 307 | | | | | G | A | R | L | L | T | T | D | Q | K | S | E | I | R | V | Y | S | A | S |
Mmulatta | all identical | ENSMMUG00000022964 | 307 | | | | | G | A | R | L | L | T | T | D | Q | K | S | E | I | R | I | Y | S | A | S |
Fcatus | all identical | ENSFCAG00000002526 | 307 | | | | | G | A | Q | L | L | T | T | D | Q | K | S | E | L | R | V | Y | S | A | S |
Mmusculus | all identical | ENSMUSG00000002109 | 307 | | | | | | A | R | L | L | T | T | D | Q | N | N | E | I | R | V | Y | S | A | S |
Ggallus | all identical | ENSGALG00000008218 | 327 | F | S | PT | D | G | A | K | L | L | S | T | D | Q | R | N | E | I | R | V | Y | S | C | S |
Trubripes | no homologue | | | |
Drerio | all identical | ENSDARG00000041140 | 316 | - | - | - | D | S | T | K | L | L | T | T | D | Q | R | N | E | I | R | V | Y | S | S | Y |
Dmelanogaster | no homologue | | | |
Celegans | no homologue | | | |
Xtropicalis | all identical | ENSXETG00000003980 | 316 | F | S | PW | D | G | A | K | L | L | T | T | D | Q | H | S | E | I | R | V | Y | S | A | C |
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protein features | start (aa) | end (aa) | feature | details | | 240 | 280 | REPEAT | WD 3. | lost | 241 | 243 | STRAND | | lost | 245 | 250 | STRAND | | might get lost (downstream of altered splice site) | 255 | 262 | STRAND | | might get lost (downstream of altered splice site) | 256 | 274 | MOTIF | DWD box. | might get lost (downstream of altered splice site) | 258 | 258 | MUTAGEN | L->A: Impairs interaction with DDB1. | might get lost (downstream of altered splice site) | 262 | 262 | MUTAGEN | S->A: Impairs interaction with DDB1. | might get lost (downstream of altered splice site) | 264 | 264 | MUTAGEN | D->A: Impairs interaction with DDB1. | might get lost (downstream of altered splice site) | 269 | 269 | MUTAGEN | I->A: Impairs interaction with DDB1. | might get lost (downstream of altered splice site) | 269 | 271 | STRAND | | might get lost (downstream of altered splice site) | 270 | 270 | MUTAGEN | W->A: Impairs interaction with DDB1. | might get lost (downstream of altered splice site) | 272 | 272 | MUTAGEN | L->A: Impairs interaction with DDB1. | might get lost (downstream of altered splice site) | 272 | 274 | TURN | | might get lost (downstream of altered splice site) | 273 | 273 | MUTAGEN | R->A: Impairs interaction with DDB1. | might get lost (downstream of altered splice site) | 277 | 279 | STRAND | | might get lost (downstream of altered splice site) | 278 | 278 | MOD_RES | N6-acetyllysine. | might get lost (downstream of altered splice site) | 282 | 286 | STRAND | | might get lost (downstream of altered splice site) | 286 | 325 | REPEAT | WD 4. | might get lost (downstream of altered splice site) | 291 | 293 | STRAND | | might get lost (downstream of altered splice site) | 300 | 310 | STRAND | | might get lost (downstream of altered splice site) | 312 | 326 | STRAND | | might get lost (downstream of altered splice site) | 335 | 337 | STRAND | | might get lost (downstream of altered splice site) | 346 | 349 | STRAND | | might get lost (downstream of altered splice site) | 350 | 350 | MUTAGEN | L->P: Impairs interaction with DDB1. | might get lost (downstream of altered splice site) | 351 | 354 | STRAND | | might get lost (downstream of altered splice site) | 364 | 366 | STRAND | | might get lost (downstream of altered splice site) | 372 | 375 | STRAND | | might get lost (downstream of altered splice site) | 377 | 379 | STRAND | | might get lost (downstream of altered splice site) | 382 | 386 | STRAND | | might get lost (downstream of altered splice site) | 389 | 391 | TURN | | might get lost (downstream of altered splice site) | 389 | 426 | REPEAT | WD 5. | might get lost (downstream of altered splice site) | 397 | 400 | STRAND | | might get lost (downstream of altered splice site) | 407 | 410 | STRAND | | might get lost (downstream of altered splice site) | 412 | 417 | 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 | 1092 / 1092 |
position (AA) of stopcodon in wt / mu AA sequence | 364 / 364 |
position of stopcodon in wt / mu cDNA | 1287 / 1287 |
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 | 196 / 196 |
chromosome | 11 |
strand | 1 |
last intron/exon boundary | 1238 |
theoretical NMD boundary in CDS | 992 |
length of CDS | 1092 |
coding sequence (CDS) position | 727 |
cDNA position (for ins/del: last normal base / first normal base) | 922 |
gDNA position (for ins/del: last normal base / first normal base) | 20367 |
chromosomal position (for ins/del: last normal base / first normal base) | 47256859 |
original gDNA sequence snippet | GAGCCCGGCTCCTGACCACGGACCAGAAGAGCGAGATCCGA |
altered gDNA sequence snippet | GAGCCCGGCTCCTGACCACGTACCAGAAGAGCGAGATCCGA |
original cDNA sequence snippet | GAGCCCGGCTCCTGACCACGGACCAGAAGAGCGAGATCCGA |
altered cDNA sequence snippet | GAGCCCGGCTCCTGACCACGTACCAGAAGAGCGAGATCCGA |
wildtype AA sequence | MAPKKRPETQ KTSEIVLRPR NKRSRSPLEL EPEAKKLCAK GSGPSRRCDS DCLWVGLAGP QILPPCRSIV RTLHQHKLGR ASWPSVQQIG AGGSITGLKF NPLNTNQFYA SSMEGTTRLQ DFKGNILRVF ASSDTINIWF CSLDVSASSR MVVTGDNVGN VILLNMDGKE LWNLRMHKKK VTHVALNPCC DWFLATASVD QTVKIWDLRQ VRGKASFLYS LPHRHPVNAA CFSPDGARLL TTDQKSEIRV YSASQWDCPL GLIPHPHRHF QHLTPIKAAW HPRYNLIVVG RYPDPNFKSC TPYELRTIDV FDGNSGKMMC QLYDPESSGI SSLNEFNPMG DTLASAMGYH ILIWSQEEAR TRK* |
mutated AA sequence | MAPKKRPETQ KTSEIVLRPR NKRSRSPLEL EPEAKKLCAK GSGPSRRCDS DCLWVGLAGP QILPPCRSIV RTLHQHKLGR ASWPSVQQIG AGGSITGLKF NPLNTNQFYA SSMEGTTRLQ DFKGNILRVF ASSDTINIWF CSLDVSASSR MVVTGDNVGN VILLNMDGKE LWNLRMHKKK VTHVALNPCC DWFLATASVD QTVKIWDLRQ VRGKASFLYS LPHRHPVNAA CFSPDGARLL TTYQKSEIRV YSASQWDCPL GLIPHPHRHF QHLTPIKAAW HPRYNLIVVG RYPDPNFKSC TPYELRTIDV FDGNSGKMMC QLYDPESSGI SSLNEFNPMG DTLASAMGYH ILIWSQEEAR TRK* |
speed | 0.21 s |
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