mutation t@sting |
documentation |
Prediction |
disease causing |
Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain) | |||||||||||||||
Summary |
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hyperlink | |||||||||||||||
analysed issue | analysis result | ||||||||||||||||
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name of alteration | no title | ||||||||||||||||
alteration (phys. location) | chr13:110839528C>TN/A show variant in all transcripts IGV | ||||||||||||||||
HGNC symbol | COL4A1 | ||||||||||||||||
Ensembl transcript ID | ENST00000397198 | ||||||||||||||||
Genbank transcript ID | N/A | ||||||||||||||||
UniProt peptide | N/A | ||||||||||||||||
alteration type | single base exchange | ||||||||||||||||
alteration region | intron | ||||||||||||||||
DNA changes | g.119969G>A | ||||||||||||||||
AA changes | N/A | ||||||||||||||||
position(s) of altered AA if AA alteration in CDS | N/A | ||||||||||||||||
frameshift | N/A | ||||||||||||||||
known variant | Reference ID: rs121912857
Allele 'T' was neither found in ExAC nor 1000G. known disease mutation: rs17414 (pathogenic for Brain small vessel disease 1 with or without ocular anomalies) dbSNP NCBI variation viewer known disease mutation at this position, please check HGMD for details (HGMD ID CM067659) known disease mutation at this position, please check HGMD for details (HGMD ID CM067659) known disease mutation at this position, please check HGMD for details (HGMD ID CM067659) | ||||||||||||||||
regulatory features | H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation | ||||||||||||||||
phyloP / phastCons |
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splice sites |
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distance from splice site | 5077 | ||||||||||||||||
Kozak consensus sequence altered? | N/A | ||||||||||||||||
conservation protein level for non-synonymous changes | N/A | ||||||||||||||||
protein features | N/A | ||||||||||||||||
length of protein | N/A | ||||||||||||||||
AA sequence altered | N/A | ||||||||||||||||
position of stopcodon in wt / mu CDS | N/A | ||||||||||||||||
position (AA) of stopcodon in wt / mu AA sequence | N/A | ||||||||||||||||
position of stopcodon in wt / mu cDNA | N/A | ||||||||||||||||
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 | 123 / 123 | ||||||||||||||||
chromosome | 13 | ||||||||||||||||
strand | -1 | ||||||||||||||||
last intron/exon boundary | 3998 | ||||||||||||||||
theoretical NMD boundary in CDS | 3825 | ||||||||||||||||
length of CDS | 3957 | ||||||||||||||||
coding sequence (CDS) position | N/A | ||||||||||||||||
cDNA position (for ins/del: last normal base / first normal base) | N/A | ||||||||||||||||
gDNA position (for ins/del: last normal base / first normal base) | 119969 | ||||||||||||||||
chromosomal position (for ins/del: last normal base / first normal base) | 110839528 | ||||||||||||||||
original gDNA sequence snippet | AGGGAGAGCGGGTTCTCCTGGAAGAGATGGCCATCCGGGTC | ||||||||||||||||
altered gDNA sequence snippet | AGGGAGAGCGGGTTCTCCTGAAAGAGATGGCCATCCGGGTC | ||||||||||||||||
original cDNA sequence snippet | N/A | ||||||||||||||||
altered cDNA sequence snippet | N/A | ||||||||||||||||
wildtype AA sequence | MGPRLSVWLL LLPAALLLHE EHSRAAAKGG CAGSGCGKCD CHGVKGQKGE RGLPGLQGVI GFPGMQGPEG PQGPPGQKGD TGEPGLPGTK GTRGPPGASG YPGNPGLPGI PGQDGPPGPP GIPGCNGTKG ERGPLGPPGL PGFAGNPGPP GLPGMKGDPG EILGHVPGML LKGERGFPGI PGTPGPPGLP GLQGPVGPPG FTGPPGPPGP PGPPGEKGQM GLSFQGPKGD KGDQGVSGPP GVPGQAQVQE KGDFATKGEK GQKGEPGFQG MPGVGEKGEP GKPGPRGKPG KDGDKGEKGS PGFPGEPGYP GLIGRQGPQG EKGEAGPPGP PGIVIGTGPL GEKGERGYPG TPGPRGEPGP KGFPGLPGQP GPPGLPVPGQ AGAPGFPGER GEKGDRGFPG TSLPGPSGRD GLPGPPGSPG PPGQPGYTNG IVECQPGPPG DQGPPGIPGQ PGFIGEIGEK GQKGESCLIC DIDGYRGPPG PQGPPGEIGF PGQPGAKGLP GITGQSGLPG LPGQQGAPGI PGFPGSKGEM GVMGTPGQPG SPGPVGAPGL PGEKGDHGFP GSSGPRGDPG LKGDKGDVGL PGKPGSMDKV DMGSMKGQKG DQGEKGQIGP IGEKGSRGDP GTPGVPGKDG QAGQPGQPGP KGDPGISGTP GAPGLPGPKG SVGGMGLPGT PGEKGVPGIP GPQGSPGLPG DKGAKGEKGQ AGPPGIGIPG LRGEKGDQGI AGFPGSPGEK GEKGSIGIPG MPGSPGLKGS PGSVGYPGSP GLPGEKGDKG LPGLDGIPGV KGEAGLPGTP GPTGPAGQKG EPGSDGIPGS AGEKGEPGLP GRGFPGFPGA KGDKGSKGEV GFPGLAGSPG IPGSKGEQGF MGPPGPQGQP GLPGSPGHAT EGPKGDRGPQ GQPGLPGLPG PMGPPGLPGI DGVKGDKGNP GWPGAPGVPG PKGDPGFQGM PGIGGSPGIT GSKGDMGPPG VPGFQGPKGL PGLQGIKGDQ GDQGVPGAKG LPGPPGPPGP YDIIKGEPGL PGPEGPPGLK GLQGLPGPKG QQGVTGLVGI PGPPGIPGFD GAPGQKGEMG PAGPTGPRGF PGPPGPDGLP GSMGPPGTPS VDHGFLVTRH SQTIDDPQCP SGTKILYHGY SLLYVQGNER AHGQDLGTAG SCLRKFSTMP FLFCNINNVC NFASRNDYSY WLSTPEPMPM SMAPITGENI RPFISRCAVC EAPAMVMAVH SQTIQIPPCP SGWSSLWIGY SFVMHTSAGA EGSGQALASP GSCLEEFRSA PFIECHGRGT CNYYANAYSF WLATIERSEM FKKPTPSTLK AGELRTHVSR CQVCMRRT* | ||||||||||||||||
mutated AA sequence | N/A | ||||||||||||||||
speed | 0.75 s | ||||||||||||||||