Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 8 transcript(s)...
Querying Taster for transcript #1: ENST00000374708
Querying Taster for transcript #2: ENST00000341947
Querying Taster for transcript #3: ENST00000357486
Querying Taster for transcript #4: ENST00000374714
Querying Taster for transcript #5: ENST00000374713
Querying Taster for transcript #6: ENST00000395197
Querying Taster for transcript #7: ENST00000374712
Querying Taster for transcript #8: ENST00000361917
MT speed 0 s - this script 6.670847 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
COL11A2disease_causing_automatic0.999999792516987simple_aaeaffected0G1355Esingle base exchangers121912946show file
COL11A2disease_causing_automatic0.999999792516987simple_aaeaffected0G1420Esingle base exchangers121912946show file
COL11A2disease_causing_automatic0.999999792516987simple_aaeaffected0G1415Esingle base exchangers121912946show file
COL11A2disease_causing_automatic0.999999792516987simple_aaeaffected0G1394Esingle base exchangers121912946show file
COL11A2disease_causing_automatic0.999999792516987simple_aaeaffected0G1381Esingle base exchangers121912946show file
COL11A2disease_causing_automatic0.999999792516987simple_aaeaffected0G1360Esingle base exchangers121912946show file
COL11A2disease_causing_automatic0.999999792516987simple_aaeaffected0G1334Esingle base exchangers121912946show file
COL11A2disease_causing_automatic0.99999987505526simple_aaeaffected0G1441Esingle base exchangers121912946show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999792516987 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM980386)
  • known disease mutation: rs17123 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:33134513C>TN/A show variant in all transcripts   IGV
HGNC symbol COL11A2
Ensembl transcript ID ENST00000374708
Genbank transcript ID NM_080681
UniProt peptide P13942
alteration type single base exchange
alteration region CDS
DNA changes c.4064G>A
cDNA.4323G>A
g.25764G>A
AA changes G1355E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1355
frameshift no
known variant Reference ID: rs121912946
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs17123 (pathogenic for Otospondylomegaepiphyseal dysplasia, autosomal dominant) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM980386)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980386)
known disease mutation at this position, please check HGMD for details (HGMD ID CM980386)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0591
4.7781
(flanking)4.7780.998
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased25764wt: 0.5682 / mu: 0.6376 (marginal change - not scored)wt: TGGGCCTCAGGGCTCCCCTGGGCAGAAGGGTGAGATGGTGA
mu: TGGGCCTCAGGGCTCCCCTGAGCAGAAGGGTGAGATGGTGA		 ctgg|GCAG
Donor marginally increased25767wt: 0.8507 / mu: 0.9089 (marginal change - not scored)wt: TGGGCAGAAGGGTGA
mu: TGAGCAGAAGGGTGA		 GGCA|gaag
Donor increased25765wt: 0.84 / mu: 0.96wt: CCTGGGCAGAAGGGT
mu: CCTGAGCAGAAGGGT		 TGGG|caga
Donor gained257640.79mu: CCCTGAGCAGAAGGG CTGA|gcag
Donor gained257590.51mu: GGCTCCCCTGAGCAG CTCC|cctg
Donor gained257620.42mu: TCCCCTGAGCAGAAG CCCT|gagc
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1355DRGLPGPQGSPGQKGEMGIPGASG
mutated  not conserved    1355DRGLPGPQGSPEQKGEMGIPGAS
Ptroglodytes  all identical  ENSPTRG00000018033  1403GQKGEMGIPGAS
Mmulatta  all identical  ENSMMUG00000003850  1447TGIPGASGPIGPGGPPGLPGPA
Fcatus  all identical  ENSFCAG00000004005  1068DRGLPGPQGSAGQKGETGIPGAS
Mmusculus  all identical  ENSMUSG00000024330  1394DRGLPGPQGSPGQKGETGIPGAS
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000005534  1508HGSNGPKGETGMPGGT
Drerio  all identical  ENSDARG00000012422  1687TGPKGETGISGGT
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000012724  1671DRGLPGPH---------GIPGVT
protein features
start (aa)end (aa)featuredetails 
4871500REGIONTriple-helical region.lost
14411499DOMAINCollagen-like 8.might get lost (downstream of altered splice site)
15011736PROPEPC-terminal propeptide. /FTId=PRO_0000005841.might get lost (downstream of altered splice site)
15411735DOMAINFibrillar collagen NC1.might get lost (downstream of altered splice site)
15521552CONFLICTE -> R (in Ref. 7; AAA52034).might get lost (downstream of altered splice site)
15711571DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15711571DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15771577DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15771577DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15941594DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15941594DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
16031603DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
16031603DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
16041604CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16121612DISULFIDBy similarity.might get lost (downstream of altered splice site)
16551655DISULFIDBy similarity.might get lost (downstream of altered splice site)
16891689DISULFIDBy similarity.might get lost (downstream of altered splice site)
17331733DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4953 / 4953
position (AA) of stopcodon in wt / mu AA sequence 1651 / 1651
position of stopcodon in wt / mu cDNA 5212 / 5212
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 260 / 260
chromosome 6
strand -1
last intron/exon boundary 5072
theoretical NMD boundary in CDS 4762
length of CDS 4953
coding sequence (CDS) position 4064
cDNA position
(for ins/del: last normal base / first normal base)		 4323
gDNA position
(for ins/del: last normal base / first normal base)		 25764
chromosomal position
(for ins/del: last normal base / first normal base)		 33134513
original gDNA sequence snippet TGGGCCTCAGGGCTCCCCTGGGCAGAAGGGTGAGATGGTGA
altered gDNA sequence snippet TGGGCCTCAGGGCTCCCCTGAGCAGAAGGGTGAGATGGTGA
original cDNA sequence snippet TGGGCCTCAGGGCTCCCCTGGGCAGAAGGGTGAGATGGGTA
altered cDNA sequence snippet TGGGCCTCAGGGCTCCCCTGAGCAGAAGGGTGAGATGGGTA
wildtype AA sequence MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQDPTP GEEEEILESS LLPPLEEAAH GPRGLKGEKG
EPAVLEPGML VEGPPGPEGP AGLIGPPGIQ GNPGPVGDPG ERGPPGRAGL PGSDGAPGPP
GTSLMLPFRF GSGGGDKGPV VAAQEAQAQA ILQQARLALR GPPGPMGYTG RPGPLGQPGS
PGLKGESGDL GPQGPRGPQG LTGPPGKAGR RGRAGADGAR GMPGDPGVKG DRGFDGLPGL
PGEKGHRGDT GAQGLPGPPG EDGERGDDGE IGPRGLPGES GPRGLLGPKG PPGIPGPPGV
RGMDGPQGPK GSLGPQGEPG PPGQQGTPGT QGLPGPQGAI GPHGEKGPQG KPGLPGMPGS
DGPPGHPGKE GPPGTKGNQG PSGPQGPLGY PGPRGVKGVD GIRGLKGHKG EKGEDGFPGF
KGDIGVKGDR GEVGVPGSRG EDGPEGPKGR TGPTGDPGPP GLMGEKGKLG VPGLPGYPGR
QGPKGSLGFP GFPGASGEKG ARGLSGKSGP RGERGPTGPR GQRGPRGATG KSGAKGTSGG
DGPHGPPGER GLPGPQGPNG FPGPKGPPGP PGKDGLPGHP GQRGEVGFQG KTGPPGPPGV
VGPQGAAGET GPMGERGHPG PPGPPGEQGL PGTAGKEGTK GDPGPPGAPG KDGPAGLRGF
PGERGLPGTA GGPGLKGNEG PSGPPGPAGS PGERGAAGSG GPIGPPGRPG PQGPPGAAGE
KGVPGEKGPI GPTGRDGVQG PVGLPGPAGP PGVAGEDGDK GEVGDPGQKG TKGNKGEHGP
PGPPGPIGPV GQPGAAGADG EPGARGPQGH FGAKGDEGTR GFNGPPGPIG LQGLPGPSGE
KGETGDVGPM GPPGPPGPRG PAGPNGADGP QGPPGGVGNL GPPGEKGEPG ESGSPGIQGE
PGVKGPRGER GEKGESGQPG EPGPPGPKGP TGDDGPKGNP GPVGFPGDPG PPGEGGPRGQ
DGAKGDRGED GEPGQPGSPG PTGENGPPGP LGKRGPAGSP GSEGRQGGKG AKGDPGAIGA
PGKTGPVGPA GPAGKPGPDG LRGLPGSVGQ QGRPGATGQA GPPGPVGPPG LPGLRGDAGA
KGEKGHPGLI GLIGPPGEQG EKGDRGLPGP QGSPGQKGEM GIPGASGPIG PGGPPGLPGP
AGPKGAKGAT GPGGPKGEKG VQGPPGHPGP PGEVIQPLPI QMPKKTRRSV DGSRLMQEDE
AIPTGGAPGS PGGLEEIFGS LDSLREEIEQ MRRPTGTQDS PARTCQDLKL CHPELPDGEY
WVDPNQGCAR DAFRVFCNFT AGGETCVTPR DDVTQFSYVD SEGSPVGVVQ LTFLRLLSVS
AHQDVSYPCS GAARDGPLRL RGANEDELSP ETSPYVKEFR DGCQTQQGRT VLEVRTPVLE
QLPVLDASFS DLGAPPRRGG VLLGPVCFMG *
mutated AA sequence MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQDPTP GEEEEILESS LLPPLEEAAH GPRGLKGEKG
EPAVLEPGML VEGPPGPEGP AGLIGPPGIQ GNPGPVGDPG ERGPPGRAGL PGSDGAPGPP
GTSLMLPFRF GSGGGDKGPV VAAQEAQAQA ILQQARLALR GPPGPMGYTG RPGPLGQPGS
PGLKGESGDL GPQGPRGPQG LTGPPGKAGR RGRAGADGAR GMPGDPGVKG DRGFDGLPGL
PGEKGHRGDT GAQGLPGPPG EDGERGDDGE IGPRGLPGES GPRGLLGPKG PPGIPGPPGV
RGMDGPQGPK GSLGPQGEPG PPGQQGTPGT QGLPGPQGAI GPHGEKGPQG KPGLPGMPGS
DGPPGHPGKE GPPGTKGNQG PSGPQGPLGY PGPRGVKGVD GIRGLKGHKG EKGEDGFPGF
KGDIGVKGDR GEVGVPGSRG EDGPEGPKGR TGPTGDPGPP GLMGEKGKLG VPGLPGYPGR
QGPKGSLGFP GFPGASGEKG ARGLSGKSGP RGERGPTGPR GQRGPRGATG KSGAKGTSGG
DGPHGPPGER GLPGPQGPNG FPGPKGPPGP PGKDGLPGHP GQRGEVGFQG KTGPPGPPGV
VGPQGAAGET GPMGERGHPG PPGPPGEQGL PGTAGKEGTK GDPGPPGAPG KDGPAGLRGF
PGERGLPGTA GGPGLKGNEG PSGPPGPAGS PGERGAAGSG GPIGPPGRPG PQGPPGAAGE
KGVPGEKGPI GPTGRDGVQG PVGLPGPAGP PGVAGEDGDK GEVGDPGQKG TKGNKGEHGP
PGPPGPIGPV GQPGAAGADG EPGARGPQGH FGAKGDEGTR GFNGPPGPIG LQGLPGPSGE
KGETGDVGPM GPPGPPGPRG PAGPNGADGP QGPPGGVGNL GPPGEKGEPG ESGSPGIQGE
PGVKGPRGER GEKGESGQPG EPGPPGPKGP TGDDGPKGNP GPVGFPGDPG PPGEGGPRGQ
DGAKGDRGED GEPGQPGSPG PTGENGPPGP LGKRGPAGSP GSEGRQGGKG AKGDPGAIGA
PGKTGPVGPA GPAGKPGPDG LRGLPGSVGQ QGRPGATGQA GPPGPVGPPG LPGLRGDAGA
KGEKGHPGLI GLIGPPGEQG EKGDRGLPGP QGSPEQKGEM GIPGASGPIG PGGPPGLPGP
AGPKGAKGAT GPGGPKGEKG VQGPPGHPGP PGEVIQPLPI QMPKKTRRSV DGSRLMQEDE
AIPTGGAPGS PGGLEEIFGS LDSLREEIEQ MRRPTGTQDS PARTCQDLKL CHPELPDGEY
WVDPNQGCAR DAFRVFCNFT AGGETCVTPR DDVTQFSYVD SEGSPVGVVQ LTFLRLLSVS
AHQDVSYPCS GAARDGPLRL RGANEDELSP ETSPYVKEFR DGCQTQQGRT VLEVRTPVLE
QLPVLDASFS DLGAPPRRGG VLLGPVCFMG *
speed 0.81 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999792516987 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM980386)
  • known disease mutation: rs17123 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:33134513C>TN/A show variant in all transcripts   IGV
HGNC symbol COL11A2
Ensembl transcript ID ENST00000357486
Genbank transcript ID N/A
UniProt peptide P13942
alteration type single base exchange
alteration region CDS
DNA changes c.4259G>A
cDNA.4487G>A
g.25764G>A
AA changes G1420E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1420
frameshift no
known variant Reference ID: rs121912946
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs17123 (pathogenic for Otospondylomegaepiphyseal dysplasia, autosomal dominant) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM980386)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980386)
known disease mutation at this position, please check HGMD for details (HGMD ID CM980386)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0591
4.7781
(flanking)4.7780.998
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased25764wt: 0.5682 / mu: 0.6376 (marginal change - not scored)wt: TGGGCCTCAGGGCTCCCCTGGGCAGAAGGGTGAGATGGTGA
mu: TGGGCCTCAGGGCTCCCCTGAGCAGAAGGGTGAGATGGTGA		 ctgg|GCAG
Donor marginally increased25767wt: 0.8507 / mu: 0.9089 (marginal change - not scored)wt: TGGGCAGAAGGGTGA
mu: TGAGCAGAAGGGTGA		 GGCA|gaag
Donor increased25765wt: 0.84 / mu: 0.96wt: CCTGGGCAGAAGGGT
mu: CCTGAGCAGAAGGGT		 TGGG|caga
Donor gained257640.79mu: CCCTGAGCAGAAGGG CTGA|gcag
Donor gained257590.51mu: GGCTCCCCTGAGCAG CTCC|cctg
Donor gained257620.42mu: TCCCCTGAGCAGAAG CCCT|gagc
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1420DRGLPGPQGSPGQKGEMGIPGASG
mutated  not conserved    1420DRGLPGPQGSPEQKGEMGIPGAS
Ptroglodytes  all identical  ENSPTRG00000018033  1403GQKGEMGIPGAS
Mmulatta  all identical  ENSMMUG00000003850  1447TGIPGASGPIGPGGPPGLPGPA
Fcatus  all identical  ENSFCAG00000004005  1068DRGLPGPQGSAGQKGETGIPGAS
Mmusculus  all identical  ENSMUSG00000024330  1394DRGLPGPQGSPGQKGETGIPGAS
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000005534  1508MPGPHGSNGPKGETGMPGGT
Drerio  all identical  ENSDARG00000012422  1687DRGMPGPQGSTGPKGE
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000012724  1671DRGLPGPH---------GIPGVT
protein features
start (aa)end (aa)featuredetails 
4871500REGIONTriple-helical region.lost
14411499DOMAINCollagen-like 8.might get lost (downstream of altered splice site)
15011736PROPEPC-terminal propeptide. /FTId=PRO_0000005841.might get lost (downstream of altered splice site)
15411735DOMAINFibrillar collagen NC1.might get lost (downstream of altered splice site)
15521552CONFLICTE -> R (in Ref. 7; AAA52034).might get lost (downstream of altered splice site)
15711571DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15711571DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15771577DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15771577DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15941594DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15941594DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
16031603DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
16031603DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
16041604CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16121612DISULFIDBy similarity.might get lost (downstream of altered splice site)
16551655DISULFIDBy similarity.might get lost (downstream of altered splice site)
16891689DISULFIDBy similarity.might get lost (downstream of altered splice site)
17331733DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5148 / 5148
position (AA) of stopcodon in wt / mu AA sequence 1716 / 1716
position of stopcodon in wt / mu cDNA 5376 / 5376
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 229 / 229
chromosome 6
strand -1
last intron/exon boundary 5236
theoretical NMD boundary in CDS 4957
length of CDS 5148
coding sequence (CDS) position 4259
cDNA position
(for ins/del: last normal base / first normal base)		 4487
gDNA position
(for ins/del: last normal base / first normal base)		 25764
chromosomal position
(for ins/del: last normal base / first normal base)		 33134513
original gDNA sequence snippet TGGGCCTCAGGGCTCCCCTGGGCAGAAGGGTGAGATGGTGA
altered gDNA sequence snippet TGGGCCTCAGGGCTCCCCTGAGCAGAAGGGTGAGATGGTGA
original cDNA sequence snippet TGGGCCTCAGGGCTCCCCTGGGCAGAAGGGTGAGATGGGTA
altered cDNA sequence snippet TGGGCCTCAGGGCTCCCCTGAGCAGAAGGGTGAGATGGGTA
wildtype AA sequence MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQPTES LYYDYEPPYY DVMTTGTTPD YQEQTDLQVP
PTADRFQAEE YGEGGTDPPE GPYDYTYGYG DDYREETELG PALSAETAHS GAAAHGPRGL
KGEKGEPAVL EPGMLVEGPP GPEGPAGLIG PPGIQGNPGP VGDPGERGPP GRAGLPGSDG
APGPPGTSLM LPFRFGSGGG DKGPVVAAQE AQAQAILQQA RLALRGPPGP MGYTGRPGPL
GQPGSPGLKG ESGDLGPQGP RGPQGLTGPP GKAGRRGRAG ADGARGMPGD PGVKGDRGFD
GLPGLPGEKG HRGDTGAQGL PGPPGEDGER GDDGEIGPRG LPGESGPRGL LGPKGPPGIP
GPPGVRGMDG PQGPKGSLGP QGEPGPPGQQ GTPGTQGLPG PQGAIGPHGE KGPQGKPGLP
GMPGSDGPPG HPGKEGPPGT KGNQGPSGPQ GPLGYPGPRG VKGVDGIRGL KGHKGEKGED
GFPGFKGDIG VKGDRGEVGV PGSRGEDGPE GPKGRTGPTG DPGPPGLMGE KGKLGVPGLP
GYPGRQGPKG SLGFPGFPGA SGEKGARGLS GKSGPRGERG PTGPRGQRGP RGATGKSGAK
GTSGGDGPHG PPGERGLPGP QGPNGFPGPK GPPGPPGKDG LPGHPGQRGE VGFQGKTGPP
GPPGVVGPQG AAGETGPMGE RGHPGPPGPP GEQGLPGTAG KEGTKGDPGP PGAPGKDGPA
GLRGFPGERG LPGTAGGPGL KGNEGPSGPP GPAGSPGERG AAGSGGPIGP PGRPGPQGPP
GAAGEKGVPG EKGPIGPTGR DGVQGPVGLP GPAGPPGVAG EDGDKGEVGD PGQKGTKGNK
GEHGPPGPPG PIGPVGQPGA AGADGEPGAR GPQGHFGAKG DEGTRGFNGP PGPIGLQGLP
GPSGEKGETG DVGPMGPPGP PGPRGPAGPN GADGPQGPPG GVGNLGPPGE KGEPGESGSP
GIQGEPGVKG PRGERGEKGE SGQPGEPGPP GPKGPTGDDG PKGNPGPVGF PGDPGPPGEG
GPRGQDGAKG DRGEDGEPGQ PGSPGPTGEN GPPGPLGKRG PAGSPGSEGR QGGKGAKGDP
GAIGAPGKTG PVGPAGPAGK PGPDGLRGLP GSVGQQGRPG ATGQAGPPGP VGPPGLPGLR
GDAGAKGEKG HPGLIGLIGP PGEQGEKGDR GLPGPQGSPG QKGEMGIPGA SGPIGPGGPP
GLPGPAGPKG AKGATGPGGP KGEKGVQGPP GHPGPPGEVI QPLPIQMPKK TRRSVDGSRL
MQEDEAIPTG GAPGSPGGLE EIFGSLDSLR EEIEQMRRPT GTQDSPARTC QDLKLCHPEL
PDGEYWVDPN QGCARDAFRV FCNFTAGGET CVTPRDDVTQ FSYVDSEGSP VGVVQLTFLR
LLSVSAHQDV SYPCSGAARD GPLRLRGANE DELSPETSPY VKEFRDGCQT QQGRTVLEVR
TPVLEQLPVL DASFSDLGAP PRRGGVLLGP VCFMG*
mutated AA sequence MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQPTES LYYDYEPPYY DVMTTGTTPD YQEQTDLQVP
PTADRFQAEE YGEGGTDPPE GPYDYTYGYG DDYREETELG PALSAETAHS GAAAHGPRGL
KGEKGEPAVL EPGMLVEGPP GPEGPAGLIG PPGIQGNPGP VGDPGERGPP GRAGLPGSDG
APGPPGTSLM LPFRFGSGGG DKGPVVAAQE AQAQAILQQA RLALRGPPGP MGYTGRPGPL
GQPGSPGLKG ESGDLGPQGP RGPQGLTGPP GKAGRRGRAG ADGARGMPGD PGVKGDRGFD
GLPGLPGEKG HRGDTGAQGL PGPPGEDGER GDDGEIGPRG LPGESGPRGL LGPKGPPGIP
GPPGVRGMDG PQGPKGSLGP QGEPGPPGQQ GTPGTQGLPG PQGAIGPHGE KGPQGKPGLP
GMPGSDGPPG HPGKEGPPGT KGNQGPSGPQ GPLGYPGPRG VKGVDGIRGL KGHKGEKGED
GFPGFKGDIG VKGDRGEVGV PGSRGEDGPE GPKGRTGPTG DPGPPGLMGE KGKLGVPGLP
GYPGRQGPKG SLGFPGFPGA SGEKGARGLS GKSGPRGERG PTGPRGQRGP RGATGKSGAK
GTSGGDGPHG PPGERGLPGP QGPNGFPGPK GPPGPPGKDG LPGHPGQRGE VGFQGKTGPP
GPPGVVGPQG AAGETGPMGE RGHPGPPGPP GEQGLPGTAG KEGTKGDPGP PGAPGKDGPA
GLRGFPGERG LPGTAGGPGL KGNEGPSGPP GPAGSPGERG AAGSGGPIGP PGRPGPQGPP
GAAGEKGVPG EKGPIGPTGR DGVQGPVGLP GPAGPPGVAG EDGDKGEVGD PGQKGTKGNK
GEHGPPGPPG PIGPVGQPGA AGADGEPGAR GPQGHFGAKG DEGTRGFNGP PGPIGLQGLP
GPSGEKGETG DVGPMGPPGP PGPRGPAGPN GADGPQGPPG GVGNLGPPGE KGEPGESGSP
GIQGEPGVKG PRGERGEKGE SGQPGEPGPP GPKGPTGDDG PKGNPGPVGF PGDPGPPGEG
GPRGQDGAKG DRGEDGEPGQ PGSPGPTGEN GPPGPLGKRG PAGSPGSEGR QGGKGAKGDP
GAIGAPGKTG PVGPAGPAGK PGPDGLRGLP GSVGQQGRPG ATGQAGPPGP VGPPGLPGLR
GDAGAKGEKG HPGLIGLIGP PGEQGEKGDR GLPGPQGSPE QKGEMGIPGA SGPIGPGGPP
GLPGPAGPKG AKGATGPGGP KGEKGVQGPP GHPGPPGEVI QPLPIQMPKK TRRSVDGSRL
MQEDEAIPTG GAPGSPGGLE EIFGSLDSLR EEIEQMRRPT GTQDSPARTC QDLKLCHPEL
PDGEYWVDPN QGCARDAFRV FCNFTAGGET CVTPRDDVTQ FSYVDSEGSP VGVVQLTFLR
LLSVSAHQDV SYPCSGAARD GPLRLRGANE DELSPETSPY VKEFRDGCQT QQGRTVLEVR
TPVLEQLPVL DASFSDLGAP PRRGGVLLGP VCFMG*
speed 0.71 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999792516987 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM980386)
  • known disease mutation: rs17123 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:33134513C>TN/A show variant in all transcripts   IGV
HGNC symbol COL11A2
Ensembl transcript ID ENST00000374714
Genbank transcript ID N/A
UniProt peptide P13942
alteration type single base exchange
alteration region CDS
DNA changes c.4244G>A
cDNA.4472G>A
g.25764G>A
AA changes G1415E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1415
frameshift no
known variant Reference ID: rs121912946
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs17123 (pathogenic for Otospondylomegaepiphyseal dysplasia, autosomal dominant) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM980386)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980386)
known disease mutation at this position, please check HGMD for details (HGMD ID CM980386)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0591
4.7781
(flanking)4.7780.998
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased25764wt: 0.5682 / mu: 0.6376 (marginal change - not scored)wt: TGGGCCTCAGGGCTCCCCTGGGCAGAAGGGTGAGATGGTGA
mu: TGGGCCTCAGGGCTCCCCTGAGCAGAAGGGTGAGATGGTGA		 ctgg|GCAG
Donor marginally increased25767wt: 0.8507 / mu: 0.9089 (marginal change - not scored)wt: TGGGCAGAAGGGTGA
mu: TGAGCAGAAGGGTGA		 GGCA|gaag
Donor increased25765wt: 0.84 / mu: 0.96wt: CCTGGGCAGAAGGGT
mu: CCTGAGCAGAAGGGT		 TGGG|caga
Donor gained257640.79mu: CCCTGAGCAGAAGGG CTGA|gcag
Donor gained257590.51mu: GGCTCCCCTGAGCAG CTCC|cctg
Donor gained257620.42mu: TCCCCTGAGCAGAAG CCCT|gagc
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1415DRGLPGPQGSPGQKGEMGIPGASG
mutated  not conserved    1415DRGLPGPQGSPEQKGEMGIPGAS
Ptroglodytes  all identical  ENSPTRG00000018033  1403GQKGEMGIPGAS
Mmulatta  all identical  ENSMMUG00000003850  1447TGIPGASGPIGPGGPPGLPGPA
Fcatus  all identical  ENSFCAG00000004005  1068DRGLPGPQGSAGQKGETGIPGAS
Mmusculus  all identical  ENSMUSG00000024330  1394DRGLPGPQGSPGQKGETGIPGAS
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000005534  1508DRGMPGPHGSNGPKGETGMP
Drerio  all identical  ENSDARG00000012422  1687QGSTGPKGETGISGGT
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000012724  1671DRGLPGPH---------GIPGVT
protein features
start (aa)end (aa)featuredetails 
4871500REGIONTriple-helical region.lost
14411499DOMAINCollagen-like 8.might get lost (downstream of altered splice site)
15011736PROPEPC-terminal propeptide. /FTId=PRO_0000005841.might get lost (downstream of altered splice site)
15411735DOMAINFibrillar collagen NC1.might get lost (downstream of altered splice site)
15521552CONFLICTE -> R (in Ref. 7; AAA52034).might get lost (downstream of altered splice site)
15711571DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15711571DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15771577DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15771577DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15941594DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15941594DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
16031603DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
16031603DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
16041604CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16121612DISULFIDBy similarity.might get lost (downstream of altered splice site)
16551655DISULFIDBy similarity.might get lost (downstream of altered splice site)
16891689DISULFIDBy similarity.might get lost (downstream of altered splice site)
17331733DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5133 / 5133
position (AA) of stopcodon in wt / mu AA sequence 1711 / 1711
position of stopcodon in wt / mu cDNA 5361 / 5361
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 229 / 229
chromosome 6
strand -1
last intron/exon boundary 5221
theoretical NMD boundary in CDS 4942
length of CDS 5133
coding sequence (CDS) position 4244
cDNA position
(for ins/del: last normal base / first normal base)		 4472
gDNA position
(for ins/del: last normal base / first normal base)		 25764
chromosomal position
(for ins/del: last normal base / first normal base)		 33134513
original gDNA sequence snippet TGGGCCTCAGGGCTCCCCTGGGCAGAAGGGTGAGATGGTGA
altered gDNA sequence snippet TGGGCCTCAGGGCTCCCCTGAGCAGAAGGGTGAGATGGTGA
original cDNA sequence snippet TGGGCCTCAGGGCTCCCCTGGGCAGAAGGGTGAGATGGGTA
altered cDNA sequence snippet TGGGCCTCAGGGCTCCCCTGAGCAGAAGGGTGAGATGGGTA
wildtype AA sequence MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQDPTP GEEEEILESS LLPPLEEEQT DLQVPPTADR
FQAEEYGEGG TDPPEGPYDY TYGYGDDYRE ETELGPALSA ETAHSGAAAH GPRGLKGEKG
EPAVLEPGML VEGPPGPEGP AGLIGPPGIQ GNPGPVGDPG ERGPPGRAGL PGSDGAPGPP
GTSLMLPFRF GSGGGDKGPV VAAQEAQAQA ILQQARLALR GPPGPMGYTG RPGPLGQPGS
PGLKGESGDL GPQGPRGPQG LTGPPGKAGR RGRAGADGAR GMPGDPGVKG DRGFDGLPGL
PGEKGHRGDT GAQGLPGPPG EDGERGDDGE IGPRGLPGES GPRGLLGPKG PPGIPGPPGV
RGMDGPQGPK GSLGPQGEPG PPGQQGTPGT QGLPGPQGAI GPHGEKGPQG KPGLPGMPGS
DGPPGHPGKE GPPGTKGNQG PSGPQGPLGY PGPRGVKGVD GIRGLKGHKG EKGEDGFPGF
KGDIGVKGDR GEVGVPGSRG EDGPEGPKGR TGPTGDPGPP GLMGEKGKLG VPGLPGYPGR
QGPKGSLGFP GFPGASGEKG ARGLSGKSGP RGERGPTGPR GQRGPRGATG KSGAKGTSGG
DGPHGPPGER GLPGPQGPNG FPGPKGPPGP PGKDGLPGHP GQRGEVGFQG KTGPPGPPGV
VGPQGAAGET GPMGERGHPG PPGPPGEQGL PGTAGKEGTK GDPGPPGAPG KDGPAGLRGF
PGERGLPGTA GGPGLKGNEG PSGPPGPAGS PGERGAAGSG GPIGPPGRPG PQGPPGAAGE
KGVPGEKGPI GPTGRDGVQG PVGLPGPAGP PGVAGEDGDK GEVGDPGQKG TKGNKGEHGP
PGPPGPIGPV GQPGAAGADG EPGARGPQGH FGAKGDEGTR GFNGPPGPIG LQGLPGPSGE
KGETGDVGPM GPPGPPGPRG PAGPNGADGP QGPPGGVGNL GPPGEKGEPG ESGSPGIQGE
PGVKGPRGER GEKGESGQPG EPGPPGPKGP TGDDGPKGNP GPVGFPGDPG PPGEGGPRGQ
DGAKGDRGED GEPGQPGSPG PTGENGPPGP LGKRGPAGSP GSEGRQGGKG AKGDPGAIGA
PGKTGPVGPA GPAGKPGPDG LRGLPGSVGQ QGRPGATGQA GPPGPVGPPG LPGLRGDAGA
KGEKGHPGLI GLIGPPGEQG EKGDRGLPGP QGSPGQKGEM GIPGASGPIG PGGPPGLPGP
AGPKGAKGAT GPGGPKGEKG VQGPPGHPGP PGEVIQPLPI QMPKKTRRSV DGSRLMQEDE
AIPTGGAPGS PGGLEEIFGS LDSLREEIEQ MRRPTGTQDS PARTCQDLKL CHPELPDGEY
WVDPNQGCAR DAFRVFCNFT AGGETCVTPR DDVTQFSYVD SEGSPVGVVQ LTFLRLLSVS
AHQDVSYPCS GAARDGPLRL RGANEDELSP ETSPYVKEFR DGCQTQQGRT VLEVRTPVLE
QLPVLDASFS DLGAPPRRGG VLLGPVCFMG *
mutated AA sequence MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQDPTP GEEEEILESS LLPPLEEEQT DLQVPPTADR
FQAEEYGEGG TDPPEGPYDY TYGYGDDYRE ETELGPALSA ETAHSGAAAH GPRGLKGEKG
EPAVLEPGML VEGPPGPEGP AGLIGPPGIQ GNPGPVGDPG ERGPPGRAGL PGSDGAPGPP
GTSLMLPFRF GSGGGDKGPV VAAQEAQAQA ILQQARLALR GPPGPMGYTG RPGPLGQPGS
PGLKGESGDL GPQGPRGPQG LTGPPGKAGR RGRAGADGAR GMPGDPGVKG DRGFDGLPGL
PGEKGHRGDT GAQGLPGPPG EDGERGDDGE IGPRGLPGES GPRGLLGPKG PPGIPGPPGV
RGMDGPQGPK GSLGPQGEPG PPGQQGTPGT QGLPGPQGAI GPHGEKGPQG KPGLPGMPGS
DGPPGHPGKE GPPGTKGNQG PSGPQGPLGY PGPRGVKGVD GIRGLKGHKG EKGEDGFPGF
KGDIGVKGDR GEVGVPGSRG EDGPEGPKGR TGPTGDPGPP GLMGEKGKLG VPGLPGYPGR
QGPKGSLGFP GFPGASGEKG ARGLSGKSGP RGERGPTGPR GQRGPRGATG KSGAKGTSGG
DGPHGPPGER GLPGPQGPNG FPGPKGPPGP PGKDGLPGHP GQRGEVGFQG KTGPPGPPGV
VGPQGAAGET GPMGERGHPG PPGPPGEQGL PGTAGKEGTK GDPGPPGAPG KDGPAGLRGF
PGERGLPGTA GGPGLKGNEG PSGPPGPAGS PGERGAAGSG GPIGPPGRPG PQGPPGAAGE
KGVPGEKGPI GPTGRDGVQG PVGLPGPAGP PGVAGEDGDK GEVGDPGQKG TKGNKGEHGP
PGPPGPIGPV GQPGAAGADG EPGARGPQGH FGAKGDEGTR GFNGPPGPIG LQGLPGPSGE
KGETGDVGPM GPPGPPGPRG PAGPNGADGP QGPPGGVGNL GPPGEKGEPG ESGSPGIQGE
PGVKGPRGER GEKGESGQPG EPGPPGPKGP TGDDGPKGNP GPVGFPGDPG PPGEGGPRGQ
DGAKGDRGED GEPGQPGSPG PTGENGPPGP LGKRGPAGSP GSEGRQGGKG AKGDPGAIGA
PGKTGPVGPA GPAGKPGPDG LRGLPGSVGQ QGRPGATGQA GPPGPVGPPG LPGLRGDAGA
KGEKGHPGLI GLIGPPGEQG EKGDRGLPGP QGSPEQKGEM GIPGASGPIG PGGPPGLPGP
AGPKGAKGAT GPGGPKGEKG VQGPPGHPGP PGEVIQPLPI QMPKKTRRSV DGSRLMQEDE
AIPTGGAPGS PGGLEEIFGS LDSLREEIEQ MRRPTGTQDS PARTCQDLKL CHPELPDGEY
WVDPNQGCAR DAFRVFCNFT AGGETCVTPR DDVTQFSYVD SEGSPVGVVQ LTFLRLLSVS
AHQDVSYPCS GAARDGPLRL RGANEDELSP ETSPYVKEFR DGCQTQQGRT VLEVRTPVLE
QLPVLDASFS DLGAPPRRGG VLLGPVCFMG *
speed 0.94 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999792516987 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM980386)
  • known disease mutation: rs17123 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:33134513C>TN/A show variant in all transcripts   IGV
HGNC symbol COL11A2
Ensembl transcript ID ENST00000374713
Genbank transcript ID N/A
UniProt peptide P13942
alteration type single base exchange
alteration region CDS
DNA changes c.4181G>A
cDNA.4409G>A
g.25764G>A
AA changes G1394E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1394
frameshift no
known variant Reference ID: rs121912946
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs17123 (pathogenic for Otospondylomegaepiphyseal dysplasia, autosomal dominant) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM980386)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980386)
known disease mutation at this position, please check HGMD for details (HGMD ID CM980386)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0591
4.7781
(flanking)4.7780.998
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased25764wt: 0.5682 / mu: 0.6376 (marginal change - not scored)wt: TGGGCCTCAGGGCTCCCCTGGGCAGAAGGGTGAGATGGTGA
mu: TGGGCCTCAGGGCTCCCCTGAGCAGAAGGGTGAGATGGTGA		 ctgg|GCAG
Donor marginally increased25767wt: 0.8507 / mu: 0.9089 (marginal change - not scored)wt: TGGGCAGAAGGGTGA
mu: TGAGCAGAAGGGTGA		 GGCA|gaag
Donor increased25765wt: 0.84 / mu: 0.96wt: CCTGGGCAGAAGGGT
mu: CCTGAGCAGAAGGGT		 TGGG|caga
Donor gained257640.79mu: CCCTGAGCAGAAGGG CTGA|gcag
Donor gained257590.51mu: GGCTCCCCTGAGCAG CTCC|cctg
Donor gained257620.42mu: TCCCCTGAGCAGAAG CCCT|gagc
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1394DRGLPGPQGSPGQKGEMGIPGASG
mutated  not conserved    1394DRGLPGPQGSPEQKGEMGIPGAS
Ptroglodytes  all identical  ENSPTRG00000018033  1403GQKGEMGIPGAS
Mmulatta  all identical  ENSMMUG00000003850  1447TGIPGASGPIGPGGPPGLPGPA
Fcatus  all identical  ENSFCAG00000004005  1068DRGLPGPQGSAGQKGETGIPGAS
Mmusculus  all identical  ENSMUSG00000024330  1394DRGLPGPQGSPGQKGETGIPGAS
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000005534  1508DRGMPGPHGSNGPKGETG
Drerio  all identical  ENSDARG00000012422  1687GPQGSTGPKGETGISGGT
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000012724  1671DRGLPGPH---------GIPGVT
protein features
start (aa)end (aa)featuredetails 
4871500REGIONTriple-helical region.lost
14411499DOMAINCollagen-like 8.might get lost (downstream of altered splice site)
15011736PROPEPC-terminal propeptide. /FTId=PRO_0000005841.might get lost (downstream of altered splice site)
15411735DOMAINFibrillar collagen NC1.might get lost (downstream of altered splice site)
15521552CONFLICTE -> R (in Ref. 7; AAA52034).might get lost (downstream of altered splice site)
15711571DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15711571DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15771577DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15771577DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15941594DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15941594DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
16031603DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
16031603DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
16041604CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16121612DISULFIDBy similarity.might get lost (downstream of altered splice site)
16551655DISULFIDBy similarity.might get lost (downstream of altered splice site)
16891689DISULFIDBy similarity.might get lost (downstream of altered splice site)
17331733DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5070 / 5070
position (AA) of stopcodon in wt / mu AA sequence 1690 / 1690
position of stopcodon in wt / mu cDNA 5298 / 5298
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 229 / 229
chromosome 6
strand -1
last intron/exon boundary 5158
theoretical NMD boundary in CDS 4879
length of CDS 5070
coding sequence (CDS) position 4181
cDNA position
(for ins/del: last normal base / first normal base)		 4409
gDNA position
(for ins/del: last normal base / first normal base)		 25764
chromosomal position
(for ins/del: last normal base / first normal base)		 33134513
original gDNA sequence snippet TGGGCCTCAGGGCTCCCCTGGGCAGAAGGGTGAGATGGTGA
altered gDNA sequence snippet TGGGCCTCAGGGCTCCCCTGAGCAGAAGGGTGAGATGGTGA
original cDNA sequence snippet TGGGCCTCAGGGCTCCCCTGGGCAGAAGGGTGAGATGGGTA
altered cDNA sequence snippet TGGGCCTCAGGGCTCCCCTGAGCAGAAGGGTGAGATGGGTA
wildtype AA sequence MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQEQTD LQVPPTADRF QAEEYGEGGT DPPEGPYDYT
YGYGDDYREE TELGPALSAE TAHSGAAAHG PRGLKGEKGE PAVLEPGMLV EGPPGPEGPA
GLIGPPGIQG NPGPVGDPGE RGPPGRAGLP GSDGAPGPPG TSLMLPFRFG SGGGDKGPVV
AAQEAQAQAI LQQARLALRG PPGPMGYTGR PGPLGQPGSP GLKGESGDLG PQGPRGPQGL
TGPPGKAGRR GRAGADGARG MPGDPGVKGD RGFDGLPGLP GEKGHRGDTG AQGLPGPPGE
DGERGDDGEI GPRGLPGESG PRGLLGPKGP PGIPGPPGVR GMDGPQGPKG SLGPQGEPGP
PGQQGTPGTQ GLPGPQGAIG PHGEKGPQGK PGLPGMPGSD GPPGHPGKEG PPGTKGNQGP
SGPQGPLGYP GPRGVKGVDG IRGLKGHKGE KGEDGFPGFK GDIGVKGDRG EVGVPGSRGE
DGPEGPKGRT GPTGDPGPPG LMGEKGKLGV PGLPGYPGRQ GPKGSLGFPG FPGASGEKGA
RGLSGKSGPR GERGPTGPRG QRGPRGATGK SGAKGTSGGD GPHGPPGERG LPGPQGPNGF
PGPKGPPGPP GKDGLPGHPG QRGEVGFQGK TGPPGPPGVV GPQGAAGETG PMGERGHPGP
PGPPGEQGLP GTAGKEGTKG DPGPPGAPGK DGPAGLRGFP GERGLPGTAG GPGLKGNEGP
SGPPGPAGSP GERGAAGSGG PIGPPGRPGP QGPPGAAGEK GVPGEKGPIG PTGRDGVQGP
VGLPGPAGPP GVAGEDGDKG EVGDPGQKGT KGNKGEHGPP GPPGPIGPVG QPGAAGADGE
PGARGPQGHF GAKGDEGTRG FNGPPGPIGL QGLPGPSGEK GETGDVGPMG PPGPPGPRGP
AGPNGADGPQ GPPGGVGNLG PPGEKGEPGE SGSPGIQGEP GVKGPRGERG EKGESGQPGE
PGPPGPKGPT GDDGPKGNPG PVGFPGDPGP PGEGGPRGQD GAKGDRGEDG EPGQPGSPGP
TGENGPPGPL GKRGPAGSPG SEGRQGGKGA KGDPGAIGAP GKTGPVGPAG PAGKPGPDGL
RGLPGSVGQQ GRPGATGQAG PPGPVGPPGL PGLRGDAGAK GEKGHPGLIG LIGPPGEQGE
KGDRGLPGPQ GSPGQKGEMG IPGASGPIGP GGPPGLPGPA GPKGAKGATG PGGPKGEKGV
QGPPGHPGPP GEVIQPLPIQ MPKKTRRSVD GSRLMQEDEA IPTGGAPGSP GGLEEIFGSL
DSLREEIEQM RRPTGTQDSP ARTCQDLKLC HPELPDGEYW VDPNQGCARD AFRVFCNFTA
GGETCVTPRD DVTQFSYVDS EGSPVGVVQL TFLRLLSVSA HQDVSYPCSG AARDGPLRLR
GANEDELSPE TSPYVKEFRD GCQTQQGRTV LEVRTPVLEQ LPVLDASFSD LGAPPRRGGV
LLGPVCFMG*
mutated AA sequence MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQEQTD LQVPPTADRF QAEEYGEGGT DPPEGPYDYT
YGYGDDYREE TELGPALSAE TAHSGAAAHG PRGLKGEKGE PAVLEPGMLV EGPPGPEGPA
GLIGPPGIQG NPGPVGDPGE RGPPGRAGLP GSDGAPGPPG TSLMLPFRFG SGGGDKGPVV
AAQEAQAQAI LQQARLALRG PPGPMGYTGR PGPLGQPGSP GLKGESGDLG PQGPRGPQGL
TGPPGKAGRR GRAGADGARG MPGDPGVKGD RGFDGLPGLP GEKGHRGDTG AQGLPGPPGE
DGERGDDGEI GPRGLPGESG PRGLLGPKGP PGIPGPPGVR GMDGPQGPKG SLGPQGEPGP
PGQQGTPGTQ GLPGPQGAIG PHGEKGPQGK PGLPGMPGSD GPPGHPGKEG PPGTKGNQGP
SGPQGPLGYP GPRGVKGVDG IRGLKGHKGE KGEDGFPGFK GDIGVKGDRG EVGVPGSRGE
DGPEGPKGRT GPTGDPGPPG LMGEKGKLGV PGLPGYPGRQ GPKGSLGFPG FPGASGEKGA
RGLSGKSGPR GERGPTGPRG QRGPRGATGK SGAKGTSGGD GPHGPPGERG LPGPQGPNGF
PGPKGPPGPP GKDGLPGHPG QRGEVGFQGK TGPPGPPGVV GPQGAAGETG PMGERGHPGP
PGPPGEQGLP GTAGKEGTKG DPGPPGAPGK DGPAGLRGFP GERGLPGTAG GPGLKGNEGP
SGPPGPAGSP GERGAAGSGG PIGPPGRPGP QGPPGAAGEK GVPGEKGPIG PTGRDGVQGP
VGLPGPAGPP GVAGEDGDKG EVGDPGQKGT KGNKGEHGPP GPPGPIGPVG QPGAAGADGE
PGARGPQGHF GAKGDEGTRG FNGPPGPIGL QGLPGPSGEK GETGDVGPMG PPGPPGPRGP
AGPNGADGPQ GPPGGVGNLG PPGEKGEPGE SGSPGIQGEP GVKGPRGERG EKGESGQPGE
PGPPGPKGPT GDDGPKGNPG PVGFPGDPGP PGEGGPRGQD GAKGDRGEDG EPGQPGSPGP
TGENGPPGPL GKRGPAGSPG SEGRQGGKGA KGDPGAIGAP GKTGPVGPAG PAGKPGPDGL
RGLPGSVGQQ GRPGATGQAG PPGPVGPPGL PGLRGDAGAK GEKGHPGLIG LIGPPGEQGE
KGDRGLPGPQ GSPEQKGEMG IPGASGPIGP GGPPGLPGPA GPKGAKGATG PGGPKGEKGV
QGPPGHPGPP GEVIQPLPIQ MPKKTRRSVD GSRLMQEDEA IPTGGAPGSP GGLEEIFGSL
DSLREEIEQM RRPTGTQDSP ARTCQDLKLC HPELPDGEYW VDPNQGCARD AFRVFCNFTA
GGETCVTPRD DVTQFSYVDS EGSPVGVVQL TFLRLLSVSA HQDVSYPCSG AARDGPLRLR
GANEDELSPE TSPYVKEFRD GCQTQQGRTV LEVRTPVLEQ LPVLDASFSD LGAPPRRGGV
LLGPVCFMG*
speed 0.71 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999792516987 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM980386)
  • known disease mutation: rs17123 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:33134513C>TN/A show variant in all transcripts   IGV
HGNC symbol COL11A2
Ensembl transcript ID ENST00000395197
Genbank transcript ID N/A
UniProt peptide P13942
alteration type single base exchange
alteration region CDS
DNA changes c.4142G>A
cDNA.4370G>A
g.25764G>A
AA changes G1381E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1381
frameshift no
known variant Reference ID: rs121912946
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs17123 (pathogenic for Otospondylomegaepiphyseal dysplasia, autosomal dominant) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM980386)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980386)
known disease mutation at this position, please check HGMD for details (HGMD ID CM980386)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0591
4.7781
(flanking)4.7780.998
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased25764wt: 0.5682 / mu: 0.6376 (marginal change - not scored)wt: TGGGCCTCAGGGCTCCCCTGGGCAGAAGGGTGAGATGGTGA
mu: TGGGCCTCAGGGCTCCCCTGAGCAGAAGGGTGAGATGGTGA		 ctgg|GCAG
Donor marginally increased25767wt: 0.8507 / mu: 0.9089 (marginal change - not scored)wt: TGGGCAGAAGGGTGA
mu: TGAGCAGAAGGGTGA		 GGCA|gaag
Donor increased25765wt: 0.84 / mu: 0.96wt: CCTGGGCAGAAGGGT
mu: CCTGAGCAGAAGGGT		 TGGG|caga
Donor gained257640.79mu: CCCTGAGCAGAAGGG CTGA|gcag
Donor gained257590.51mu: GGCTCCCCTGAGCAG CTCC|cctg
Donor gained257620.42mu: TCCCCTGAGCAGAAG CCCT|gagc
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1381DRGLPGPQGSPGQKGEMGIPGASG
mutated  not conserved    1381EQKGEMGIPGAS
Ptroglodytes  all identical  ENSPTRG00000018033  1403GQKGEMGIPGAS
Mmulatta  all identical  ENSMMUG00000003850  1447TGIPGASGPIGPGGPPGLPGPA
Fcatus  all identical  ENSFCAG00000004005  1068DRGLPGPQGSAGQKGETGIPGAS
Mmusculus  all identical  ENSMUSG00000024330  1394DRGLPGPQGSPGQKGETGIPGAS
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000005534  1508DRGMPGPHGSNGPKGETGMPGGT
Drerio  all identical  ENSDARG00000012422  1687DRGMPGPQGSTGPKGETGISGGT
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000012724  1671DRGLPGPH---------GIPG
protein features
start (aa)end (aa)featuredetails 
4871500REGIONTriple-helical region.lost
14411499DOMAINCollagen-like 8.might get lost (downstream of altered splice site)
15011736PROPEPC-terminal propeptide. /FTId=PRO_0000005841.might get lost (downstream of altered splice site)
15411735DOMAINFibrillar collagen NC1.might get lost (downstream of altered splice site)
15521552CONFLICTE -> R (in Ref. 7; AAA52034).might get lost (downstream of altered splice site)
15711571DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15711571DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15771577DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15771577DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15941594DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15941594DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
16031603DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
16031603DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
16041604CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16121612DISULFIDBy similarity.might get lost (downstream of altered splice site)
16551655DISULFIDBy similarity.might get lost (downstream of altered splice site)
16891689DISULFIDBy similarity.might get lost (downstream of altered splice site)
17331733DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5031 / 5031
position (AA) of stopcodon in wt / mu AA sequence 1677 / 1677
position of stopcodon in wt / mu cDNA 5259 / 5259
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 229 / 229
chromosome 6
strand -1
last intron/exon boundary 5119
theoretical NMD boundary in CDS 4840
length of CDS 5031
coding sequence (CDS) position 4142
cDNA position
(for ins/del: last normal base / first normal base)		 4370
gDNA position
(for ins/del: last normal base / first normal base)		 25764
chromosomal position
(for ins/del: last normal base / first normal base)		 33134513
original gDNA sequence snippet TGGGCCTCAGGGCTCCCCTGGGCAGAAGGGTGAGATGGTGA
altered gDNA sequence snippet TGGGCCTCAGGGCTCCCCTGAGCAGAAGGGTGAGATGGTGA
original cDNA sequence snippet TGGGCCTCAGGGCTCCCCTGGGCAGAAGGGTGAGATGGGTA
altered cDNA sequence snippet TGGGCCTCAGGGCTCCCCTGAGCAGAAGGGTGAGATGGGTA
wildtype AA sequence MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQPTES LYYDYEPPYY DVMTTGTTPD YQDPTPGEEE
EILESSLLPP LEEAAHGPRG LKGEKGEPAV LEPGMLVEGP PGPEGPAGLI GPPGIQGNPG
PVGDPGERGP PGRAGLPGSD GAPGPPGTSL MLPFRFGSGG GDKGPVVAAQ EAQAQAILQQ
ARLALRGPPG PMGYTGRPGP LGQPGSPGLK GESGDLGPQG PRGPQGLTGP PGKAGRRGRA
GADGARGMPG DPGVKGDRGF DGLPGLPGEK GHRGDTGAQG LPGPPGEDGE RGDDGEIGPR
GLPGESGPRG LLGPKGPPGI PGPPGVRGMD GPQGPKGSLG PQGEPGPPGQ QGTPGTQGLP
GPQGAIGPHG EKGPQGKPGL PGMPGSDGPP GHPGKEGPPG TKGNQGPSGP QGPLGYPGPR
GVKGVDGIRG LKGHKGEKGE DGFPGFKGDI GVKGDRGEVG VPGSRGEDGP EGPKGRTGPT
GDPGPPGLMG EKGKLGVPGL PGYPGRQGPK GSLGFPGFPG ASGEKGARGL SGKSGPRGER
GPTGPRGQRG PRGATGKSGA KGTSGGDGPH GPPGERGLPG PQGPNGFPGP KGPPGPPGKD
GLPGHPGQRG EVGFQGKTGP PGPPGVVGPQ GAAGETGPMG ERGHPGPPGP PGEQGLPGTA
GKEGTKGDPG PPGAPGKDGP AGLRGFPGER GLPGTAGGPG LKGNEGPSGP PGPAGSPGER
GAAGSGGPIG PPGRPGPQGP PGAAGEKGVP GEKGPIGPTG RDGVQGPVGL PGPAGPPGVA
GEDGDKGEVG DPGQKGTKGN KGEHGPPGPP GPIGPVGQPG AAGADGEPGA RGPQGHFGAK
GDEGTRGFNG PPGPIGLQGL PGPSGEKGET GDVGPMGPPG PPGPRGPAGP NGADGPQGPP
GGVGNLGPPG EKGEPGESGS PGIQGEPGVK GPRGERGEKG ESGQPGEPGP PGPKGPTGDD
GPKGNPGPVG FPGDPGPPGE GGPRGQDGAK GDRGEDGEPG QPGSPGPTGE NGPPGPLGKR
GPAGSPGSEG RQGGKGAKGD PGAIGAPGKT GPVGPAGPAG KPGPDGLRGL PGSVGQQGRP
GATGQAGPPG PVGPPGLPGL RGDAGAKGEK GHPGLIGLIG PPGEQGEKGD RGLPGPQGSP
GQKGEMGIPG ASGPIGPGGP PGLPGPAGPK GAKGATGPGG PKGEKGVQGP PGHPGPPGEV
IQPLPIQMPK KTRRSVDGSR LMQEDEAIPT GGAPGSPGGL EEIFGSLDSL REEIEQMRRP
TGTQDSPART CQDLKLCHPE LPDGEYWVDP NQGCARDAFR VFCNFTAGGE TCVTPRDDVT
QFSYVDSEGS PVGVVQLTFL RLLSVSAHQD VSYPCSGAAR DGPLRLRGAN EDELSPETSP
YVKEFRDGCQ TQQGRTVLEV RTPVLEQLPV LDASFSDLGA PPRRGGVLLG PVCFMG*
mutated AA sequence MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQPTES LYYDYEPPYY DVMTTGTTPD YQDPTPGEEE
EILESSLLPP LEEAAHGPRG LKGEKGEPAV LEPGMLVEGP PGPEGPAGLI GPPGIQGNPG
PVGDPGERGP PGRAGLPGSD GAPGPPGTSL MLPFRFGSGG GDKGPVVAAQ EAQAQAILQQ
ARLALRGPPG PMGYTGRPGP LGQPGSPGLK GESGDLGPQG PRGPQGLTGP PGKAGRRGRA
GADGARGMPG DPGVKGDRGF DGLPGLPGEK GHRGDTGAQG LPGPPGEDGE RGDDGEIGPR
GLPGESGPRG LLGPKGPPGI PGPPGVRGMD GPQGPKGSLG PQGEPGPPGQ QGTPGTQGLP
GPQGAIGPHG EKGPQGKPGL PGMPGSDGPP GHPGKEGPPG TKGNQGPSGP QGPLGYPGPR
GVKGVDGIRG LKGHKGEKGE DGFPGFKGDI GVKGDRGEVG VPGSRGEDGP EGPKGRTGPT
GDPGPPGLMG EKGKLGVPGL PGYPGRQGPK GSLGFPGFPG ASGEKGARGL SGKSGPRGER
GPTGPRGQRG PRGATGKSGA KGTSGGDGPH GPPGERGLPG PQGPNGFPGP KGPPGPPGKD
GLPGHPGQRG EVGFQGKTGP PGPPGVVGPQ GAAGETGPMG ERGHPGPPGP PGEQGLPGTA
GKEGTKGDPG PPGAPGKDGP AGLRGFPGER GLPGTAGGPG LKGNEGPSGP PGPAGSPGER
GAAGSGGPIG PPGRPGPQGP PGAAGEKGVP GEKGPIGPTG RDGVQGPVGL PGPAGPPGVA
GEDGDKGEVG DPGQKGTKGN KGEHGPPGPP GPIGPVGQPG AAGADGEPGA RGPQGHFGAK
GDEGTRGFNG PPGPIGLQGL PGPSGEKGET GDVGPMGPPG PPGPRGPAGP NGADGPQGPP
GGVGNLGPPG EKGEPGESGS PGIQGEPGVK GPRGERGEKG ESGQPGEPGP PGPKGPTGDD
GPKGNPGPVG FPGDPGPPGE GGPRGQDGAK GDRGEDGEPG QPGSPGPTGE NGPPGPLGKR
GPAGSPGSEG RQGGKGAKGD PGAIGAPGKT GPVGPAGPAG KPGPDGLRGL PGSVGQQGRP
GATGQAGPPG PVGPPGLPGL RGDAGAKGEK GHPGLIGLIG PPGEQGEKGD RGLPGPQGSP
EQKGEMGIPG ASGPIGPGGP PGLPGPAGPK GAKGATGPGG PKGEKGVQGP PGHPGPPGEV
IQPLPIQMPK KTRRSVDGSR LMQEDEAIPT GGAPGSPGGL EEIFGSLDSL REEIEQMRRP
TGTQDSPART CQDLKLCHPE LPDGEYWVDP NQGCARDAFR VFCNFTAGGE TCVTPRDDVT
QFSYVDSEGS PVGVVQLTFL RLLSVSAHQD VSYPCSGAAR DGPLRLRGAN EDELSPETSP
YVKEFRDGCQ TQQGRTVLEV RTPVLEQLPV LDASFSDLGA PPRRGGVLLG PVCFMG*
speed 1.03 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999792516987 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM980386)
  • known disease mutation: rs17123 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:33134513C>TN/A show variant in all transcripts   IGV
HGNC symbol COL11A2
Ensembl transcript ID ENST00000374712
Genbank transcript ID N/A
UniProt peptide P13942
alteration type single base exchange
alteration region CDS
DNA changes c.4079G>A
cDNA.4307G>A
g.25764G>A
AA changes G1360E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1360
frameshift no
known variant Reference ID: rs121912946
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs17123 (pathogenic for Otospondylomegaepiphyseal dysplasia, autosomal dominant) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM980386)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980386)
known disease mutation at this position, please check HGMD for details (HGMD ID CM980386)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0591
4.7781
(flanking)4.7780.998
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased25764wt: 0.5682 / mu: 0.6376 (marginal change - not scored)wt: TGGGCCTCAGGGCTCCCCTGGGCAGAAGGGTGAGATGGTGA
mu: TGGGCCTCAGGGCTCCCCTGAGCAGAAGGGTGAGATGGTGA		 ctgg|GCAG
Donor marginally increased25767wt: 0.8507 / mu: 0.9089 (marginal change - not scored)wt: TGGGCAGAAGGGTGA
mu: TGAGCAGAAGGGTGA		 GGCA|gaag
Donor increased25765wt: 0.84 / mu: 0.96wt: CCTGGGCAGAAGGGT
mu: CCTGAGCAGAAGGGT		 TGGG|caga
Donor gained257640.79mu: CCCTGAGCAGAAGGG CTGA|gcag
Donor gained257590.51mu: GGCTCCCCTGAGCAG CTCC|cctg
Donor gained257620.42mu: TCCCCTGAGCAGAAG CCCT|gagc
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1360DRGLPGPQGSPGQKGEMGIPGASG
mutated  not conserved    1360DRGLPGPQGSPEQKGEMGIPGAS
Ptroglodytes  all identical  ENSPTRG00000018033  1403PGPQGSPGQKGEMGIPGAS
Mmulatta  all identical  ENSMMUG00000003850  1450-TGIPGASGPIGPGGPPGLPGPA
Fcatus  all identical  ENSFCAG00000004005  1068DRGLPGPQGSAGQKGETGIPGAS
Mmusculus  all identical  ENSMUSG00000024330  1394DRGLPGPQGSPGQKGETGIPGAS
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000005534  1508DRGMPGPHGSNGPKGETGMPGGT
Drerio  all identical  ENSDARG00000012422  1687DRGMPGPQGSTGPKGETGISGGT
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000012724  1671DRGLPGPH---------GIPGVT
protein features
start (aa)end (aa)featuredetails 
4871500REGIONTriple-helical region.lost
14411499DOMAINCollagen-like 8.might get lost (downstream of altered splice site)
15011736PROPEPC-terminal propeptide. /FTId=PRO_0000005841.might get lost (downstream of altered splice site)
15411735DOMAINFibrillar collagen NC1.might get lost (downstream of altered splice site)
15521552CONFLICTE -> R (in Ref. 7; AAA52034).might get lost (downstream of altered splice site)
15711571DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15711571DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15771577DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15771577DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15941594DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15941594DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
16031603DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
16031603DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
16041604CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16121612DISULFIDBy similarity.might get lost (downstream of altered splice site)
16551655DISULFIDBy similarity.might get lost (downstream of altered splice site)
16891689DISULFIDBy similarity.might get lost (downstream of altered splice site)
17331733DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4968 / 4968
position (AA) of stopcodon in wt / mu AA sequence 1656 / 1656
position of stopcodon in wt / mu cDNA 5196 / 5196
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 229 / 229
chromosome 6
strand -1
last intron/exon boundary 5056
theoretical NMD boundary in CDS 4777
length of CDS 4968
coding sequence (CDS) position 4079
cDNA position
(for ins/del: last normal base / first normal base)		 4307
gDNA position
(for ins/del: last normal base / first normal base)		 25764
chromosomal position
(for ins/del: last normal base / first normal base)		 33134513
original gDNA sequence snippet TGGGCCTCAGGGCTCCCCTGGGCAGAAGGGTGAGATGGTGA
altered gDNA sequence snippet TGGGCCTCAGGGCTCCCCTGAGCAGAAGGGTGAGATGGTGA
original cDNA sequence snippet TGGGCCTCAGGGCTCCCCTGGGCAGAAGGGTGAGATGGGTA
altered cDNA sequence snippet TGGGCCTCAGGGCTCCCCTGAGCAGAAGGGTGAGATGGGTA
wildtype AA sequence MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQPTES LYYDYEPPYY DVMTTGTTPD YQAAHGPRGL
KGEKGEPAVL EPGMLVEGPP GPEGPAGLIG PPGIQGNPGP VGDPGERGPP GRAGLPGSDG
APGPPGTSLM LPFRFGSGGG DKGPVVAAQE AQAQAILQQA RLALRGPPGP MGYTGRPGPL
GQPGSPGLKG ESGDLGPQGP RGPQGLTGPP GKAGRRGRAG ADGARGMPGD PGVKGDRGFD
GLPGLPGEKG HRGDTGAQGL PGPPGEDGER GDDGEIGPRG LPGESGPRGL LGPKGPPGIP
GPPGVRGMDG PQGPKGSLGP QGEPGPPGQQ GTPGTQGLPG PQGAIGPHGE KGPQGKPGLP
GMPGSDGPPG HPGKEGPPGT KGNQGPSGPQ GPLGYPGPRG VKGVDGIRGL KGHKGEKGED
GFPGFKGDIG VKGDRGEVGV PGSRGEDGPE GPKGRTGPTG DPGPPGLMGE KGKLGVPGLP
GYPGRQGPKG SLGFPGFPGA SGEKGARGLS GKSGPRGERG PTGPRGQRGP RGATGKSGAK
GTSGGDGPHG PPGERGLPGP QGPNGFPGPK GPPGPPGKDG LPGHPGQRGE VGFQGKTGPP
GPPGVVGPQG AAGETGPMGE RGHPGPPGPP GEQGLPGTAG KEGTKGDPGP PGAPGKDGPA
GLRGFPGERG LPGTAGGPGL KGNEGPSGPP GPAGSPGERG AAGSGGPIGP PGRPGPQGPP
GAAGEKGVPG EKGPIGPTGR DGVQGPVGLP GPAGPPGVAG EDGDKGEVGD PGQKGTKGNK
GEHGPPGPPG PIGPVGQPGA AGADGEPGAR GPQGHFGAKG DEGTRGFNGP PGPIGLQGLP
GPSGEKGETG DVGPMGPPGP PGPRGPAGPN GADGPQGPPG GVGNLGPPGE KGEPGESGSP
GIQGEPGVKG PRGERGEKGE SGQPGEPGPP GPKGPTGDDG PKGNPGPVGF PGDPGPPGEG
GPRGQDGAKG DRGEDGEPGQ PGSPGPTGEN GPPGPLGKRG PAGSPGSEGR QGGKGAKGDP
GAIGAPGKTG PVGPAGPAGK PGPDGLRGLP GSVGQQGRPG ATGQAGPPGP VGPPGLPGLR
GDAGAKGEKG HPGLIGLIGP PGEQGEKGDR GLPGPQGSPG QKGEMGIPGA SGPIGPGGPP
GLPGPAGPKG AKGATGPGGP KGEKGVQGPP GHPGPPGEVI QPLPIQMPKK TRRSVDGSRL
MQEDEAIPTG GAPGSPGGLE EIFGSLDSLR EEIEQMRRPT GTQDSPARTC QDLKLCHPEL
PDGEYWVDPN QGCARDAFRV FCNFTAGGET CVTPRDDVTQ FSYVDSEGSP VGVVQLTFLR
LLSVSAHQDV SYPCSGAARD GPLRLRGANE DELSPETSPY VKEFRDGCQT QQGRTVLEVR
TPVLEQLPVL DASFSDLGAP PRRGGVLLGP VCFMG*
mutated AA sequence MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQPTES LYYDYEPPYY DVMTTGTTPD YQAAHGPRGL
KGEKGEPAVL EPGMLVEGPP GPEGPAGLIG PPGIQGNPGP VGDPGERGPP GRAGLPGSDG
APGPPGTSLM LPFRFGSGGG DKGPVVAAQE AQAQAILQQA RLALRGPPGP MGYTGRPGPL
GQPGSPGLKG ESGDLGPQGP RGPQGLTGPP GKAGRRGRAG ADGARGMPGD PGVKGDRGFD
GLPGLPGEKG HRGDTGAQGL PGPPGEDGER GDDGEIGPRG LPGESGPRGL LGPKGPPGIP
GPPGVRGMDG PQGPKGSLGP QGEPGPPGQQ GTPGTQGLPG PQGAIGPHGE KGPQGKPGLP
GMPGSDGPPG HPGKEGPPGT KGNQGPSGPQ GPLGYPGPRG VKGVDGIRGL KGHKGEKGED
GFPGFKGDIG VKGDRGEVGV PGSRGEDGPE GPKGRTGPTG DPGPPGLMGE KGKLGVPGLP
GYPGRQGPKG SLGFPGFPGA SGEKGARGLS GKSGPRGERG PTGPRGQRGP RGATGKSGAK
GTSGGDGPHG PPGERGLPGP QGPNGFPGPK GPPGPPGKDG LPGHPGQRGE VGFQGKTGPP
GPPGVVGPQG AAGETGPMGE RGHPGPPGPP GEQGLPGTAG KEGTKGDPGP PGAPGKDGPA
GLRGFPGERG LPGTAGGPGL KGNEGPSGPP GPAGSPGERG AAGSGGPIGP PGRPGPQGPP
GAAGEKGVPG EKGPIGPTGR DGVQGPVGLP GPAGPPGVAG EDGDKGEVGD PGQKGTKGNK
GEHGPPGPPG PIGPVGQPGA AGADGEPGAR GPQGHFGAKG DEGTRGFNGP PGPIGLQGLP
GPSGEKGETG DVGPMGPPGP PGPRGPAGPN GADGPQGPPG GVGNLGPPGE KGEPGESGSP
GIQGEPGVKG PRGERGEKGE SGQPGEPGPP GPKGPTGDDG PKGNPGPVGF PGDPGPPGEG
GPRGQDGAKG DRGEDGEPGQ PGSPGPTGEN GPPGPLGKRG PAGSPGSEGR QGGKGAKGDP
GAIGAPGKTG PVGPAGPAGK PGPDGLRGLP GSVGQQGRPG ATGQAGPPGP VGPPGLPGLR
GDAGAKGEKG HPGLIGLIGP PGEQGEKGDR GLPGPQGSPE QKGEMGIPGA SGPIGPGGPP
GLPGPAGPKG AKGATGPGGP KGEKGVQGPP GHPGPPGEVI QPLPIQMPKK TRRSVDGSRL
MQEDEAIPTG GAPGSPGGLE EIFGSLDSLR EEIEQMRRPT GTQDSPARTC QDLKLCHPEL
PDGEYWVDPN QGCARDAFRV FCNFTAGGET CVTPRDDVTQ FSYVDSEGSP VGVVQLTFLR
LLSVSAHQDV SYPCSGAARD GPLRLRGANE DELSPETSPY VKEFRDGCQT QQGRTVLEVR
TPVLEQLPVL DASFSDLGAP PRRGGVLLGP VCFMG*
speed 0.71 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999792516987 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM980386)
  • known disease mutation: rs17123 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:33134513C>TN/A show variant in all transcripts   IGV
HGNC symbol COL11A2
Ensembl transcript ID ENST00000361917
Genbank transcript ID NM_080679
UniProt peptide P13942
alteration type single base exchange
alteration region CDS
DNA changes c.4001G>A
cDNA.4229G>A
g.25764G>A
AA changes G1334E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1334
frameshift no
known variant Reference ID: rs121912946
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs17123 (pathogenic for Otospondylomegaepiphyseal dysplasia, autosomal dominant) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM980386)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980386)
known disease mutation at this position, please check HGMD for details (HGMD ID CM980386)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0591
4.7781
(flanking)4.7780.998
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased25764wt: 0.5682 / mu: 0.6376 (marginal change - not scored)wt: TGGGCCTCAGGGCTCCCCTGGGCAGAAGGGTGAGATGGTGA
mu: TGGGCCTCAGGGCTCCCCTGAGCAGAAGGGTGAGATGGTGA		 ctgg|GCAG
Donor marginally increased25767wt: 0.8507 / mu: 0.9089 (marginal change - not scored)wt: TGGGCAGAAGGGTGA
mu: TGAGCAGAAGGGTGA		 GGCA|gaag
Donor increased25765wt: 0.84 / mu: 0.96wt: CCTGGGCAGAAGGGT
mu: CCTGAGCAGAAGGGT		 TGGG|caga
Donor gained257640.79mu: CCCTGAGCAGAAGGG CTGA|gcag
Donor gained257590.51mu: GGCTCCCCTGAGCAG CTCC|cctg
Donor gained257620.42mu: TCCCCTGAGCAGAAG CCCT|gagc
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1334DRGLPGPQGSPGQKGEMGIPGASG
mutated  not conserved    1334DRGLPGPQGSPEQKGEMGIPGAS
Ptroglodytes  all identical  ENSPTRG00000018033  1403DRGLPGPQGSPGQKGEMGIPGAS
Mmulatta  all identical  ENSMMUG00000003850  1447TGIPGASGPIGPGGPPGLPGPA
Fcatus  all identical  ENSFCAG00000004005  1068DRGLPGPQGSAGQKGETGIPGAS
Mmusculus  all identical  ENSMUSG00000024330  1394DRGLPGPQGSPGQKGETGIPGAS
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000005534  1508DRGMPGPHGSNGPKGETGMPGGT
Drerio  all identical  ENSDARG00000012422  1687DRGMPGPQGSTGPKGETGISGGT
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000012724  1671DRGLPGPH---------GIPGVT
protein features
start (aa)end (aa)featuredetails 
4871500REGIONTriple-helical region.lost
14411499DOMAINCollagen-like 8.might get lost (downstream of altered splice site)
15011736PROPEPC-terminal propeptide. /FTId=PRO_0000005841.might get lost (downstream of altered splice site)
15411735DOMAINFibrillar collagen NC1.might get lost (downstream of altered splice site)
15521552CONFLICTE -> R (in Ref. 7; AAA52034).might get lost (downstream of altered splice site)
15711571DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15711571DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15771577DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15771577DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15941594DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15941594DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
16031603DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
16031603DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
16041604CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16121612DISULFIDBy similarity.might get lost (downstream of altered splice site)
16551655DISULFIDBy similarity.might get lost (downstream of altered splice site)
16891689DISULFIDBy similarity.might get lost (downstream of altered splice site)
17331733DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4890 / 4890
position (AA) of stopcodon in wt / mu AA sequence 1630 / 1630
position of stopcodon in wt / mu cDNA 5118 / 5118
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 229 / 229
chromosome 6
strand -1
last intron/exon boundary 4978
theoretical NMD boundary in CDS 4699
length of CDS 4890
coding sequence (CDS) position 4001
cDNA position
(for ins/del: last normal base / first normal base)		 4229
gDNA position
(for ins/del: last normal base / first normal base)		 25764
chromosomal position
(for ins/del: last normal base / first normal base)		 33134513
original gDNA sequence snippet TGGGCCTCAGGGCTCCCCTGGGCAGAAGGGTGAGATGGTGA
altered gDNA sequence snippet TGGGCCTCAGGGCTCCCCTGAGCAGAAGGGTGAGATGGTGA
original cDNA sequence snippet TGGGCCTCAGGGCTCCCCTGGGCAGAAGGGTGAGATGGGTA
altered cDNA sequence snippet TGGGCCTCAGGGCTCCCCTGAGCAGAAGGGTGAGATGGGTA
wildtype AA sequence MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQAAHG PRGLKGEKGE PAVLEPGMLV EGPPGPEGPA
GLIGPPGIQG NPGPVGDPGE RGPPGRAGLP GSDGAPGPPG TSLMLPFRFG SGGGDKGPVV
AAQEAQAQAI LQQARLALRG PPGPMGYTGR PGPLGQPGSP GLKGESGDLG PQGPRGPQGL
TGPPGKAGRR GRAGADGARG MPGDPGVKGD RGFDGLPGLP GEKGHRGDTG AQGLPGPPGE
DGERGDDGEI GPRGLPGESG PRGLLGPKGP PGIPGPPGVR GMDGPQGPKG SLGPQGEPGP
PGQQGTPGTQ GLPGPQGAIG PHGEKGPQGK PGLPGMPGSD GPPGHPGKEG PPGTKGNQGP
SGPQGPLGYP GPRGVKGVDG IRGLKGHKGE KGEDGFPGFK GDIGVKGDRG EVGVPGSRGE
DGPEGPKGRT GPTGDPGPPG LMGEKGKLGV PGLPGYPGRQ GPKGSLGFPG FPGASGEKGA
RGLSGKSGPR GERGPTGPRG QRGPRGATGK SGAKGTSGGD GPHGPPGERG LPGPQGPNGF
PGPKGPPGPP GKDGLPGHPG QRGEVGFQGK TGPPGPPGVV GPQGAAGETG PMGERGHPGP
PGPPGEQGLP GTAGKEGTKG DPGPPGAPGK DGPAGLRGFP GERGLPGTAG GPGLKGNEGP
SGPPGPAGSP GERGAAGSGG PIGPPGRPGP QGPPGAAGEK GVPGEKGPIG PTGRDGVQGP
VGLPGPAGPP GVAGEDGDKG EVGDPGQKGT KGNKGEHGPP GPPGPIGPVG QPGAAGADGE
PGARGPQGHF GAKGDEGTRG FNGPPGPIGL QGLPGPSGEK GETGDVGPMG PPGPPGPRGP
AGPNGADGPQ GPPGGVGNLG PPGEKGEPGE SGSPGIQGEP GVKGPRGERG EKGESGQPGE
PGPPGPKGPT GDDGPKGNPG PVGFPGDPGP PGEGGPRGQD GAKGDRGEDG EPGQPGSPGP
TGENGPPGPL GKRGPAGSPG SEGRQGGKGA KGDPGAIGAP GKTGPVGPAG PAGKPGPDGL
RGLPGSVGQQ GRPGATGQAG PPGPVGPPGL PGLRGDAGAK GEKGHPGLIG LIGPPGEQGE
KGDRGLPGPQ GSPGQKGEMG IPGASGPIGP GGPPGLPGPA GPKGAKGATG PGGPKGEKGV
QGPPGHPGPP GEVIQPLPIQ MPKKTRRSVD GSRLMQEDEA IPTGGAPGSP GGLEEIFGSL
DSLREEIEQM RRPTGTQDSP ARTCQDLKLC HPELPDGEYW VDPNQGCARD AFRVFCNFTA
GGETCVTPRD DVTQFSYVDS EGSPVGVVQL TFLRLLSVSA HQDVSYPCSG AARDGPLRLR
GANEDELSPE TSPYVKEFRD GCQTQQGRTV LEVRTPVLEQ LPVLDASFSD LGAPPRRGGV
LLGPVCFMG*
mutated AA sequence MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQAAHG PRGLKGEKGE PAVLEPGMLV EGPPGPEGPA
GLIGPPGIQG NPGPVGDPGE RGPPGRAGLP GSDGAPGPPG TSLMLPFRFG SGGGDKGPVV
AAQEAQAQAI LQQARLALRG PPGPMGYTGR PGPLGQPGSP GLKGESGDLG PQGPRGPQGL
TGPPGKAGRR GRAGADGARG MPGDPGVKGD RGFDGLPGLP GEKGHRGDTG AQGLPGPPGE
DGERGDDGEI GPRGLPGESG PRGLLGPKGP PGIPGPPGVR GMDGPQGPKG SLGPQGEPGP
PGQQGTPGTQ GLPGPQGAIG PHGEKGPQGK PGLPGMPGSD GPPGHPGKEG PPGTKGNQGP
SGPQGPLGYP GPRGVKGVDG IRGLKGHKGE KGEDGFPGFK GDIGVKGDRG EVGVPGSRGE
DGPEGPKGRT GPTGDPGPPG LMGEKGKLGV PGLPGYPGRQ GPKGSLGFPG FPGASGEKGA
RGLSGKSGPR GERGPTGPRG QRGPRGATGK SGAKGTSGGD GPHGPPGERG LPGPQGPNGF
PGPKGPPGPP GKDGLPGHPG QRGEVGFQGK TGPPGPPGVV GPQGAAGETG PMGERGHPGP
PGPPGEQGLP GTAGKEGTKG DPGPPGAPGK DGPAGLRGFP GERGLPGTAG GPGLKGNEGP
SGPPGPAGSP GERGAAGSGG PIGPPGRPGP QGPPGAAGEK GVPGEKGPIG PTGRDGVQGP
VGLPGPAGPP GVAGEDGDKG EVGDPGQKGT KGNKGEHGPP GPPGPIGPVG QPGAAGADGE
PGARGPQGHF GAKGDEGTRG FNGPPGPIGL QGLPGPSGEK GETGDVGPMG PPGPPGPRGP
AGPNGADGPQ GPPGGVGNLG PPGEKGEPGE SGSPGIQGEP GVKGPRGERG EKGESGQPGE
PGPPGPKGPT GDDGPKGNPG PVGFPGDPGP PGEGGPRGQD GAKGDRGEDG EPGQPGSPGP
TGENGPPGPL GKRGPAGSPG SEGRQGGKGA KGDPGAIGAP GKTGPVGPAG PAGKPGPDGL
RGLPGSVGQQ GRPGATGQAG PPGPVGPPGL PGLRGDAGAK GEKGHPGLIG LIGPPGEQGE
KGDRGLPGPQ GSPEQKGEMG IPGASGPIGP GGPPGLPGPA GPKGAKGATG PGGPKGEKGV
QGPPGHPGPP GEVIQPLPIQ MPKKTRRSVD GSRLMQEDEA IPTGGAPGSP GGLEEIFGSL
DSLREEIEQM RRPTGTQDSP ARTCQDLKLC HPELPDGEYW VDPNQGCARD AFRVFCNFTA
GGETCVTPRD DVTQFSYVDS EGSPVGVVQL TFLRLLSVSA HQDVSYPCSG AARDGPLRLR
GANEDELSPE TSPYVKEFRD GCQTQQGRTV LEVRTPVLEQ LPVLDASFSD LGAPPRRGGV
LLGPVCFMG*
speed 0.97 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999987505526 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM980386)
  • known disease mutation: rs17123 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:33134513C>TN/A show variant in all transcripts   IGV
HGNC symbol COL11A2
Ensembl transcript ID ENST00000341947
Genbank transcript ID NM_080680
UniProt peptide P13942
alteration type single base exchange
alteration region CDS
DNA changes c.4322G>A
cDNA.4550G>A
g.25764G>A
AA changes G1441E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1441
frameshift no
known variant Reference ID: rs121912946
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs17123 (pathogenic for Otospondylomegaepiphyseal dysplasia, autosomal dominant) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM980386)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980386)
known disease mutation at this position, please check HGMD for details (HGMD ID CM980386)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0591
4.7781
(flanking)4.7780.998
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased25764wt: 0.5682 / mu: 0.6376 (marginal change - not scored)wt: TGGGCCTCAGGGCTCCCCTGGGCAGAAGGGTGAGATGGTGA
mu: TGGGCCTCAGGGCTCCCCTGAGCAGAAGGGTGAGATGGTGA		 ctgg|GCAG
Donor marginally increased25767wt: 0.8507 / mu: 0.9089 (marginal change - not scored)wt: TGGGCAGAAGGGTGA
mu: TGAGCAGAAGGGTGA		 GGCA|gaag
Donor increased25765wt: 0.84 / mu: 0.96wt: CCTGGGCAGAAGGGT
mu: CCTGAGCAGAAGGGT		 TGGG|caga
Donor gained257640.79mu: CCCTGAGCAGAAGGG CTGA|gcag
Donor gained257590.51mu: GGCTCCCCTGAGCAG CTCC|cctg
Donor gained257620.42mu: TCCCCTGAGCAGAAG CCCT|gagc
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1441DRGLPGPQGSPGQKGEMGIPGASG
mutated  not conserved    1441EQKGEMGIPGAS
Ptroglodytes  all identical  ENSPTRG00000018033  1403GQKGEMGIPGAS
Mmulatta  all identical  ENSMMUG00000003850  1447TGIPGASGPIGPGGPPGLPGPA
Fcatus  all identical  ENSFCAG00000004005  1068DRGLPGPQGSAGQKGETGIPGAS
Mmusculus  all identical  ENSMUSG00000024330  1394GQKGETGIPGAS
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000005534  1508DRGMPGPHGSNGPKGETGMPGGT
Drerio  all identical  ENSDARG00000012422  1687DRGMPGPQGSTGPKGE
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000012724  1671DRGLPGPH---------GIPGVT
protein features
start (aa)end (aa)featuredetails 
4871500REGIONTriple-helical region.lost
14411499DOMAINCollagen-like 8.lost
15011736PROPEPC-terminal propeptide. /FTId=PRO_0000005841.might get lost (downstream of altered splice site)
15411735DOMAINFibrillar collagen NC1.might get lost (downstream of altered splice site)
15521552CONFLICTE -> R (in Ref. 7; AAA52034).might get lost (downstream of altered splice site)
15711571DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15711571DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15771577DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15771577DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15941594DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
15941594DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
16031603DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
16031603DISULFIDInterchain (By similarity).might get lost (downstream of altered splice site)
16041604CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16121612DISULFIDBy similarity.might get lost (downstream of altered splice site)
16551655DISULFIDBy similarity.might get lost (downstream of altered splice site)
16891689DISULFIDBy similarity.might get lost (downstream of altered splice site)
17331733DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5211 / 5211
position (AA) of stopcodon in wt / mu AA sequence 1737 / 1737
position of stopcodon in wt / mu cDNA 5439 / 5439
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 229 / 229
chromosome 6
strand -1
last intron/exon boundary 5299
theoretical NMD boundary in CDS 5020
length of CDS 5211
coding sequence (CDS) position 4322
cDNA position
(for ins/del: last normal base / first normal base)		 4550
gDNA position
(for ins/del: last normal base / first normal base)		 25764
chromosomal position
(for ins/del: last normal base / first normal base)		 33134513
original gDNA sequence snippet TGGGCCTCAGGGCTCCCCTGGGCAGAAGGGTGAGATGGTGA
altered gDNA sequence snippet TGGGCCTCAGGGCTCCCCTGAGCAGAAGGGTGAGATGGTGA
original cDNA sequence snippet TGGGCCTCAGGGCTCCCCTGGGCAGAAGGGTGAGATGGGTA
altered cDNA sequence snippet TGGGCCTCAGGGCTCCCCTGAGCAGAAGGGTGAGATGGGTA
wildtype AA sequence MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQPTES LYYDYEPPYY DVMTTGTTPD YQDPTPGEEE
EILESSLLPP LEEEQTDLQV PPTADRFQAE EYGEGGTDPP EGPYDYTYGY GDDYREETEL
GPALSAETAH SGAAAHGPRG LKGEKGEPAV LEPGMLVEGP PGPEGPAGLI GPPGIQGNPG
PVGDPGERGP PGRAGLPGSD GAPGPPGTSL MLPFRFGSGG GDKGPVVAAQ EAQAQAILQQ
ARLALRGPPG PMGYTGRPGP LGQPGSPGLK GESGDLGPQG PRGPQGLTGP PGKAGRRGRA
GADGARGMPG DPGVKGDRGF DGLPGLPGEK GHRGDTGAQG LPGPPGEDGE RGDDGEIGPR
GLPGESGPRG LLGPKGPPGI PGPPGVRGMD GPQGPKGSLG PQGEPGPPGQ QGTPGTQGLP
GPQGAIGPHG EKGPQGKPGL PGMPGSDGPP GHPGKEGPPG TKGNQGPSGP QGPLGYPGPR
GVKGVDGIRG LKGHKGEKGE DGFPGFKGDI GVKGDRGEVG VPGSRGEDGP EGPKGRTGPT
GDPGPPGLMG EKGKLGVPGL PGYPGRQGPK GSLGFPGFPG ASGEKGARGL SGKSGPRGER
GPTGPRGQRG PRGATGKSGA KGTSGGDGPH GPPGERGLPG PQGPNGFPGP KGPPGPPGKD
GLPGHPGQRG EVGFQGKTGP PGPPGVVGPQ GAAGETGPMG ERGHPGPPGP PGEQGLPGTA
GKEGTKGDPG PPGAPGKDGP AGLRGFPGER GLPGTAGGPG LKGNEGPSGP PGPAGSPGER
GAAGSGGPIG PPGRPGPQGP PGAAGEKGVP GEKGPIGPTG RDGVQGPVGL PGPAGPPGVA
GEDGDKGEVG DPGQKGTKGN KGEHGPPGPP GPIGPVGQPG AAGADGEPGA RGPQGHFGAK
GDEGTRGFNG PPGPIGLQGL PGPSGEKGET GDVGPMGPPG PPGPRGPAGP NGADGPQGPP
GGVGNLGPPG EKGEPGESGS PGIQGEPGVK GPRGERGEKG ESGQPGEPGP PGPKGPTGDD
GPKGNPGPVG FPGDPGPPGE GGPRGQDGAK GDRGEDGEPG QPGSPGPTGE NGPPGPLGKR
GPAGSPGSEG RQGGKGAKGD PGAIGAPGKT GPVGPAGPAG KPGPDGLRGL PGSVGQQGRP
GATGQAGPPG PVGPPGLPGL RGDAGAKGEK GHPGLIGLIG PPGEQGEKGD RGLPGPQGSP
GQKGEMGIPG ASGPIGPGGP PGLPGPAGPK GAKGATGPGG PKGEKGVQGP PGHPGPPGEV
IQPLPIQMPK KTRRSVDGSR LMQEDEAIPT GGAPGSPGGL EEIFGSLDSL REEIEQMRRP
TGTQDSPART CQDLKLCHPE LPDGEYWVDP NQGCARDAFR VFCNFTAGGE TCVTPRDDVT
QFSYVDSEGS PVGVVQLTFL RLLSVSAHQD VSYPCSGAAR DGPLRLRGAN EDELSPETSP
YVKEFRDGCQ TQQGRTVLEV RTPVLEQLPV LDASFSDLGA PPRRGGVLLG PVCFMG*
mutated AA sequence MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
PHRAQRSPQQ QPSRLHRPQN QEPQSQPTES LYYDYEPPYY DVMTTGTTPD YQDPTPGEEE
EILESSLLPP LEEEQTDLQV PPTADRFQAE EYGEGGTDPP EGPYDYTYGY GDDYREETEL
GPALSAETAH SGAAAHGPRG LKGEKGEPAV LEPGMLVEGP PGPEGPAGLI GPPGIQGNPG
PVGDPGERGP PGRAGLPGSD GAPGPPGTSL MLPFRFGSGG GDKGPVVAAQ EAQAQAILQQ
ARLALRGPPG PMGYTGRPGP LGQPGSPGLK GESGDLGPQG PRGPQGLTGP PGKAGRRGRA
GADGARGMPG DPGVKGDRGF DGLPGLPGEK GHRGDTGAQG LPGPPGEDGE RGDDGEIGPR
GLPGESGPRG LLGPKGPPGI PGPPGVRGMD GPQGPKGSLG PQGEPGPPGQ QGTPGTQGLP
GPQGAIGPHG EKGPQGKPGL PGMPGSDGPP GHPGKEGPPG TKGNQGPSGP QGPLGYPGPR
GVKGVDGIRG LKGHKGEKGE DGFPGFKGDI GVKGDRGEVG VPGSRGEDGP EGPKGRTGPT
GDPGPPGLMG EKGKLGVPGL PGYPGRQGPK GSLGFPGFPG ASGEKGARGL SGKSGPRGER
GPTGPRGQRG PRGATGKSGA KGTSGGDGPH GPPGERGLPG PQGPNGFPGP KGPPGPPGKD
GLPGHPGQRG EVGFQGKTGP PGPPGVVGPQ GAAGETGPMG ERGHPGPPGP PGEQGLPGTA
GKEGTKGDPG PPGAPGKDGP AGLRGFPGER GLPGTAGGPG LKGNEGPSGP PGPAGSPGER
GAAGSGGPIG PPGRPGPQGP PGAAGEKGVP GEKGPIGPTG RDGVQGPVGL PGPAGPPGVA
GEDGDKGEVG DPGQKGTKGN KGEHGPPGPP GPIGPVGQPG AAGADGEPGA RGPQGHFGAK
GDEGTRGFNG PPGPIGLQGL PGPSGEKGET GDVGPMGPPG PPGPRGPAGP NGADGPQGPP
GGVGNLGPPG EKGEPGESGS PGIQGEPGVK GPRGERGEKG ESGQPGEPGP PGPKGPTGDD
GPKGNPGPVG FPGDPGPPGE GGPRGQDGAK GDRGEDGEPG QPGSPGPTGE NGPPGPLGKR
GPAGSPGSEG RQGGKGAKGD PGAIGAPGKT GPVGPAGPAG KPGPDGLRGL PGSVGQQGRP
GATGQAGPPG PVGPPGLPGL RGDAGAKGEK GHPGLIGLIG PPGEQGEKGD RGLPGPQGSP
EQKGEMGIPG ASGPIGPGGP PGLPGPAGPK GAKGATGPGG PKGEKGVQGP PGHPGPPGEV
IQPLPIQMPK KTRRSVDGSR LMQEDEAIPT GGAPGSPGGL EEIFGSLDSL REEIEQMRRP
TGTQDSPART CQDLKLCHPE LPDGEYWVDP NQGCARDAFR VFCNFTAGGE TCVTPRDDVT
QFSYVDSEGS PVGVVQLTFL RLLSVSAHQD VSYPCSGAAR DGPLRLRGAN EDELSPETSP
YVKEFRDGCQ TQQGRTVLEV RTPVLEQLPV LDASFSDLGA PPRRGGVLLG PVCFMG*
speed 0.82 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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Problems