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 7.146338 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
COL11A2disease_causing_automatic0.999999855393217simple_aae0G661Rsingle base exchangers121912945show file
COL11A2disease_causing_automatic0.999999855393217simple_aae0G640Rsingle base exchangers121912945show file
COL11A2disease_causing_automatic0.999999855393217simple_aae0G635Rsingle base exchangers121912945show file
COL11A2disease_causing_automatic0.999999855393217simple_aae0G614Rsingle base exchangers121912945show file
COL11A2disease_causing_automatic0.999999855393217simple_aae0G601Rsingle base exchangers121912945show file
COL11A2disease_causing_automatic0.999999912918864simple_aae0G575Rsingle base exchangers121912945show file
COL11A2disease_causing_automatic0.999999912918864simple_aae0G580Rsingle base exchangers121912945show file
COL11A2disease_causing_automatic0.999999912918864simple_aae0G554Rsingle base exchangers121912945show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999855393217 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950285)
  • known disease mutation: rs17121 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:33144993C>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.1981G>A
cDNA.2209G>A
g.15284G>A
AA changes G661R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 661
frameshift no
known variant Reference ID: rs121912945
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs17121 (pathogenic for Otospondylomegaepiphyseal dysplasia, autosomal recessive) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950285)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950285)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950285)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.951
4.4810.998
(flanking)-2.3250.276
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 increased15284wt: 0.7922 / mu: 0.8101 (marginal change - not scored)wt: CCTGTATGTAGGGTCTTCCCGGGCCCCAGGGTGCCATCGGC
mu: CCTGTATGTAGGGTCTTCCCAGGCCCCAGGGTGCCATCGGC		 cccg|GGCC
Acc marginally increased15275wt: 0.3901 / mu: 0.4450 (marginal change - not scored)wt: TTCTCTTTCCCTGTATGTAGGGTCTTCCCGGGCCCCAGGGT
mu: TTCTCTTTCCCTGTATGTAGGGTCTTCCCAGGCCCCAGGGT		 tagg|GTCT
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      661QQGTPGTQGLPGPQGAIGPHGEKG
mutated  not conserved    661RPQGAIGPHGEK
Ptroglodytes  all identical  ENSPTRG00000018033  623GPQGAIGPHGEK
Mmulatta  all identical  ENSMMUG00000003850  660GPQGAIGPHGEK
Fcatus  all identical  ENSFCAG00000004005  288QQGTPGTQGLPGPQGAIGPHGEK
Mmusculus  all identical  ENSMUSG00000024330  614GPQGAIGPHGEK
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000005534  728QQGTPGTQGMPGPQGHTGPPGEK
Drerio  all identical  ENSDARG00000012422  907QQGAPGTQGMPGPQGA
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000012724  891QQGTPGTQGLSGPQGPVGPPGEK
protein features
start (aa)end (aa)featuredetails 
4871500REGIONTriple-helical region.lost
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 1981
cDNA position
(for ins/del: last normal base / first normal base)		 2209
gDNA position
(for ins/del: last normal base / first normal base)		 15284
chromosomal position
(for ins/del: last normal base / first normal base)		 33144993
original gDNA sequence snippet CCTGTATGTAGGGTCTTCCCGGGCCCCAGGGTGCCATCGGC
altered gDNA sequence snippet CCTGTATGTAGGGTCTTCCCAGGCCCCAGGGTGCCATCGGC
original cDNA sequence snippet CTGGGACCCAGGGTCTTCCCGGGCCCCAGGGTGCCATCGGC
altered cDNA sequence snippet CTGGGACCCAGGGTCTTCCCAGGCCCCAGGGTGCCATCGGC
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
RPQGAIGPHG 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*
speed 1.27 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: 0.999999855393217 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950285)
  • known disease mutation: rs17121 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:33144993C>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.1918G>A
cDNA.2146G>A
g.15284G>A
AA changes G640R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 640
frameshift no
known variant Reference ID: rs121912945
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs17121 (pathogenic for Otospondylomegaepiphyseal dysplasia, autosomal recessive) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950285)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950285)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950285)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.951
4.4810.998
(flanking)-2.3250.276
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 increased15284wt: 0.7922 / mu: 0.8101 (marginal change - not scored)wt: CCTGTATGTAGGGTCTTCCCGGGCCCCAGGGTGCCATCGGC
mu: CCTGTATGTAGGGTCTTCCCAGGCCCCAGGGTGCCATCGGC		 cccg|GGCC
Acc marginally increased15275wt: 0.3901 / mu: 0.4450 (marginal change - not scored)wt: TTCTCTTTCCCTGTATGTAGGGTCTTCCCGGGCCCCAGGGT
mu: TTCTCTTTCCCTGTATGTAGGGTCTTCCCAGGCCCCAGGGT		 tagg|GTCT
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      640QQGTPGTQGLPGPQGAIGPHGEKG
mutated  not conserved    640QQGTPGTQGLPRPQGAIGPHGEK
Ptroglodytes  all identical  ENSPTRG00000018033  623GPQGAIGPHGEK
Mmulatta  all identical  ENSMMUG00000003850  660GPQGAIGPHGEK
Fcatus  all identical  ENSFCAG00000004005  288QQGTPGTQGLPGPQGAIGPHGEK
Mmusculus  all identical  ENSMUSG00000024330  614QQGTPGAQGLPGPQGAIGPHGEK
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000005534  728TPGTQGMPGPQGHTGPPGEK
Drerio  all identical  ENSDARG00000012422  907QQGAPGTQGMPGPQGA
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000012724  891QQGTPGTQGLSGPQGPVGPPGEK
protein features
start (aa)end (aa)featuredetails 
4871500REGIONTriple-helical region.lost
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 1918
cDNA position
(for ins/del: last normal base / first normal base)		 2146
gDNA position
(for ins/del: last normal base / first normal base)		 15284
chromosomal position
(for ins/del: last normal base / first normal base)		 33144993
original gDNA sequence snippet CCTGTATGTAGGGTCTTCCCGGGCCCCAGGGTGCCATCGGC
altered gDNA sequence snippet CCTGTATGTAGGGTCTTCCCAGGCCCCAGGGTGCCATCGGC
original cDNA sequence snippet CTGGGACCCAGGGTCTTCCCGGGCCCCAGGGTGCCATCGGC
altered cDNA sequence snippet CTGGGACCCAGGGTCTTCCCAGGCCCCAGGGTGCCATCGGC
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 GTPGTQGLPR 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*
speed 0.69 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: 0.999999855393217 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950285)
  • known disease mutation: rs17121 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:33144993C>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.1903G>A
cDNA.2131G>A
g.15284G>A
AA changes G635R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 635
frameshift no
known variant Reference ID: rs121912945
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs17121 (pathogenic for Otospondylomegaepiphyseal dysplasia, autosomal recessive) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950285)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950285)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950285)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.951
4.4810.998
(flanking)-2.3250.276
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 increased15284wt: 0.7922 / mu: 0.8101 (marginal change - not scored)wt: CCTGTATGTAGGGTCTTCCCGGGCCCCAGGGTGCCATCGGC
mu: CCTGTATGTAGGGTCTTCCCAGGCCCCAGGGTGCCATCGGC		 cccg|GGCC
Acc marginally increased15275wt: 0.3901 / mu: 0.4450 (marginal change - not scored)wt: TTCTCTTTCCCTGTATGTAGGGTCTTCCCGGGCCCCAGGGT
mu: TTCTCTTTCCCTGTATGTAGGGTCTTCCCAGGCCCCAGGGT		 tagg|GTCT
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      635QQGTPGTQGLPGPQGAIGPHGEKG
mutated  not conserved    635QQGTPGTQGLPRPQGAIGPHGEK
Ptroglodytes  all identical  ENSPTRG00000018033  623GPQGAIGPHGEK
Mmulatta  all identical  ENSMMUG00000003850  660GPQGAIGPHGEK
Fcatus  all identical  ENSFCAG00000004005  288QQGTPGTQGLPGPQGAIGPHGEK
Mmusculus  all identical  ENSMUSG00000024330  614QQGTPGAQGLPGPQGAIGPHGEK
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000005534  728QQGTPGTQGMPGPQGHTGPP
Drerio  all identical  ENSDARG00000012422  907QGMPGPQGATGPPGEK
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000012724  891QQGTPGTQGLSGPQGPVGPPGEK
protein features
start (aa)end (aa)featuredetails 
4871500REGIONTriple-helical region.lost
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 1903
cDNA position
(for ins/del: last normal base / first normal base)		 2131
gDNA position
(for ins/del: last normal base / first normal base)		 15284
chromosomal position
(for ins/del: last normal base / first normal base)		 33144993
original gDNA sequence snippet CCTGTATGTAGGGTCTTCCCGGGCCCCAGGGTGCCATCGGC
altered gDNA sequence snippet CCTGTATGTAGGGTCTTCCCAGGCCCCAGGGTGCCATCGGC
original cDNA sequence snippet CTGGGACCCAGGGTCTTCCCGGGCCCCAGGGTGCCATCGGC
altered cDNA sequence snippet CTGGGACCCAGGGTCTTCCCAGGCCCCAGGGTGCCATCGGC
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 QGLPRPQGAI 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 *
speed 0.72 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: 0.999999855393217 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950285)
  • known disease mutation: rs17121 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:33144993C>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.1840G>A
cDNA.2068G>A
g.15284G>A
AA changes G614R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 614
frameshift no
known variant Reference ID: rs121912945
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs17121 (pathogenic for Otospondylomegaepiphyseal dysplasia, autosomal recessive) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950285)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950285)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950285)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.951
4.4810.998
(flanking)-2.3250.276
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 increased15284wt: 0.7922 / mu: 0.8101 (marginal change - not scored)wt: CCTGTATGTAGGGTCTTCCCGGGCCCCAGGGTGCCATCGGC
mu: CCTGTATGTAGGGTCTTCCCAGGCCCCAGGGTGCCATCGGC		 cccg|GGCC
Acc marginally increased15275wt: 0.3901 / mu: 0.4450 (marginal change - not scored)wt: TTCTCTTTCCCTGTATGTAGGGTCTTCCCGGGCCCCAGGGT
mu: TTCTCTTTCCCTGTATGTAGGGTCTTCCCAGGCCCCAGGGT		 tagg|GTCT
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      614QQGTPGTQGLPGPQGAIGPHGEKG
mutated  not conserved    614QQGTPGTQGLPRPQGAIGPHGEK
Ptroglodytes  all identical  ENSPTRG00000018033  623GPQGAIGPHGEK
Mmulatta  all identical  ENSMMUG00000003850  660GPQGAIGPHGEK
Fcatus  all identical  ENSFCAG00000004005  288QQGTPGTQGLPGPQGAIGPHGEK
Mmusculus  all identical  ENSMUSG00000024330  614QQGTPGAQGLPGPQGAIGPHGEK
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000005534  728QQGTPGTQGMPGPQGHTG
Drerio  all identical  ENSDARG00000012422  907GTQGMPGPQGATGPPGEK
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000012724  891QQGTPGTQGLSGPQGPVGPPGEK
protein features
start (aa)end (aa)featuredetails 
4871500REGIONTriple-helical region.lost
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 1840
cDNA position
(for ins/del: last normal base / first normal base)		 2068
gDNA position
(for ins/del: last normal base / first normal base)		 15284
chromosomal position
(for ins/del: last normal base / first normal base)		 33144993
original gDNA sequence snippet CCTGTATGTAGGGTCTTCCCGGGCCCCAGGGTGCCATCGGC
altered gDNA sequence snippet CCTGTATGTAGGGTCTTCCCAGGCCCCAGGGTGCCATCGGC
original cDNA sequence snippet CTGGGACCCAGGGTCTTCCCGGGCCCCAGGGTGCCATCGGC
altered cDNA sequence snippet CTGGGACCCAGGGTCTTCCCAGGCCCCAGGGTGCCATCGGC
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 GLPRPQGAIG 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*
speed 1.16 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: 0.999999855393217 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950285)
  • known disease mutation: rs17121 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:33144993C>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.1801G>A
cDNA.2029G>A
g.15284G>A
AA changes G601R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 601
frameshift no
known variant Reference ID: rs121912945
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs17121 (pathogenic for Otospondylomegaepiphyseal dysplasia, autosomal recessive) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950285)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950285)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950285)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.951
4.4810.998
(flanking)-2.3250.276
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 increased15284wt: 0.7922 / mu: 0.8101 (marginal change - not scored)wt: CCTGTATGTAGGGTCTTCCCGGGCCCCAGGGTGCCATCGGC
mu: CCTGTATGTAGGGTCTTCCCAGGCCCCAGGGTGCCATCGGC		 cccg|GGCC
Acc marginally increased15275wt: 0.3901 / mu: 0.4450 (marginal change - not scored)wt: TTCTCTTTCCCTGTATGTAGGGTCTTCCCGGGCCCCAGGGT
mu: TTCTCTTTCCCTGTATGTAGGGTCTTCCCAGGCCCCAGGGT		 tagg|GTCT
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      601QQGTPGTQGLPGPQGAIGPHGEKG
mutated  not conserved    601RPQGAIGPHGEK
Ptroglodytes  all identical  ENSPTRG00000018033  623GPQGAIGPHGEK
Mmulatta  all identical  ENSMMUG00000003850  660GPQGAIGPHGEK
Fcatus  all identical  ENSFCAG00000004005  288QQGTPGTQGLPGPQGAIGPHGEK
Mmusculus  all identical  ENSMUSG00000024330  614QQGTPGAQGLPGPQGAIGPHGEK
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000005534  728QQGTPGTQGMPGPQGHTGPPGEK
Drerio  all identical  ENSDARG00000012422  907QQGAPGTQGMPGPQGATGPPGEK
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000012724  891QQGTPGTQGLSGPQGPVGPPG
protein features
start (aa)end (aa)featuredetails 
4871500REGIONTriple-helical region.lost
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 1801
cDNA position
(for ins/del: last normal base / first normal base)		 2029
gDNA position
(for ins/del: last normal base / first normal base)		 15284
chromosomal position
(for ins/del: last normal base / first normal base)		 33144993
original gDNA sequence snippet CCTGTATGTAGGGTCTTCCCGGGCCCCAGGGTGCCATCGGC
altered gDNA sequence snippet CCTGTATGTAGGGTCTTCCCAGGCCCCAGGGTGCCATCGGC
original cDNA sequence snippet CTGGGACCCAGGGTCTTCCCGGGCCCCAGGGTGCCATCGGC
altered cDNA sequence snippet CTGGGACCCAGGGTCTTCCCAGGCCCCAGGGTGCCATCGGC
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
RPQGAIGPHG 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*
speed 1.01 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: 0.999999912918864 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950285)
  • known disease mutation: rs17121 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:33144993C>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.1723G>A
cDNA.1982G>A
g.15284G>A
AA changes G575R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 575
frameshift no
known variant Reference ID: rs121912945
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs17121 (pathogenic for Otospondylomegaepiphyseal dysplasia, autosomal recessive) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950285)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950285)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950285)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.951
4.4810.998
(flanking)-2.3250.276
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 increased15284wt: 0.7922 / mu: 0.8101 (marginal change - not scored)wt: CCTGTATGTAGGGTCTTCCCGGGCCCCAGGGTGCCATCGGC
mu: CCTGTATGTAGGGTCTTCCCAGGCCCCAGGGTGCCATCGGC		 cccg|GGCC
Acc marginally increased15275wt: 0.3901 / mu: 0.4450 (marginal change - not scored)wt: TTCTCTTTCCCTGTATGTAGGGTCTTCCCGGGCCCCAGGGT
mu: TTCTCTTTCCCTGTATGTAGGGTCTTCCCAGGCCCCAGGGT		 tagg|GTCT
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      575QQGTPGTQGLPGPQGAIGPHGEKG
mutated  not conserved    575QQGTPGTQGLPRPQGAIGPHGEK
Ptroglodytes  all identical  ENSPTRG00000018033  623GPQGAIGPHGEK
Mmulatta  all identical  ENSMMUG00000003850  660GPQGAIGPHGEK
Fcatus  all identical  ENSFCAG00000004005  288QQGTPGTQGLPGPQGAIGPHGEK
Mmusculus  all identical  ENSMUSG00000024330  614QQGTPGAQGLPGPQGAIGPHGEK
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000005534  728QGMPGPQGHTGPPGEK
Drerio  all identical  ENSDARG00000012422  907PGPQGATGPPGEK
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000012724  891QQGTPGTQGLSGPQGPVGPPGEK
protein features
start (aa)end (aa)featuredetails 
4871500REGIONTriple-helical region.lost
546590DOMAINCollagen-like 3.lost
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 1723
cDNA position
(for ins/del: last normal base / first normal base)		 1982
gDNA position
(for ins/del: last normal base / first normal base)		 15284
chromosomal position
(for ins/del: last normal base / first normal base)		 33144993
original gDNA sequence snippet CCTGTATGTAGGGTCTTCCCGGGCCCCAGGGTGCCATCGGC
altered gDNA sequence snippet CCTGTATGTAGGGTCTTCCCAGGCCCCAGGGTGCCATCGGC
original cDNA sequence snippet CTGGGACCCAGGGTCTTCCCGGGCCCCAGGGTGCCATCGGC
altered cDNA sequence snippet CTGGGACCCAGGGTCTTCCCAGGCCCCAGGGTGCCATCGGC
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 QGLPRPQGAI 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 *
speed 1.24 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: 0.999999912918864 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950285)
  • known disease mutation: rs17121 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:33144993C>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.1738G>A
cDNA.1966G>A
g.15284G>A
AA changes G580R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 580
frameshift no
known variant Reference ID: rs121912945
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs17121 (pathogenic for Otospondylomegaepiphyseal dysplasia, autosomal recessive) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950285)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950285)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950285)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.951
4.4810.998
(flanking)-2.3250.276
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 increased15284wt: 0.7922 / mu: 0.8101 (marginal change - not scored)wt: CCTGTATGTAGGGTCTTCCCGGGCCCCAGGGTGCCATCGGC
mu: CCTGTATGTAGGGTCTTCCCAGGCCCCAGGGTGCCATCGGC		 cccg|GGCC
Acc marginally increased15275wt: 0.3901 / mu: 0.4450 (marginal change - not scored)wt: TTCTCTTTCCCTGTATGTAGGGTCTTCCCGGGCCCCAGGGT
mu: TTCTCTTTCCCTGTATGTAGGGTCTTCCCAGGCCCCAGGGT		 tagg|GTCT
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      580QQGTPGTQGLPGPQGAIGPHGEKG
mutated  not conserved    580QQGTPGTQGLPRPQGAIGPHGEK
Ptroglodytes  all identical  ENSPTRG00000018033  623PGTQGLPGPQGAIGPHGEK
Mmulatta  all identical  ENSMMUG00000003850  660TQGLPGPQGAIGPHGEK
Fcatus  all identical  ENSFCAG00000004005  288QQGTPGTQGLPGPQGAIGPHGEK
Mmusculus  all identical  ENSMUSG00000024330  614QQGTPGAQGLPGPQGAIGPHGEK
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000005534  728QQGTPGTQGMPGPQGHTGPPGEK
Drerio  all identical  ENSDARG00000012422  907QQGAPGTQGMPGPQGATGPPGEK
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000012724  891QQGTPGTQGLSGPQGPVGPPGEK
protein features
start (aa)end (aa)featuredetails 
4871500REGIONTriple-helical region.lost
546590DOMAINCollagen-like 3.lost
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 1738
cDNA position
(for ins/del: last normal base / first normal base)		 1966
gDNA position
(for ins/del: last normal base / first normal base)		 15284
chromosomal position
(for ins/del: last normal base / first normal base)		 33144993
original gDNA sequence snippet CCTGTATGTAGGGTCTTCCCGGGCCCCAGGGTGCCATCGGC
altered gDNA sequence snippet CCTGTATGTAGGGTCTTCCCAGGCCCCAGGGTGCCATCGGC
original cDNA sequence snippet CTGGGACCCAGGGTCTTCCCGGGCCCCAGGGTGCCATCGGC
altered cDNA sequence snippet CTGGGACCCAGGGTCTTCCCAGGCCCCAGGGTGCCATCGGC
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 GTPGTQGLPR 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*
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
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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999912918864 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950285)
  • known disease mutation: rs17121 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:33144993C>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.1660G>A
cDNA.1888G>A
g.15284G>A
AA changes G554R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 554
frameshift no
known variant Reference ID: rs121912945
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs17121 (pathogenic for Otospondylomegaepiphyseal dysplasia, autosomal recessive) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950285)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950285)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950285)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.951
4.4810.998
(flanking)-2.3250.276
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 increased15284wt: 0.7922 / mu: 0.8101 (marginal change - not scored)wt: CCTGTATGTAGGGTCTTCCCGGGCCCCAGGGTGCCATCGGC
mu: CCTGTATGTAGGGTCTTCCCAGGCCCCAGGGTGCCATCGGC		 cccg|GGCC
Acc marginally increased15275wt: 0.3901 / mu: 0.4450 (marginal change - not scored)wt: TTCTCTTTCCCTGTATGTAGGGTCTTCCCGGGCCCCAGGGT
mu: TTCTCTTTCCCTGTATGTAGGGTCTTCCCAGGCCCCAGGGT		 tagg|GTCT
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      554QQGTPGTQGLPGPQGAIGPHGEKG
mutated  not conserved    554QQGTPGTQGLPRPQGAIGPHGEK
Ptroglodytes  all identical  ENSPTRG00000018033  623QQGTPGTQGLPGPQGAIGPHGEK
Mmulatta  all identical  ENSMMUG00000003850  660GPQGAIGPHGEK
Fcatus  all identical  ENSFCAG00000004005  288QQGTPGTQGLPGPQGAIGPHGEK
Mmusculus  all identical  ENSMUSG00000024330  614QQGTPGAQGLPGPQGAIGPHGEK
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000005534  728QQGTPGTQGMPGPQGHTGPPGEK
Drerio  all identical  ENSDARG00000012422  907QQGAPGTQGMPGPQGATGPPGEK
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000012724  891QQGTPGTQGLSGPQGPVGPPGEK
protein features
start (aa)end (aa)featuredetails 
4871500REGIONTriple-helical region.lost
546590DOMAINCollagen-like 3.lost
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 1660
cDNA position
(for ins/del: last normal base / first normal base)		 1888
gDNA position
(for ins/del: last normal base / first normal base)		 15284
chromosomal position
(for ins/del: last normal base / first normal base)		 33144993
original gDNA sequence snippet CCTGTATGTAGGGTCTTCCCGGGCCCCAGGGTGCCATCGGC
altered gDNA sequence snippet CCTGTATGTAGGGTCTTCCCAGGCCCCAGGGTGCCATCGGC
original cDNA sequence snippet CTGGGACCCAGGGTCTTCCCGGGCCCCAGGGTGCCATCGGC
altered cDNA sequence snippet CTGGGACCCAGGGTCTTCCCAGGCCCCAGGGTGCCATCGGC
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 GLPRPQGAIG 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*
speed 0.98 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