Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999986140182 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM993116)
  • known disease mutation: rs17125 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:33142311C>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.2243G>A
cDNA.2471G>A
g.17966G>A
AA changes G748E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 748
frameshift no
known variant Reference ID: rs121912948
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs17125 (pathogenic for Deafness, autosomal dominant 13) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM993116)

known disease mutation at this position, please check HGMD for details (HGMD ID CM993116)
known disease mutation at this position, please check HGMD for details (HGMD ID CM993116)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9870.846
4.7491
(flanking)4.7491
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 increased17957wt: 0.5437 / mu: 0.5827 (marginal change - not scored)wt: TGGTCTGCCTGGCTATCCTGGACGTCAGGGACCCAAGGTGA
mu: TGGTCTGCCTGGCTATCCTGGACGTCAGGAACCCAAGGTGA		 ctgg|ACGT
Acc marginally increased17956wt: 0.8842 / mu: 0.8845 (marginal change - not scored)wt: CTGGTCTGCCTGGCTATCCTGGACGTCAGGGACCCAAGGTG
mu: CTGGTCTGCCTGGCTATCCTGGACGTCAGGAACCCAAGGTG		 cctg|GACG
Donor marginally increased17963wt: 0.7001 / mu: 0.7651 (marginal change - not scored)wt: ACGTCAGGGACCCAA
mu: ACGTCAGGAACCCAA		 GTCA|ggga
Donor increased17968wt: 0.55 / mu: 0.76wt: AGGGACCCAAGGTGA
mu: AGGAACCCAAGGTGA		 GGAC|ccaa
Donor marginally increased17967wt: 0.9546 / mu: 0.9729 (marginal change - not scored)wt: CAGGGACCCAAGGTG
mu: CAGGAACCCAAGGTG		 GGGA|ccca
distance from splice site 8
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      748VPGLPGYPGRQGPKGSLGFPGFPG
mutated  not conserved    748VPGLPGYPGRQEPKGSLGFPGFP
Ptroglodytes  all identical  ENSPTRG00000018033  770VPGLPGYPGRQGPKGSLGFPGFP
Mmulatta  all identical  ENSMMUG00000003850  807VPGLPGYPGRQGPKGSLGFPGFP
Fcatus  all identical  ENSFCAG00000004005  435VPGLPGYPGRQGPKGSLGFPGFP
Mmusculus  all identical  ENSMUSG00000024330  761VPGLPGYPGRQGPKGSLGFPGFP
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000005534  875VPGLPGYPGRQGPKGSLGFPGFP
Drerio  all identical  ENSDARG00000012422  1054PGLPGYPGRQGIKGSLGFPGFP
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000012724  1038VPGLPGYPGRQGAKGSLGFPGFP
protein features
start (aa)end (aa)featuredetails 
4871500REGIONTriple-helical region.lost
805862DOMAINCollagen-like 4.might get lost (downstream of altered splice site)
843846CONFLICTTGPR -> HGST (in Ref. 7; AAA52034).might get lost (downstream of altered splice site)
863899DOMAINCollagen-like 5.might get lost (downstream of altered splice site)
882884CONFLICTQGP -> SGS (in Ref. 7; AAA52034).might get lost (downstream of altered splice site)
10311032CONFLICTPP -> RQ (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034).might get lost (downstream of altered splice site)
10911091CONFLICTD -> V (in Ref. 7; AAA52034).might get lost (downstream of altered splice site)
10991156DOMAINCollagen-like 6.might get lost (downstream of altered splice site)
11241124CONFLICTA -> R (in Ref. 7; AAA52034).might get lost (downstream of altered splice site)
11271133CONFLICTEPGARGP -> GAGGLGT (in Ref. 7; AAA52034).might get lost (downstream of altered splice site)
11571172DOMAINCollagen-like 7.might get lost (downstream of altered splice site)
12531253CONFLICTP -> A (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034).might get lost (downstream of altered splice site)
12571257CONFLICTT -> Q (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034).might get lost (downstream of altered splice site)
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 2243
cDNA position
(for ins/del: last normal base / first normal base)		 2471
gDNA position
(for ins/del: last normal base / first normal base)		 17966
chromosomal position
(for ins/del: last normal base / first normal base)		 33142311
original gDNA sequence snippet TGGCTATCCTGGACGTCAGGGACCCAAGGTGATGCCATGCC
altered gDNA sequence snippet TGGCTATCCTGGACGTCAGGAACCCAAGGTGATGCCATGCC
original cDNA sequence snippet TGGCTATCCTGGACGTCAGGGACCCAAGGGGTCCCTAGGAT
altered cDNA sequence snippet TGGCTATCCTGGACGTCAGGAACCCAAGGGGTCCCTAGGAT
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 PGYPGRQEPK 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 0.47 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