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 7.91267 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
COL11A2disease_causing_automatic0.999999986140182simple_aaeaffected0G722Esingle base exchangers121912948show file
COL11A2disease_causing_automatic0.999999986140182simple_aaeaffected0G787Esingle base exchangers121912948show file
COL11A2disease_causing_automatic0.999999986140182simple_aaeaffected0G782Esingle base exchangers121912948show file
COL11A2disease_causing_automatic0.999999986140182simple_aaeaffected0G761Esingle base exchangers121912948show file
COL11A2disease_causing_automatic0.999999986140182simple_aaeaffected0G748Esingle base exchangers121912948show file
COL11A2disease_causing_automatic0.999999986140182simple_aaeaffected0G727Esingle base exchangers121912948show file
COL11A2disease_causing_automatic0.999999986140182simple_aaeaffected0G701Esingle base exchangers121912948show file
COL11A2disease_causing_automatic0.999999991653721simple_aaeaffected0G808Esingle base exchangers121912948show file

Taster files

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 ENST00000374708
Genbank transcript ID NM_080681
UniProt peptide P13942
alteration type single base exchange
alteration region CDS
DNA changes c.2165G>A
cDNA.2424G>A
g.17966G>A
AA changes G722E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 722
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      722VPGLPGYPGRQGPKGSLGFPGFPG
mutated  not conserved    722QEPKGSLGFPGFP
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  1054VPGLPGYPGRQGIKGSLGFPGFP
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000012724  1038VPGLPGYPGRQGAKGSLGFPGFP
protein features
start (aa)end (aa)featuredetails 
4871500REGIONTriple-helical region.lost
726726CONFLICTD -> N (in Ref. 6; AAA35498).might get lost (downstream of altered splice site)
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 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 2165
cDNA position
(for ins/del: last normal base / first normal base)		 2424
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 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
QEPKGSLGFP 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 1.31 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: 0.999999986140182 (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 ENST00000357486
Genbank transcript ID N/A
UniProt peptide P13942
alteration type single base exchange
alteration region CDS
DNA changes c.2360G>A
cDNA.2588G>A
g.17966G>A
AA changes G787E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 787
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      787VPGLPGYPGRQGPKGSLGFPGFPG
mutated  not conserved    787GYPGRQEPKGSLGFPGFP
Ptroglodytes  all identical  ENSPTRG00000018033  770VPGLPGYPGRQGPKGSLGFPGFP
Mmulatta  all identical  ENSMMUG00000003850  807VPGLPGYPGRQGPKGSLGFPGFP
Fcatus  all identical  ENSFCAG00000004005  435VPGLPGYPGRQGPKGSLGFPGFP
Mmusculus  all identical  ENSMUSG00000024330  761GYPGRQGPKGSLGFPGFP
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000005534  875VPGLPGYPGRQGPKGSLGFPGFP
Drerio  all identical  ENSDARG00000012422  1054VPGLPGYPGRQGIKGSLGFPGFP
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 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 2360
cDNA position
(for ins/del: last normal base / first normal base)		 2588
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 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
GYPGRQEPKG 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 1.21 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: 0.999999986140182 (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 ENST00000374714
Genbank transcript ID N/A
UniProt peptide P13942
alteration type single base exchange
alteration region CDS
DNA changes c.2345G>A
cDNA.2573G>A
g.17966G>A
AA changes G782E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 782
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      782VPGLPGYPGRQGPKGSLGFPGFPG
mutated  not conserved    782QEPKGSLGFPGFP
Ptroglodytes  all identical  ENSPTRG00000018033  770VPGLPGYPGRQGPKGSLGFPGFP
Mmulatta  all identical  ENSMMUG00000003850  807VPGLPGYPGRQGPKGSLGFPGFP
Fcatus  all identical  ENSFCAG00000004005  435VPGLPGYPGRQGPKGSLGFPGFP
Mmusculus  all identical  ENSMUSG00000024330  761QGPKGSLGFPGFP
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000005534  875VPGLPGYPGRQGPKGSLGFPGFP
Drerio  all identical  ENSDARG00000012422  1054VPGLPGYPGRQGIKGSLGFPGFP
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 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 2345
cDNA position
(for ins/del: last normal base / first normal base)		 2573
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 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
QEPKGSLGFP 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 1.39 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: 0.999999986140182 (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 ENST00000374713
Genbank transcript ID N/A
UniProt peptide P13942
alteration type single base exchange
alteration region CDS
DNA changes c.2282G>A
cDNA.2510G>A
g.17966G>A
AA changes G761E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 761
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      761VPGLPGYPGRQGPKGSLGFPGFPG
mutated  not conserved    761VPGLPGYPGRQEPKGSLGFPGFP
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  1054VPGLPGYPGRQGIKGSLGFPGFP
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 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 2282
cDNA position
(for ins/del: last normal base / first normal base)		 2510
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 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 EPKGSLGFPG 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 1.52 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: 0.999999986140182 (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 1.12 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: 0.999999986140182 (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 ENST00000374712
Genbank transcript ID N/A
UniProt peptide P13942
alteration type single base exchange
alteration region CDS
DNA changes c.2180G>A
cDNA.2408G>A
g.17966G>A
AA changes G727E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 727
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      727VPGLPGYPGRQGPKGSLGFPGFPG
mutated  not conserved    727GYPGRQEPKGSLGFPGFP
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  1054VPGLPGYPGRQGIKGSLGFPGFP
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 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 2180
cDNA position
(for ins/del: last normal base / first normal base)		 2408
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 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
GYPGRQEPKG 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 0.85 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: 0.999999986140182 (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 ENST00000361917
Genbank transcript ID NM_080679
UniProt peptide P13942
alteration type single base exchange
alteration region CDS
DNA changes c.2102G>A
cDNA.2330G>A
g.17966G>A
AA changes G701E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 701
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      701VPGLPGYPGRQGPKGSLGFPGFPG
mutated  not conserved    701VPGLPGYPGRQEPKGSLGFPGFP
Ptroglodytes  all identical  ENSPTRG00000018033  770VPGLPGYPGRQGPKGSL
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  1054GLPGYPGRQGIKGSLGFPGFP
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000012724  1038VPGLPGYPGRQGAKGSLGFPGF
protein features
start (aa)end (aa)featuredetails 
4871500REGIONTriple-helical region.lost
704705CONFLICTNQ -> KP (in Ref. 6; AAA35498).might get lost (downstream of altered splice site)
720720CONFLICTR -> Q (in Ref. 6; AAA35498).might get lost (downstream of altered splice site)
726726CONFLICTD -> N (in Ref. 6; AAA35498).might get lost (downstream of altered splice site)
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 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 2102
cDNA position
(for ins/del: last normal base / first normal base)		 2330
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 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 EPKGSLGFPG 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 0.87 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: 0.999999991653721 (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 ENST00000341947
Genbank transcript ID NM_080680
UniProt peptide P13942
alteration type single base exchange
alteration region CDS
DNA changes c.2423G>A
cDNA.2651G>A
g.17966G>A
AA changes G808E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 808
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      808VPGLPGYPGRQGPKGSLGFPGFPG
mutated  not conserved    808VPGLPGYPGRQEPKGSLGFPGFP
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  1054VPGLPGYPGRQGIKGSLGFPGFP
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.lost
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 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 2423
cDNA position
(for ins/del: last normal base / first normal base)		 2651
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 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 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 1.34 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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