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 10 transcript(s)...
Querying Taster for transcript #1: ENST00000315456
Querying Taster for transcript #2: ENST00000554864
Querying Taster for transcript #3: ENST00000399121
Querying Taster for transcript #4: ENST00000348997
Querying Taster for transcript #5: ENST00000399113
Querying Taster for transcript #6: ENST00000283365
Querying Taster for transcript #7: ENST00000269190
Querying Taster for transcript #8: ENST00000444659
Querying Taster for transcript #9: ENST00000269191
Querying Taster for transcript #10: ENST00000399097
MT speed 0 s - this script 5.782574 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
DTNAdisease_causing_automatic1simple_aaeaffected0P121Lsingle base exchangers104894654show file
DTNAdisease_causing_automatic1simple_aaeaffected0P121Lsingle base exchangers104894654show file
DTNAdisease_causing_automatic1simple_aaeaffected0P121Lsingle base exchangers104894654show file
DTNAdisease_causing_automatic1simple_aaeaffected0P121Lsingle base exchangers104894654show file
DTNAdisease_causing_automatic1simple_aaeaffected0P121Lsingle base exchangers104894654show file
DTNAdisease_causing_automatic1simple_aaeaffected0P121Lsingle base exchangers104894654show file
DTNAdisease_causing_automatic1without_aaeaffected0single base exchangers104894654show file
DTNAdisease_causing_automatic1simple_aaeaffected0P121Lsingle base exchangers104894654show file
DTNAdisease_causing_automatic1simple_aaeaffected0P121Lsingle base exchangers104894654show file
DTNAdisease_causing_automatic1simple_aaeaffected0P121Lsingle base exchangers104894654show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM013914)
  • known disease mutation: rs8306 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:32374214C>TN/A show variant in all transcripts   IGV
HGNC symbol DTNA
Ensembl transcript ID ENST00000315456
Genbank transcript ID NM_001392
UniProt peptide Q9Y4J8
alteration type single base exchange
alteration region CDS
DNA changes c.362C>T
cDNA.686C>T
g.300961C>T
AA changes P121L Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 121
frameshift no
known variant Reference ID: rs104894654
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs8306 (pathogenic for Left ventricular noncompaction 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)

known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)
known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H2AZ, Histone, Histone 2A variant Z
phyloP / phastCons
PhyloPPhastCons
(flanking)2.5641
1.9931
(flanking)5.7741
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost300960sequence motif lost- wt: ATCC|gtaa
 mu: ATCT.gtaa
Acc increased300951wt: 0.42 / mu: 0.47wt: TCCTTAACTTCCTGCTTGCAGCGTTTGATCCGTAAGCACCC
mu: TCCTTAACTTCCTGCTTGCAGCGTTTGATCTGTAAGCACCC		 gcag|CGTT
Acc marginally increased300952wt: 0.4615 / mu: 0.4882 (marginal change - not scored)wt: CCTTAACTTCCTGCTTGCAGCGTTTGATCCGTAAGCACCCT
mu: CCTTAACTTCCTGCTTGCAGCGTTTGATCTGTAAGCACCCT		 cagc|GTTT
Donor decreased300960wt: 0.72 / mu: 0.23wt: TTGATCCGTAAGCAC
mu: TTGATCTGTAAGCAC		 GATC|cgta
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      121LLLNFLLAAFDPEGHGKISVFAVK
mutated  not conserved    121LEGHGKISVFAV
Ptroglodytes  all identical  ENSPTRG00000009964  121PEGHGKISVFAV
Mmulatta  all identical  ENSMMUG00000003302  121PEGHGKISVFAV
Fcatus  all identical  ENSFCAG00000011492  121P
Mmusculus  all identical  ENSMUSG00000024302  121PEGHGKISVFAV
Ggallus  all identical  ENSGALG00000015211  121PEGHGKISVFAV
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000031015  121QEGVGKISAFVM
Dmelanogaster  not conserved  FBgn0033739  112LLLNWLLAAYTSDNSGKIRVFSI
Celegans  not conserved  F47G6.1  142LLLAFLLGAYDKQNTGRLTVFSI
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1288REGIONInteraction with MAGEE1 (By similarity).lost
182182CONFLICTF -> L (in Ref. 1; AAC50426 and 2; AAB58541/AAB58542/AAB58543).might get lost (downstream of altered splice site)
237284ZN_FINGZZ-type.might get lost (downstream of altered splice site)
244246STRANDmight get lost (downstream of altered splice site)
255260STRANDmight get lost (downstream of altered splice site)
268273HELIXmight get lost (downstream of altered splice site)
278280STRANDmight get lost (downstream of altered splice site)
286289STRANDmight get lost (downstream of altered splice site)
314314CONFLICTE -> K (in Ref. 1; AAC50430).might get lost (downstream of altered splice site)
400450REGIONSyntrophin-binding region.might get lost (downstream of altered splice site)
461556COILEDPotential.might get lost (downstream of altered splice site)
558559CONFLICTAG -> GV (in Ref. 1; AAC50431).might get lost (downstream of altered splice site)
558561CONFLICTAGSP -> SGTH (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
565565CONFLICTP -> R (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
568568CONFLICTT -> S (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
662662MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
689689CONFLICTT -> S (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1125 / 1125
position (AA) of stopcodon in wt / mu AA sequence 375 / 375
position of stopcodon in wt / mu cDNA 1449 / 1449
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 325 / 325
chromosome 18
strand 1
last intron/exon boundary 1419
theoretical NMD boundary in CDS 1044
length of CDS 1125
coding sequence (CDS) position 362
cDNA position
(for ins/del: last normal base / first normal base)		 686
gDNA position
(for ins/del: last normal base / first normal base)		 300961
chromosomal position
(for ins/del: last normal base / first normal base)		 32374214
original gDNA sequence snippet CCTGCTTGCAGCGTTTGATCCGTAAGCACCCTCTGAATGTC
altered gDNA sequence snippet CCTGCTTGCAGCGTTTGATCTGTAAGCACCCTCTGAATGTC
original cDNA sequence snippet CCTGCTTGCAGCGTTTGATCCGGAAGGCCATGGTAAAATTT
altered cDNA sequence snippet CCTGCTTGCAGCGTTTGATCTGGAAGGCCATGGTAAAATTT
wildtype AA sequence MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE
ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD
PEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA
VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP
VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT
NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVDTWPPR PVTSMNDTLF SHSVPSSGSP
FITRSSDGAF GGCV*
mutated AA sequence MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE
ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD
LEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA
VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP
VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT
NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVDTWPPR PVTSMNDTLF SHSVPSSGSP
FITRSSDGAF GGCV*
speed 0.79 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: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM013914)
  • known disease mutation: rs8306 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:32374214C>TN/A show variant in all transcripts   IGV
HGNC symbol DTNA
Ensembl transcript ID ENST00000554864
Genbank transcript ID NM_001128175
UniProt peptide Q9Y4J8
alteration type single base exchange
alteration region CDS
DNA changes c.362C>T
cDNA.669C>T
g.300961C>T
AA changes P121L Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 121
frameshift no
known variant Reference ID: rs104894654
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs8306 (pathogenic for Left ventricular noncompaction 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)

known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)
known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H2AZ, Histone, Histone 2A variant Z
phyloP / phastCons
PhyloPPhastCons
(flanking)2.5641
1.9931
(flanking)5.7741
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost300960sequence motif lost- wt: ATCC|gtaa
 mu: ATCT.gtaa
Acc increased300951wt: 0.42 / mu: 0.47wt: TCCTTAACTTCCTGCTTGCAGCGTTTGATCCGTAAGCACCC
mu: TCCTTAACTTCCTGCTTGCAGCGTTTGATCTGTAAGCACCC		 gcag|CGTT
Acc marginally increased300952wt: 0.4615 / mu: 0.4882 (marginal change - not scored)wt: CCTTAACTTCCTGCTTGCAGCGTTTGATCCGTAAGCACCCT
mu: CCTTAACTTCCTGCTTGCAGCGTTTGATCTGTAAGCACCCT		 cagc|GTTT
Donor decreased300960wt: 0.72 / mu: 0.23wt: TTGATCCGTAAGCAC
mu: TTGATCTGTAAGCAC		 GATC|cgta
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      121LLLNFLLAAFDPEGHGKISVFAVK
mutated  not conserved    121LEGHGKISVFAV
Ptroglodytes  all identical  ENSPTRG00000009964  121PEGHGKISVFAV
Mmulatta  all identical  ENSMMUG00000003302  121PEGHGKISVFAV
Fcatus  all identical  ENSFCAG00000011492  121P
Mmusculus  all identical  ENSMUSG00000024302  121PEGHGKISVFAV
Ggallus  all identical  ENSGALG00000015211  121PEGHGKISVFAV
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000031015  121QEGVGKISAFVM
Dmelanogaster  not conserved  FBgn0033739  112LLLNWLLAAYTSDNSGKIRVFSI
Celegans  not conserved  F47G6.1  142LLLAFLLGAYDKQNTGRLTVFSI
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1288REGIONInteraction with MAGEE1 (By similarity).lost
182182CONFLICTF -> L (in Ref. 1; AAC50426 and 2; AAB58541/AAB58542/AAB58543).might get lost (downstream of altered splice site)
237284ZN_FINGZZ-type.might get lost (downstream of altered splice site)
244246STRANDmight get lost (downstream of altered splice site)
255260STRANDmight get lost (downstream of altered splice site)
268273HELIXmight get lost (downstream of altered splice site)
278280STRANDmight get lost (downstream of altered splice site)
286289STRANDmight get lost (downstream of altered splice site)
314314CONFLICTE -> K (in Ref. 1; AAC50430).might get lost (downstream of altered splice site)
400450REGIONSyntrophin-binding region.might get lost (downstream of altered splice site)
461556COILEDPotential.might get lost (downstream of altered splice site)
558559CONFLICTAG -> GV (in Ref. 1; AAC50431).might get lost (downstream of altered splice site)
558561CONFLICTAGSP -> SGTH (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
565565CONFLICTP -> R (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
568568CONFLICTT -> S (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
662662MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
689689CONFLICTT -> S (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1116 / 1116
position (AA) of stopcodon in wt / mu AA sequence 372 / 372
position of stopcodon in wt / mu cDNA 1423 / 1423
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 308 / 308
chromosome 18
strand 1
last intron/exon boundary 1393
theoretical NMD boundary in CDS 1035
length of CDS 1116
coding sequence (CDS) position 362
cDNA position
(for ins/del: last normal base / first normal base)		 669
gDNA position
(for ins/del: last normal base / first normal base)		 300961
chromosomal position
(for ins/del: last normal base / first normal base)		 32374214
original gDNA sequence snippet CCTGCTTGCAGCGTTTGATCCGTAAGCACCCTCTGAATGTC
altered gDNA sequence snippet CCTGCTTGCAGCGTTTGATCTGTAAGCACCCTCTGAATGTC
original cDNA sequence snippet CCTGCTTGCAGCGTTTGATCCGGAAGGCCATGGTAAAATTT
altered cDNA sequence snippet CCTGCTTGCAGCGTTTGATCTGGAAGGCCATGGTAAAATTT
wildtype AA sequence MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE
ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD
PEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA
VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP
VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT
NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVPPRPVT SMNDTLFSHS VPSSGSPFIT
RSSDGAFGGC V*
mutated AA sequence MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE
ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD
LEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA
VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP
VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT
NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVPPRPVT SMNDTLFSHS VPSSGSPFIT
RSSDGAFGGC V*
speed 0.75 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: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM013914)
  • known disease mutation: rs8306 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:32374214C>TN/A show variant in all transcripts   IGV
HGNC symbol DTNA
Ensembl transcript ID ENST00000399121
Genbank transcript ID NM_001198939
UniProt peptide Q9Y4J8
alteration type single base exchange
alteration region CDS
DNA changes c.362C>T
cDNA.669C>T
g.300961C>T
AA changes P121L Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 121
frameshift no
known variant Reference ID: rs104894654
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs8306 (pathogenic for Left ventricular noncompaction 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)

known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)
known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H2AZ, Histone, Histone 2A variant Z
phyloP / phastCons
PhyloPPhastCons
(flanking)2.5641
1.9931
(flanking)5.7741
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost300960sequence motif lost- wt: ATCC|gtaa
 mu: ATCT.gtaa
Acc increased300951wt: 0.42 / mu: 0.47wt: TCCTTAACTTCCTGCTTGCAGCGTTTGATCCGTAAGCACCC
mu: TCCTTAACTTCCTGCTTGCAGCGTTTGATCTGTAAGCACCC		 gcag|CGTT
Acc marginally increased300952wt: 0.4615 / mu: 0.4882 (marginal change - not scored)wt: CCTTAACTTCCTGCTTGCAGCGTTTGATCCGTAAGCACCCT
mu: CCTTAACTTCCTGCTTGCAGCGTTTGATCTGTAAGCACCCT		 cagc|GTTT
Donor decreased300960wt: 0.72 / mu: 0.23wt: TTGATCCGTAAGCAC
mu: TTGATCTGTAAGCAC		 GATC|cgta
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      121LLLNFLLAAFDPEGHGKISVFAVK
mutated  not conserved    121LEGHGKISVFAV
Ptroglodytes  all identical  ENSPTRG00000009964  121PEGHGKISVFAV
Mmulatta  all identical  ENSMMUG00000003302  121PEGHGKISVFAV
Fcatus  no alignment  ENSFCAG00000011492  n/a
Mmusculus  all identical  ENSMUSG00000024302  121PEGHGKISVFAV
Ggallus  all identical  ENSGALG00000015211  121PEGHGKISVFAV
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000031015  121QEGVGKISAFVM
Dmelanogaster  not conserved  FBgn0033739  112LLLNWLLAAYTSDNSGKIRVFSI
Celegans  not conserved  F47G6.1  142LLLAFLLGAYDKQNTGRLTVFSI
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1288REGIONInteraction with MAGEE1 (By similarity).lost
182182CONFLICTF -> L (in Ref. 1; AAC50426 and 2; AAB58541/AAB58542/AAB58543).might get lost (downstream of altered splice site)
237284ZN_FINGZZ-type.might get lost (downstream of altered splice site)
244246STRANDmight get lost (downstream of altered splice site)
255260STRANDmight get lost (downstream of altered splice site)
268273HELIXmight get lost (downstream of altered splice site)
278280STRANDmight get lost (downstream of altered splice site)
286289STRANDmight get lost (downstream of altered splice site)
314314CONFLICTE -> K (in Ref. 1; AAC50430).might get lost (downstream of altered splice site)
400450REGIONSyntrophin-binding region.might get lost (downstream of altered splice site)
461556COILEDPotential.might get lost (downstream of altered splice site)
558559CONFLICTAG -> GV (in Ref. 1; AAC50431).might get lost (downstream of altered splice site)
558561CONFLICTAGSP -> SGTH (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
565565CONFLICTP -> R (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
568568CONFLICTT -> S (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
662662MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
689689CONFLICTT -> S (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2073 / 2073
position (AA) of stopcodon in wt / mu AA sequence 691 / 691
position of stopcodon in wt / mu cDNA 2380 / 2380
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 308 / 308
chromosome 18
strand 1
last intron/exon boundary 2412
theoretical NMD boundary in CDS 2054
length of CDS 2073
coding sequence (CDS) position 362
cDNA position
(for ins/del: last normal base / first normal base)		 669
gDNA position
(for ins/del: last normal base / first normal base)		 300961
chromosomal position
(for ins/del: last normal base / first normal base)		 32374214
original gDNA sequence snippet CCTGCTTGCAGCGTTTGATCCGTAAGCACCCTCTGAATGTC
altered gDNA sequence snippet CCTGCTTGCAGCGTTTGATCTGTAAGCACCCTCTGAATGTC
original cDNA sequence snippet CCTGCTTGCAGCGTTTGATCCGGAAGGCCATGGTAAAATTT
altered cDNA sequence snippet CCTGCTTGCAGCGTTTGATCTGGAAGGCCATGGTAAAATTT
wildtype AA sequence MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE
ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD
PEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA
VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP
VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT
NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVPPRPVT SMNDTLFSHS VPSSGSPFIT
RSMLESSNRL DEEHRLIARY AARLAAESSS SQPPQQRSAP DISFTIDANK QQRQLIAELE
NKNREILQEI QRLRLEHEQA SQPTPEKAQQ NPTLLAELRL LRQRKDELEQ RMSALQESRR
ELMVQLEGLM KLLKEEELKQ GTQGAGSPRS SPSHTISRPI PMPIRSASAC STPTHTPQDS
LTGVGGDVQE AFAQSSRRNL RNDLLVAADS ITNTMSSLVK ELNSEVGSET ESNVDSEFAR
TQFEDLVPSP TSEKAFLAQI HARKPGYIHS GATTSTMRGD MVTEDADPYV QPEDENYEND
SVRQLENELQ MEEYLKQKLQ DEAYQVSLQG *
mutated AA sequence MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE
ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD
LEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA
VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP
VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT
NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVPPRPVT SMNDTLFSHS VPSSGSPFIT
RSMLESSNRL DEEHRLIARY AARLAAESSS SQPPQQRSAP DISFTIDANK QQRQLIAELE
NKNREILQEI QRLRLEHEQA SQPTPEKAQQ NPTLLAELRL LRQRKDELEQ RMSALQESRR
ELMVQLEGLM KLLKEEELKQ GTQGAGSPRS SPSHTISRPI PMPIRSASAC STPTHTPQDS
LTGVGGDVQE AFAQSSRRNL RNDLLVAADS ITNTMSSLVK ELNSEVGSET ESNVDSEFAR
TQFEDLVPSP TSEKAFLAQI HARKPGYIHS GATTSTMRGD MVTEDADPYV QPEDENYEND
SVRQLENELQ MEEYLKQKLQ DEAYQVSLQG *
speed 0.64 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: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM013914)
  • known disease mutation: rs8306 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:32374214C>TN/A show variant in all transcripts   IGV
HGNC symbol DTNA
Ensembl transcript ID ENST00000348997
Genbank transcript ID NM_032978
UniProt peptide Q9Y4J8
alteration type single base exchange
alteration region CDS
DNA changes c.362C>T
cDNA.525C>T
g.300961C>T
AA changes P121L Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 121
frameshift no
known variant Reference ID: rs104894654
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs8306 (pathogenic for Left ventricular noncompaction 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)

known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)
known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H2AZ, Histone, Histone 2A variant Z
phyloP / phastCons
PhyloPPhastCons
(flanking)2.5641
1.9931
(flanking)5.7741
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost300960sequence motif lost- wt: ATCC|gtaa
 mu: ATCT.gtaa
Acc increased300951wt: 0.42 / mu: 0.47wt: TCCTTAACTTCCTGCTTGCAGCGTTTGATCCGTAAGCACCC
mu: TCCTTAACTTCCTGCTTGCAGCGTTTGATCTGTAAGCACCC		 gcag|CGTT
Acc marginally increased300952wt: 0.4615 / mu: 0.4882 (marginal change - not scored)wt: CCTTAACTTCCTGCTTGCAGCGTTTGATCCGTAAGCACCCT
mu: CCTTAACTTCCTGCTTGCAGCGTTTGATCTGTAAGCACCCT		 cagc|GTTT
Donor decreased300960wt: 0.72 / mu: 0.23wt: TTGATCCGTAAGCAC
mu: TTGATCTGTAAGCAC		 GATC|cgta
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      121LLLNFLLAAFDPEGHGKISVFAVK
mutated  not conserved    121LEGHGKISVFAV
Ptroglodytes  all identical  ENSPTRG00000009964  121PEGHGKISVFAV
Mmulatta  all identical  ENSMMUG00000003302  121PEGHGKISVFAV
Fcatus  no alignment  ENSFCAG00000011492  n/a
Mmusculus  all identical  ENSMUSG00000024302  121PEGHGKISVFAV
Ggallus  all identical  ENSGALG00000015211  121PEGHGKISVFAV
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000031015  121QEGVGKISAFVM
Dmelanogaster  not conserved  FBgn0033739  112LLLNWLLAAYTSDNSGKIRVFSI
Celegans  not conserved  F47G6.1  142LLLAFLLGAYDKQNTGRLTVFSI
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1288REGIONInteraction with MAGEE1 (By similarity).lost
182182CONFLICTF -> L (in Ref. 1; AAC50426 and 2; AAB58541/AAB58542/AAB58543).might get lost (downstream of altered splice site)
237284ZN_FINGZZ-type.might get lost (downstream of altered splice site)
244246STRANDmight get lost (downstream of altered splice site)
255260STRANDmight get lost (downstream of altered splice site)
268273HELIXmight get lost (downstream of altered splice site)
278280STRANDmight get lost (downstream of altered splice site)
286289STRANDmight get lost (downstream of altered splice site)
314314CONFLICTE -> K (in Ref. 1; AAC50430).might get lost (downstream of altered splice site)
400450REGIONSyntrophin-binding region.might get lost (downstream of altered splice site)
461556COILEDPotential.might get lost (downstream of altered splice site)
558559CONFLICTAG -> GV (in Ref. 1; AAC50431).might get lost (downstream of altered splice site)
558561CONFLICTAGSP -> SGTH (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
565565CONFLICTP -> R (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
568568CONFLICTT -> S (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
662662MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
689689CONFLICTT -> S (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1704 / 1704
position (AA) of stopcodon in wt / mu AA sequence 568 / 568
position of stopcodon in wt / mu cDNA 1867 / 1867
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 164 / 164
chromosome 18
strand 1
last intron/exon boundary 1817
theoretical NMD boundary in CDS 1603
length of CDS 1704
coding sequence (CDS) position 362
cDNA position
(for ins/del: last normal base / first normal base)		 525
gDNA position
(for ins/del: last normal base / first normal base)		 300961
chromosomal position
(for ins/del: last normal base / first normal base)		 32374214
original gDNA sequence snippet CCTGCTTGCAGCGTTTGATCCGTAAGCACCCTCTGAATGTC
altered gDNA sequence snippet CCTGCTTGCAGCGTTTGATCTGTAAGCACCCTCTGAATGTC
original cDNA sequence snippet CCTGCTTGCAGCGTTTGATCCGGAAGGCCATGGTAAAATTT
altered cDNA sequence snippet CCTGCTTGCAGCGTTTGATCTGGAAGGCCATGGTAAAATTT
wildtype AA sequence MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE
ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD
PEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA
VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP
VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT
NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVPPRPVT SMNDTLFSHS VPSSGSPFIT
RSSPPKDSEV EQNKLLARAA PAFLKGKGIQ YSLNVADRLA DEHVLIGLYV NMLRNNPSCM
LESSNRLDEE HRLIARYAAR LAAESSSSQP PQQRSAPDIS FTIDANKQQR QLIAELENKN
REILQEIQRL RLEHEQASQP TPEKAQQNPT LLAELRLLRQ RKDELEQRMS ALQESRRELM
VQLEGLMKLL KEEELKQGVS YVPYCRS*
mutated AA sequence MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE
ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD
LEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA
VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP
VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT
NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVPPRPVT SMNDTLFSHS VPSSGSPFIT
RSSPPKDSEV EQNKLLARAA PAFLKGKGIQ YSLNVADRLA DEHVLIGLYV NMLRNNPSCM
LESSNRLDEE HRLIARYAAR LAAESSSSQP PQQRSAPDIS FTIDANKQQR QLIAELENKN
REILQEIQRL RLEHEQASQP TPEKAQQNPT LLAELRLLRQ RKDELEQRMS ALQESRRELM
VQLEGLMKLL KEEELKQGVS YVPYCRS*
speed 0.90 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: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM013914)
  • known disease mutation: rs8306 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:32374214C>TN/A show variant in all transcripts   IGV
HGNC symbol DTNA
Ensembl transcript ID ENST00000283365
Genbank transcript ID NM_001198943
UniProt peptide Q9Y4J8
alteration type single base exchange
alteration region CDS
DNA changes c.362C>T
cDNA.713C>T
g.300961C>T
AA changes P121L Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 121
frameshift no
known variant Reference ID: rs104894654
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs8306 (pathogenic for Left ventricular noncompaction 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)

known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)
known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H2AZ, Histone, Histone 2A variant Z
phyloP / phastCons
PhyloPPhastCons
(flanking)2.5641
1.9931
(flanking)5.7741
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost300960sequence motif lost- wt: ATCC|gtaa
 mu: ATCT.gtaa
Acc increased300951wt: 0.42 / mu: 0.47wt: TCCTTAACTTCCTGCTTGCAGCGTTTGATCCGTAAGCACCC
mu: TCCTTAACTTCCTGCTTGCAGCGTTTGATCTGTAAGCACCC		 gcag|CGTT
Acc marginally increased300952wt: 0.4615 / mu: 0.4882 (marginal change - not scored)wt: CCTTAACTTCCTGCTTGCAGCGTTTGATCCGTAAGCACCCT
mu: CCTTAACTTCCTGCTTGCAGCGTTTGATCTGTAAGCACCCT		 cagc|GTTT
Donor decreased300960wt: 0.72 / mu: 0.23wt: TTGATCCGTAAGCAC
mu: TTGATCTGTAAGCAC		 GATC|cgta
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      121LLLNFLLAAFDPEGHGKISVFAVK
mutated  not conserved    121LEGHGKISVFAV
Ptroglodytes  all identical  ENSPTRG00000009964  121PEGHGKISVFAV
Mmulatta  all identical  ENSMMUG00000003302  121PEGHGKISVFAV
Fcatus  no alignment  ENSFCAG00000011492  n/a
Mmusculus  all identical  ENSMUSG00000024302  121PEGHGKISVFAV
Ggallus  all identical  ENSGALG00000015211  121PEGHGKISVFAV
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000031015  121QEGVGKISAFVM
Dmelanogaster  not conserved  FBgn0033739  112LLLNWLLAAYTSDNSGKIRVFSI
Celegans  not conserved  F47G6.1  142LLLAFLLGAYDKQNTGRLTVFSI
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1288REGIONInteraction with MAGEE1 (By similarity).lost
182182CONFLICTF -> L (in Ref. 1; AAC50426 and 2; AAB58541/AAB58542/AAB58543).might get lost (downstream of altered splice site)
237284ZN_FINGZZ-type.might get lost (downstream of altered splice site)
244246STRANDmight get lost (downstream of altered splice site)
255260STRANDmight get lost (downstream of altered splice site)
268273HELIXmight get lost (downstream of altered splice site)
278280STRANDmight get lost (downstream of altered splice site)
286289STRANDmight get lost (downstream of altered splice site)
314314CONFLICTE -> K (in Ref. 1; AAC50430).might get lost (downstream of altered splice site)
400450REGIONSyntrophin-binding region.might get lost (downstream of altered splice site)
461556COILEDPotential.might get lost (downstream of altered splice site)
558559CONFLICTAG -> GV (in Ref. 1; AAC50431).might get lost (downstream of altered splice site)
558561CONFLICTAGSP -> SGTH (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
565565CONFLICTP -> R (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
568568CONFLICTT -> S (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
662662MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
689689CONFLICTT -> S (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2061 / 2061
position (AA) of stopcodon in wt / mu AA sequence 687 / 687
position of stopcodon in wt / mu cDNA 2412 / 2412
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 352 / 352
chromosome 18
strand 1
last intron/exon boundary 2444
theoretical NMD boundary in CDS 2042
length of CDS 2061
coding sequence (CDS) position 362
cDNA position
(for ins/del: last normal base / first normal base)		 713
gDNA position
(for ins/del: last normal base / first normal base)		 300961
chromosomal position
(for ins/del: last normal base / first normal base)		 32374214
original gDNA sequence snippet CCTGCTTGCAGCGTTTGATCCGTAAGCACCCTCTGAATGTC
altered gDNA sequence snippet CCTGCTTGCAGCGTTTGATCTGTAAGCACCCTCTGAATGTC
original cDNA sequence snippet CCTGCTTGCAGCGTTTGATCCGGAAGGCCATGGTAAAATTT
altered cDNA sequence snippet CCTGCTTGCAGCGTTTGATCTGGAAGGCCATGGTAAAATTT
wildtype AA sequence MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE
ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD
PEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA
VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP
VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT
NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVDTWPPR PVTSMNDTLF SHSVPSSGSP
FITRSMLESS NRLDEEHRLI ARYAARLAAE SSSSQPPQQR SAPDISFTID ANKQQRQLIA
ELENKNREIL QEIQRLRLEH EQASQPTPEK AQQNPTLLAE LRLLRQRKDE LEQRMSALQE
SRRELMVQLE GLMKLLKTQG AGSPRSSPSH TISRPIPMPI RSASACSTPT HTPQDSLTGV
GGDVQEAFAQ SSRRNLRNDL LVAADSITNT MSSLVKELNS EVGSETESNV DSEFARTQFE
DLVPSPTSEK AFLAQIHARK PGYIHSGATT STMRGDMVTE DADPYVQPED ENYENDSVRQ
LENELQMEEY LKQKLQDEAY QVSLQG*
mutated AA sequence MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE
ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD
LEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA
VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP
VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT
NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVDTWPPR PVTSMNDTLF SHSVPSSGSP
FITRSMLESS NRLDEEHRLI ARYAARLAAE SSSSQPPQQR SAPDISFTID ANKQQRQLIA
ELENKNREIL QEIQRLRLEH EQASQPTPEK AQQNPTLLAE LRLLRQRKDE LEQRMSALQE
SRRELMVQLE GLMKLLKTQG AGSPRSSPSH TISRPIPMPI RSASACSTPT HTPQDSLTGV
GGDVQEAFAQ SSRRNLRNDL LVAADSITNT MSSLVKELNS EVGSETESNV DSEFARTQFE
DLVPSPTSEK AFLAQIHARK PGYIHSGATT STMRGDMVTE DADPYVQPED ENYENDSVRQ
LENELQMEEY LKQKLQDEAY QVSLQG*
speed 0.63 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: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM013914)
  • known disease mutation: rs8306 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:32374214C>TN/A show variant in all transcripts   IGV
HGNC symbol DTNA
Ensembl transcript ID ENST00000399113
Genbank transcript ID N/A
UniProt peptide Q9Y4J8
alteration type single base exchange
alteration region CDS
DNA changes c.362C>T
cDNA.362C>T
g.300961C>T
AA changes P121L Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 121
frameshift no
known variant Reference ID: rs104894654
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs8306 (pathogenic for Left ventricular noncompaction 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)

known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)
known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H2AZ, Histone, Histone 2A variant Z
phyloP / phastCons
PhyloPPhastCons
(flanking)2.5641
1.9931
(flanking)5.7741
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost300960sequence motif lost- wt: ATCC|gtaa
 mu: ATCT.gtaa
Acc increased300951wt: 0.42 / mu: 0.47wt: TCCTTAACTTCCTGCTTGCAGCGTTTGATCCGTAAGCACCC
mu: TCCTTAACTTCCTGCTTGCAGCGTTTGATCTGTAAGCACCC		 gcag|CGTT
Acc marginally increased300952wt: 0.4615 / mu: 0.4882 (marginal change - not scored)wt: CCTTAACTTCCTGCTTGCAGCGTTTGATCCGTAAGCACCCT
mu: CCTTAACTTCCTGCTTGCAGCGTTTGATCTGTAAGCACCCT		 cagc|GTTT
Donor decreased300960wt: 0.72 / mu: 0.23wt: TTGATCCGTAAGCAC
mu: TTGATCTGTAAGCAC		 GATC|cgta
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      121LLLNFLLAAFDPEGHGKISVFAVK
mutated  not conserved    121LEGHGKISVFAV
Ptroglodytes  all identical  ENSPTRG00000009964  121PEGHGKISVFAV
Mmulatta  all identical  ENSMMUG00000003302  121PEGHGKISVFAV
Fcatus  no alignment  ENSFCAG00000011492  n/a
Mmusculus  all identical  ENSMUSG00000024302  121PEGHGKISVFAV
Ggallus  all identical  ENSGALG00000015211  121PEGHGKISVFAV
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000031015  121QEGVGKISAFVM
Dmelanogaster  not conserved  FBgn0033739  112LLLNWLLAAYTSDNSGKIRVFSI
Celegans  not conserved  F47G6.1  142LLLAFLLGAYDKQNTGRLTVFSI
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1288REGIONInteraction with MAGEE1 (By similarity).lost
182182CONFLICTF -> L (in Ref. 1; AAC50426 and 2; AAB58541/AAB58542/AAB58543).might get lost (downstream of altered splice site)
237284ZN_FINGZZ-type.might get lost (downstream of altered splice site)
244246STRANDmight get lost (downstream of altered splice site)
255260STRANDmight get lost (downstream of altered splice site)
268273HELIXmight get lost (downstream of altered splice site)
278280STRANDmight get lost (downstream of altered splice site)
286289STRANDmight get lost (downstream of altered splice site)
314314CONFLICTE -> K (in Ref. 1; AAC50430).might get lost (downstream of altered splice site)
400450REGIONSyntrophin-binding region.might get lost (downstream of altered splice site)
461556COILEDPotential.might get lost (downstream of altered splice site)
558559CONFLICTAG -> GV (in Ref. 1; AAC50431).might get lost (downstream of altered splice site)
558561CONFLICTAGSP -> SGTH (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
565565CONFLICTP -> R (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
568568CONFLICTT -> S (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
662662MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
689689CONFLICTT -> S (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2232 / 2232
position (AA) of stopcodon in wt / mu AA sequence 744 / 744
position of stopcodon in wt / mu cDNA 2232 / 2232
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 1 / 1
chromosome 18
strand 1
last intron/exon boundary 2215
theoretical NMD boundary in CDS 2164
length of CDS 2232
coding sequence (CDS) position 362
cDNA position
(for ins/del: last normal base / first normal base)		 362
gDNA position
(for ins/del: last normal base / first normal base)		 300961
chromosomal position
(for ins/del: last normal base / first normal base)		 32374214
original gDNA sequence snippet CCTGCTTGCAGCGTTTGATCCGTAAGCACCCTCTGAATGTC
altered gDNA sequence snippet CCTGCTTGCAGCGTTTGATCTGTAAGCACCCTCTGAATGTC
original cDNA sequence snippet CCTGCTTGCAGCGTTTGATCCGGAAGGCCATGGTAAAATTT
altered cDNA sequence snippet CCTGCTTGCAGCGTTTGATCTGGAAGGCCATGGTAAAATTT
wildtype AA sequence MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE
ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD
PEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA
VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP
VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT
NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVDTWPPR PVTSMNDTLF SHSVPSSGSP
FITRSSPPKD SEVEQNKLLA RAAPAFLKGK GIQYSLNVAD RLADEHVLIG LYVNMLRNNP
SCMLESSNRL DEEHRLIARY AARLAAESSS SQPPQQRSAP DISFTIDANK QQRQLIAELE
NKNREILQEI QRLRLEHEQA SQPTPEKAQQ NPTLLAELRL LRQRKDELEQ RMSALQESRR
ELMVQLEGLM KLLKTQGAGS PRSSPSHTIS RPIPMPIRSA SACSTPTHTP QDSLTGVGGD
VQEAFAQSSR RNLRNDLLVA ADSITNTMSS LVKELNSEVG SETESNVDSE FARTQFEDLV
PSPTSEKAFL AQIHARKPGY IHSGATTSTM RGDMVTEDAD PYVQPEDENY ENDSVRQLEN
ELQMEEYLKQ KLQDEAYQVS LQG*
mutated AA sequence MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE
ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD
LEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA
VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP
VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT
NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVDTWPPR PVTSMNDTLF SHSVPSSGSP
FITRSSPPKD SEVEQNKLLA RAAPAFLKGK GIQYSLNVAD RLADEHVLIG LYVNMLRNNP
SCMLESSNRL DEEHRLIARY AARLAAESSS SQPPQQRSAP DISFTIDANK QQRQLIAELE
NKNREILQEI QRLRLEHEQA SQPTPEKAQQ NPTLLAELRL LRQRKDELEQ RMSALQESRR
ELMVQLEGLM KLLKTQGAGS PRSSPSHTIS RPIPMPIRSA SACSTPTHTP QDSLTGVGGD
VQEAFAQSSR RNLRNDLLVA ADSITNTMSS LVKELNSEVG SETESNVDSE FARTQFEDLV
PSPTSEKAFL AQIHARKPGY IHSGATTSTM RGDMVTEDAD PYVQPEDENY ENDSVRQLEN
ELQMEEYLKQ KLQDEAYQVS LQG*
speed 0.71 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM013914)
  • known disease mutation: rs8306 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:32374214C>TN/A show variant in all transcripts   IGV
HGNC symbol DTNA
Ensembl transcript ID ENST00000399097
Genbank transcript ID N/A
UniProt peptide Q9Y4J8
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.662C>T
g.300961C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs104894654
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs8306 (pathogenic for Left ventricular noncompaction 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)

known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)
known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H2AZ, Histone, Histone 2A variant Z
phyloP / phastCons
PhyloPPhastCons
(flanking)2.5641
1.9931
(flanking)5.7741
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
splice site change before start ATG (at aa -200) | splice site change before start ATG (at aa -197) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost300960sequence motif lost- wt: ATCC|gtaa
 mu: ATCT.gtaa
Acc increased300951wt: 0.42 / mu: 0.47wt: TCCTTAACTTCCTGCTTGCAGCGTTTGATCCGTAAGCACCC
mu: TCCTTAACTTCCTGCTTGCAGCGTTTGATCTGTAAGCACCC		 gcag|CGTT
Acc marginally increased300952wt: 0.4615 / mu: 0.4882 (marginal change - not scored)wt: CCTTAACTTCCTGCTTGCAGCGTTTGATCCGTAAGCACCCT
mu: CCTTAACTTCCTGCTTGCAGCGTTTGATCTGTAAGCACCCT		 cagc|GTTT
Donor decreased300960wt: 0.72 / mu: 0.23wt: TTGATCCGTAAGCAC
mu: TTGATCTGTAAGCAC		 GATC|cgta
distance from splice site 2
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
1288REGIONInteraction with MAGEE1 (By similarity).might get lost (downstream of altered splice site)
4545CONFLICTQ -> H (in Ref. 2; AAB58541/AAB58542/ AAB58543).might get lost (downstream of altered splice site)
6464CONFLICTE -> K (in Ref. 3; CAA08769).might get lost (downstream of altered splice site)
182182CONFLICTF -> L (in Ref. 1; AAC50426 and 2; AAB58541/AAB58542/AAB58543).might get lost (downstream of altered splice site)
237284ZN_FINGZZ-type.might get lost (downstream of altered splice site)
244246STRANDmight get lost (downstream of altered splice site)
255260STRANDmight get lost (downstream of altered splice site)
268273HELIXmight get lost (downstream of altered splice site)
278280STRANDmight get lost (downstream of altered splice site)
286289STRANDmight get lost (downstream of altered splice site)
314314CONFLICTE -> K (in Ref. 1; AAC50430).might get lost (downstream of altered splice site)
400450REGIONSyntrophin-binding region.might get lost (downstream of altered splice site)
461556COILEDPotential.might get lost (downstream of altered splice site)
558559CONFLICTAG -> GV (in Ref. 1; AAC50431).might get lost (downstream of altered splice site)
558561CONFLICTAGSP -> SGTH (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
565565CONFLICTP -> R (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
568568CONFLICTT -> S (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
662662MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
689689CONFLICTT -> S (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 1255 / 1255
chromosome 18
strand 1
last intron/exon boundary 2462
theoretical NMD boundary in CDS 1157
length of CDS 1176
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 662
gDNA position
(for ins/del: last normal base / first normal base)		 300961
chromosomal position
(for ins/del: last normal base / first normal base)		 32374214
original gDNA sequence snippet CCTGCTTGCAGCGTTTGATCCGTAAGCACCCTCTGAATGTC
altered gDNA sequence snippet CCTGCTTGCAGCGTTTGATCTGTAAGCACCCTCTGAATGTC
original cDNA sequence snippet CCTGCTTGCAGCGTTTGATCCGGAAGGCCATGGTAAAATTT
altered cDNA sequence snippet CCTGCTTGCAGCGTTTGATCTGGAAGGCCATGGTAAAATTT
wildtype AA sequence MFPDQPEKPL NLAHIVPPRP VTSMNDTLFS HSVPSSGSPF ITRSSPPKDS EVEQNKLLAR
AAPAFLKGKG MLESSNRLDE EHRLIARYAA RLAAESSSSQ PPQQRSAPDI SFTIDANKQQ
RQLIAELENK NREILQEIQR LRLEHEQASQ PTPEKAQQNP TLLAELRLLR QRKDELEQRM
SALQESRREL MVQLEGLMKL LKTQGAGSPR SSPSHTISRP IPMPIRSASA CSTPTHTPQD
SLTGVGGDVQ EAFAQSSRRN LRNDLLVAAD SITNTMSSLV KELNSEVGSE TESNVDSEFA
RTQFEDLVPS PTSEKAFLAQ IHARKPGYIH SGATTSTMRG DMVTEDADPY VQPEDENYEN
DSVRQLENEL QMEEYLKQKL QDEAYQVSLQ G*
mutated AA sequence N/A
speed 0.35 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: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM013914)
  • known disease mutation: rs8306 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:32374214C>TN/A show variant in all transcripts   IGV
HGNC symbol DTNA
Ensembl transcript ID ENST00000444659
Genbank transcript ID NM_001390
UniProt peptide Q9Y4J8
alteration type single base exchange
alteration region CDS
DNA changes c.362C>T
cDNA.363C>T
g.300961C>T
AA changes P121L Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 121
frameshift no
known variant Reference ID: rs104894654
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs8306 (pathogenic for Left ventricular noncompaction 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)

known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)
known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H2AZ, Histone, Histone 2A variant Z
phyloP / phastCons
PhyloPPhastCons
(flanking)2.5641
1.9931
(flanking)5.7741
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost300960sequence motif lost- wt: ATCC|gtaa
 mu: ATCT.gtaa
Acc increased300951wt: 0.42 / mu: 0.47wt: TCCTTAACTTCCTGCTTGCAGCGTTTGATCCGTAAGCACCC
mu: TCCTTAACTTCCTGCTTGCAGCGTTTGATCTGTAAGCACCC		 gcag|CGTT
Acc marginally increased300952wt: 0.4615 / mu: 0.4882 (marginal change - not scored)wt: CCTTAACTTCCTGCTTGCAGCGTTTGATCCGTAAGCACCCT
mu: CCTTAACTTCCTGCTTGCAGCGTTTGATCTGTAAGCACCCT		 cagc|GTTT
Donor decreased300960wt: 0.72 / mu: 0.23wt: TTGATCCGTAAGCAC
mu: TTGATCTGTAAGCAC		 GATC|cgta
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      121LLLNFLLAAFDPEGHGKISVFAVK
mutated  not conserved    121LEGHGKISVFAV
Ptroglodytes  all identical  ENSPTRG00000009964  121PEGHGKISVFAV
Mmulatta  all identical  ENSMMUG00000003302  121PEGHGKISVFAV
Fcatus  no alignment  ENSFCAG00000011492  n/a
Mmusculus  all identical  ENSMUSG00000024302  121PEGHGKISVFAV
Ggallus  all identical  ENSGALG00000015211  121PEGHGKISVFAV
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000031015  121QEGVGKISAFVM
Dmelanogaster  not conserved  FBgn0033739  112LLLNWLLAAYTSDNSGKIRVFSI
Celegans  not conserved  F47G6.1  142LLLAFLLGAYDKQNTGRLTVFSI
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1288REGIONInteraction with MAGEE1 (By similarity).lost
182182CONFLICTF -> L (in Ref. 1; AAC50426 and 2; AAB58541/AAB58542/AAB58543).might get lost (downstream of altered splice site)
237284ZN_FINGZZ-type.might get lost (downstream of altered splice site)
244246STRANDmight get lost (downstream of altered splice site)
255260STRANDmight get lost (downstream of altered splice site)
268273HELIXmight get lost (downstream of altered splice site)
278280STRANDmight get lost (downstream of altered splice site)
286289STRANDmight get lost (downstream of altered splice site)
314314CONFLICTE -> K (in Ref. 1; AAC50430).might get lost (downstream of altered splice site)
400450REGIONSyntrophin-binding region.might get lost (downstream of altered splice site)
461556COILEDPotential.might get lost (downstream of altered splice site)
558559CONFLICTAG -> GV (in Ref. 1; AAC50431).might get lost (downstream of altered splice site)
558561CONFLICTAGSP -> SGTH (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
565565CONFLICTP -> R (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
568568CONFLICTT -> S (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
662662MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
689689CONFLICTT -> S (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2232 / 2232
position (AA) of stopcodon in wt / mu AA sequence 744 / 744
position of stopcodon in wt / mu cDNA 2233 / 2233
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 2 / 2
chromosome 18
strand 1
last intron/exon boundary 2265
theoretical NMD boundary in CDS 2213
length of CDS 2232
coding sequence (CDS) position 362
cDNA position
(for ins/del: last normal base / first normal base)		 363
gDNA position
(for ins/del: last normal base / first normal base)		 300961
chromosomal position
(for ins/del: last normal base / first normal base)		 32374214
original gDNA sequence snippet CCTGCTTGCAGCGTTTGATCCGTAAGCACCCTCTGAATGTC
altered gDNA sequence snippet CCTGCTTGCAGCGTTTGATCTGTAAGCACCCTCTGAATGTC
original cDNA sequence snippet CCTGCTTGCAGCGTTTGATCCGGAAGGCCATGGTAAAATTT
altered cDNA sequence snippet CCTGCTTGCAGCGTTTGATCTGGAAGGCCATGGTAAAATTT
wildtype AA sequence MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE
ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD
PEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA
VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP
VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT
NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVDTWPPR PVTSMNDTLF SHSVPSSGSP
FITRSSPPKD SEVEQNKLLA RAAPAFLKGK GIQYSLNVAD RLADEHVLIG LYVNMLRNNP
SCMLESSNRL DEEHRLIARY AARLAAESSS SQPPQQRSAP DISFTIDANK QQRQLIAELE
NKNREILQEI QRLRLEHEQA SQPTPEKAQQ NPTLLAELRL LRQRKDELEQ RMSALQESRR
ELMVQLEGLM KLLKTQGAGS PRSSPSHTIS RPIPMPIRSA SACSTPTHTP QDSLTGVGGD
VQEAFAQSSR RNLRNDLLVA ADSITNTMSS LVKELNSEVG SETESNVDSE FARTQFEDLV
PSPTSEKAFL AQIHARKPGY IHSGATTSTM RGDMVTEDAD PYVQPEDENY ENDSVRQLEN
ELQMEEYLKQ KLQDEAYQVS LQG*
mutated AA sequence MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE
ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD
LEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA
VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP
VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT
NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVDTWPPR PVTSMNDTLF SHSVPSSGSP
FITRSSPPKD SEVEQNKLLA RAAPAFLKGK GIQYSLNVAD RLADEHVLIG LYVNMLRNNP
SCMLESSNRL DEEHRLIARY AARLAAESSS SQPPQQRSAP DISFTIDANK QQRQLIAELE
NKNREILQEI QRLRLEHEQA SQPTPEKAQQ NPTLLAELRL LRQRKDELEQ RMSALQESRR
ELMVQLEGLM KLLKTQGAGS PRSSPSHTIS RPIPMPIRSA SACSTPTHTP QDSLTGVGGD
VQEAFAQSSR RNLRNDLLVA ADSITNTMSS LVKELNSEVG SETESNVDSE FARTQFEDLV
PSPTSEKAFL AQIHARKPGY IHSGATTSTM RGDMVTEDAD PYVQPEDENY ENDSVRQLEN
ELQMEEYLKQ KLQDEAYQVS LQG*
speed 0.93 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: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM013914)
  • known disease mutation: rs8306 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:32374214C>TN/A show variant in all transcripts   IGV
HGNC symbol DTNA
Ensembl transcript ID ENST00000269190
Genbank transcript ID N/A
UniProt peptide Q9Y4J8
alteration type single base exchange
alteration region CDS
DNA changes c.362C>T
cDNA.662C>T
g.300961C>T
AA changes P121L Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 121
frameshift no
known variant Reference ID: rs104894654
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs8306 (pathogenic for Left ventricular noncompaction 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)

known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)
known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H2AZ, Histone, Histone 2A variant Z
phyloP / phastCons
PhyloPPhastCons
(flanking)2.5641
1.9931
(flanking)5.7741
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost300960sequence motif lost- wt: ATCC|gtaa
 mu: ATCT.gtaa
Acc increased300951wt: 0.42 / mu: 0.47wt: TCCTTAACTTCCTGCTTGCAGCGTTTGATCCGTAAGCACCC
mu: TCCTTAACTTCCTGCTTGCAGCGTTTGATCTGTAAGCACCC		 gcag|CGTT
Acc marginally increased300952wt: 0.4615 / mu: 0.4882 (marginal change - not scored)wt: CCTTAACTTCCTGCTTGCAGCGTTTGATCCGTAAGCACCCT
mu: CCTTAACTTCCTGCTTGCAGCGTTTGATCTGTAAGCACCCT		 cagc|GTTT
Donor decreased300960wt: 0.72 / mu: 0.23wt: TTGATCCGTAAGCAC
mu: TTGATCTGTAAGCAC		 GATC|cgta
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      121LLLNFLLAAFDPEGHGKISVFAVK
mutated  not conserved    121LEGHGKISVFAV
Ptroglodytes  all identical  ENSPTRG00000009964  121PEGHGKISVFAV
Mmulatta  all identical  ENSMMUG00000003302  121PEGHGKISVFAV
Fcatus  no alignment  ENSFCAG00000011492  n/a
Mmusculus  all identical  ENSMUSG00000024302  121PEGHGKISVFAV
Ggallus  all identical  ENSGALG00000015211  121PEGHGKISVFAV
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000031015  121QEGVGKISAFVM
Dmelanogaster  not conserved  FBgn0033739  112LLLNWLLAAYTSDNSGKIRVFSI
Celegans  not conserved  F47G6.1  142LLLAFLLGAYDKQNTGRLTVFSI
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1288REGIONInteraction with MAGEE1 (By similarity).lost
182182CONFLICTF -> L (in Ref. 1; AAC50426 and 2; AAB58541/AAB58542/AAB58543).might get lost (downstream of altered splice site)
237284ZN_FINGZZ-type.might get lost (downstream of altered splice site)
244246STRANDmight get lost (downstream of altered splice site)
255260STRANDmight get lost (downstream of altered splice site)
268273HELIXmight get lost (downstream of altered splice site)
278280STRANDmight get lost (downstream of altered splice site)
286289STRANDmight get lost (downstream of altered splice site)
314314CONFLICTE -> K (in Ref. 1; AAC50430).might get lost (downstream of altered splice site)
400450REGIONSyntrophin-binding region.might get lost (downstream of altered splice site)
461556COILEDPotential.might get lost (downstream of altered splice site)
558559CONFLICTAG -> GV (in Ref. 1; AAC50431).might get lost (downstream of altered splice site)
558561CONFLICTAGSP -> SGTH (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
565565CONFLICTP -> R (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
568568CONFLICTT -> S (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
662662MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
689689CONFLICTT -> S (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2235 / 2235
position (AA) of stopcodon in wt / mu AA sequence 745 / 745
position of stopcodon in wt / mu cDNA 2535 / 2535
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 301 / 301
chromosome 18
strand 1
last intron/exon boundary 2567
theoretical NMD boundary in CDS 2216
length of CDS 2235
coding sequence (CDS) position 362
cDNA position
(for ins/del: last normal base / first normal base)		 662
gDNA position
(for ins/del: last normal base / first normal base)		 300961
chromosomal position
(for ins/del: last normal base / first normal base)		 32374214
original gDNA sequence snippet CCTGCTTGCAGCGTTTGATCCGTAAGCACCCTCTGAATGTC
altered gDNA sequence snippet CCTGCTTGCAGCGTTTGATCTGTAAGCACCCTCTGAATGTC
original cDNA sequence snippet CCTGCTTGCAGCGTTTGATCCGGAAGGCCATGGTAAAATTT
altered cDNA sequence snippet CCTGCTTGCAGCGTTTGATCTGGAAGGCCATGGTAAAATTT
wildtype AA sequence MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE
ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD
PEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA
VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP
VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT
NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVLDNMPP RPVTSMNDTL FSHSVPSSGS
PFITRSSPPK DSEVEQNKLL ARAAPAFLKG KGIQYSLNVA DRLADEHVLI GLYVNMLRNN
PSCMLESSNR LDEEHRLIAR YAARLAAESS SSQPPQQRSA PDISFTIDAN KQQRQLIAEL
ENKNREILQE IQRLRLEHEQ ASQPTPEKAQ QNPTLLAELR LLRQRKDELE QRMSALQESR
RELMVQLEGL MKLLKTQGAG SPRSSPSHTI SRPIPMPIRS ASACSTPTHT PQDSLTGVGG
DVQEAFAQSS RRNLRNDLLV AADSITNTMS SLVKELNSEV GSETESNVDS EFARTQFEDL
VPSPTSEKAF LAQIHARKPG YIHSGATTST MRGDMVTEDA DPYVQPEDEN YENDSVRQLE
NELQMEEYLK QKLQDEAYQV SLQG*
mutated AA sequence MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE
ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD
LEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA
VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP
VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT
NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVLDNMPP RPVTSMNDTL FSHSVPSSGS
PFITRSSPPK DSEVEQNKLL ARAAPAFLKG KGIQYSLNVA DRLADEHVLI GLYVNMLRNN
PSCMLESSNR LDEEHRLIAR YAARLAAESS SSQPPQQRSA PDISFTIDAN KQQRQLIAEL
ENKNREILQE IQRLRLEHEQ ASQPTPEKAQ QNPTLLAELR LLRQRKDELE QRMSALQESR
RELMVQLEGL MKLLKTQGAG SPRSSPSHTI SRPIPMPIRS ASACSTPTHT PQDSLTGVGG
DVQEAFAQSS RRNLRNDLLV AADSITNTMS SLVKELNSEV GSETESNVDS EFARTQFEDL
VPSPTSEKAF LAQIHARKPG YIHSGATTST MRGDMVTEDA DPYVQPEDEN YENDSVRQLE
NELQMEEYLK QKLQDEAYQV SLQG*
speed 0.66 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: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM013914)
  • known disease mutation: rs8306 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:32374214C>TN/A show variant in all transcripts   IGV
HGNC symbol DTNA
Ensembl transcript ID ENST00000269191
Genbank transcript ID NM_001391
UniProt peptide Q9Y4J8
alteration type single base exchange
alteration region CDS
DNA changes c.362C>T
cDNA.363C>T
g.300961C>T
AA changes P121L Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 121
frameshift no
known variant Reference ID: rs104894654
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs8306 (pathogenic for Left ventricular noncompaction 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)

known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)
known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H2AZ, Histone, Histone 2A variant Z
phyloP / phastCons
PhyloPPhastCons
(flanking)2.5641
1.9931
(flanking)5.7741
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost300960sequence motif lost- wt: ATCC|gtaa
 mu: ATCT.gtaa
Acc increased300951wt: 0.42 / mu: 0.47wt: TCCTTAACTTCCTGCTTGCAGCGTTTGATCCGTAAGCACCC
mu: TCCTTAACTTCCTGCTTGCAGCGTTTGATCTGTAAGCACCC		 gcag|CGTT
Acc marginally increased300952wt: 0.4615 / mu: 0.4882 (marginal change - not scored)wt: CCTTAACTTCCTGCTTGCAGCGTTTGATCCGTAAGCACCCT
mu: CCTTAACTTCCTGCTTGCAGCGTTTGATCTGTAAGCACCCT		 cagc|GTTT
Donor decreased300960wt: 0.72 / mu: 0.23wt: TTGATCCGTAAGCAC
mu: TTGATCTGTAAGCAC		 GATC|cgta
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      121LLLNFLLAAFDPEGHGKISVFAVK
mutated  not conserved    121LEGHGKISVFAV
Ptroglodytes  all identical  ENSPTRG00000009964  121PEGHGKISVFAV
Mmulatta  all identical  ENSMMUG00000003302  121PEGHGKISVFAV
Fcatus  no alignment  ENSFCAG00000011492  n/a
Mmusculus  all identical  ENSMUSG00000024302  121PEGHGKISVFAV
Ggallus  all identical  ENSGALG00000015211  121PEGHGKISVFAV
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000031015  121QEGVGKISAFVM
Dmelanogaster  not conserved  FBgn0033739  112LLLNWLLAAYTSDNSGKIRVFSI
Celegans  not conserved  F47G6.1  142LLLAFLLGAYDKQNTGRLTVFSI
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1288REGIONInteraction with MAGEE1 (By similarity).lost
182182CONFLICTF -> L (in Ref. 1; AAC50426 and 2; AAB58541/AAB58542/AAB58543).might get lost (downstream of altered splice site)
237284ZN_FINGZZ-type.might get lost (downstream of altered splice site)
244246STRANDmight get lost (downstream of altered splice site)
255260STRANDmight get lost (downstream of altered splice site)
268273HELIXmight get lost (downstream of altered splice site)
278280STRANDmight get lost (downstream of altered splice site)
286289STRANDmight get lost (downstream of altered splice site)
314314CONFLICTE -> K (in Ref. 1; AAC50430).might get lost (downstream of altered splice site)
400450REGIONSyntrophin-binding region.might get lost (downstream of altered splice site)
461556COILEDPotential.might get lost (downstream of altered splice site)
558559CONFLICTAG -> GV (in Ref. 1; AAC50431).might get lost (downstream of altered splice site)
558561CONFLICTAGSP -> SGTH (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
565565CONFLICTP -> R (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
568568CONFLICTT -> S (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
662662MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
689689CONFLICTT -> S (in Ref. 1; AAC50429).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1713 / 1713
position (AA) of stopcodon in wt / mu AA sequence 571 / 571
position of stopcodon in wt / mu cDNA 1714 / 1714
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 2 / 2
chromosome 18
strand 1
last intron/exon boundary 1664
theoretical NMD boundary in CDS 1612
length of CDS 1713
coding sequence (CDS) position 362
cDNA position
(for ins/del: last normal base / first normal base)		 363
gDNA position
(for ins/del: last normal base / first normal base)		 300961
chromosomal position
(for ins/del: last normal base / first normal base)		 32374214
original gDNA sequence snippet CCTGCTTGCAGCGTTTGATCCGTAAGCACCCTCTGAATGTC
altered gDNA sequence snippet CCTGCTTGCAGCGTTTGATCTGTAAGCACCCTCTGAATGTC
original cDNA sequence snippet CCTGCTTGCAGCGTTTGATCCGGAAGGCCATGGTAAAATTT
altered cDNA sequence snippet CCTGCTTGCAGCGTTTGATCTGGAAGGCCATGGTAAAATTT
wildtype AA sequence MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE
ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD
PEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA
VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP
VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT
NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVDTWPPR PVTSMNDTLF SHSVPSSGSP
FITRSSPPKD SEVEQNKLLA RAAPAFLKGK GIQYSLNVAD RLADEHVLIG LYVNMLRNNP
SCMLESSNRL DEEHRLIARY AARLAAESSS SQPPQQRSAP DISFTIDANK QQRQLIAELE
NKNREILQEI QRLRLEHEQA SQPTPEKAQQ NPTLLAELRL LRQRKDELEQ RMSALQESRR
ELMVQLEGLM KLLKEEELKQ GVSYVPYCRS *
mutated AA sequence MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE
ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD
LEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA
VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP
VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT
NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVDTWPPR PVTSMNDTLF SHSVPSSGSP
FITRSSPPKD SEVEQNKLLA RAAPAFLKGK GIQYSLNVAD RLADEHVLIG LYVNMLRNNP
SCMLESSNRL DEEHRLIARY AARLAAESSS SQPPQQRSAP DISFTIDANK QQRQLIAELE
NKNREILQEI QRLRLEHEQA SQPTPEKAQQ NPTLLAELRL LRQRKDELEQ RMSALQESRR
ELMVQLEGLM KLLKEEELKQ GVSYVPYCRS *
speed 0.72 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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Problems