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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000361874
Querying Taster for transcript #2: ENST00000409240
Querying Taster for transcript #3: ENST00000409868
Querying Taster for transcript #4: ENST00000409567
Querying Taster for transcript #5: ENST00000394003
MT speed 0 s - this script 4.853943 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
DCTN1disease_causing_automatic0.999999958960215simple_aaeaffected0G54Rsingle base exchangers72466485show file
DCTN1disease_causing_automatic0.999999958960215simple_aaeaffected0G71Rsingle base exchangers72466485show file
DCTN1disease_causing_automatic0.999999958960215simple_aaeaffected0G54Rsingle base exchangers72466485show file
DCTN1disease_causing_automatic0.999999958960215simple_aaeaffected0G71Rsingle base exchangers72466485show file
DCTN1disease_causing_automatic0.999999958960215simple_aaeaffected0G71Rsingle base exchangers72466485show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999958960215 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM090396)
  • known disease mutation: rs8406 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:74605195C>TN/A show variant in all transcripts   IGV
HGNC symbol DCTN1
Ensembl transcript ID ENST00000409240
Genbank transcript ID NM_001190836
UniProt peptide Q14203
alteration type single base exchange
alteration region CDS
DNA changes c.160G>A
cDNA.472G>A
g.14020G>A
AA changes G54R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 54
frameshift no
known variant Reference ID: rs72466485
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8406 (pathogenic for Perry syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM090396)

known disease mutation at this position, please check HGMD for details (HGMD ID CM090396)
known disease mutation at this position, please check HGMD for details (HGMD ID CM090396)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.6981
3.0591
(flanking)0.541
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased14018wt: 0.78 / mu: 0.92wt: AAATGATGGAACTGT
mu: AAATGATAGAACTGT		 ATGA|tgga
Donor gained140160.49mu: AAAAATGATAGAACT AAAT|gata
distance from splice site 69
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      54VILDEAKGKNDGTVQGRKYFTCDE
mutated  not conserved    54VILDEAKGKNDRTVQGRK
Ptroglodytes  all identical  ENSPTRG00000030450  71VILDEAKGKNDGTVQGRK
Mmulatta  all identical  ENSMMUG00000015610  54VILDEAKGKNDGTVQGRK
Fcatus  not conserved  ENSFCAG00000008616  1138FLRAKEEQQDDTVYMGKVTFSCA
Mmusculus  all identical  ENSMUSG00000031865  71VILDEAKGKNDGTVQGRK
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000017631  70VILDEAKGKNDGTV-GKR
Drerio  all identical  ENSDARG00000019743  54VILDEAKGKNDGTVQGKR
Dmelanogaster  all identical  FBgn0001108  50VVLDEPKGKNSGSIKGQQYFQCD
Celegans  no alignment  ZK593.5  n/a
Xtropicalis  all identical  ENSXETG00000011761  78VILDDSKGKNDGTVQGRR
protein features
start (aa)end (aa)featuredetails 
4890DOMAINCAP-Gly.lost
5155STRANDlost
5765STRANDmight get lost (downstream of altered splice site)
6773STRANDmight get lost (downstream of altered splice site)
6868MUTAGENK->A: Abolishes interaction with CLIP1.might get lost (downstream of altered splice site)
7678STRANDmight get lost (downstream of altered splice site)
8385TURNmight get lost (downstream of altered splice site)
8689STRANDmight get lost (downstream of altered splice site)
9090MUTAGENR->E: Abolishes interaction with CLIP1.might get lost (downstream of altered splice site)
9193HELIXmight get lost (downstream of altered splice site)
9496STRANDmight get lost (downstream of altered splice site)
105105MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
108108MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
132138CONFLICTMissing (in Ref. 2; no nucleotide entry and 4; CAA67333).might get lost (downstream of altered splice site)
164191COMPBIASSer-rich.might get lost (downstream of altered splice site)
213547COILEDPotential.might get lost (downstream of altered splice site)
230230MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
541541MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
712712CONFLICTD -> V (in Ref. 2; no nucleotide entry and 4; CAA67333).might get lost (downstream of altered splice site)
9431049COILEDPotential.might get lost (downstream of altered splice site)
10811081CONFLICTV -> M (in Ref. 6; AAP35404).might get lost (downstream of altered splice site)
11821211COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3711 / 3711
position (AA) of stopcodon in wt / mu AA sequence 1237 / 1237
position of stopcodon in wt / mu cDNA 4023 / 4023
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 313 / 313
chromosome 2
strand -1
last intron/exon boundary 3886
theoretical NMD boundary in CDS 3523
length of CDS 3711
coding sequence (CDS) position 160
cDNA position
(for ins/del: last normal base / first normal base)		 472
gDNA position
(for ins/del: last normal base / first normal base)		 14020
chromosomal position
(for ins/del: last normal base / first normal base)		 74605195
original gDNA sequence snippet AAGCAAAGGGCAAAAATGATGGAACTGTTCAAGGCAGGAAG
altered gDNA sequence snippet AAGCAAAGGGCAAAAATGATAGAACTGTTCAAGGCAGGAAG
original cDNA sequence snippet AAGCAAAGGGCAAAAATGATGGAACTGTTCAAGGCAGGAAG
altered cDNA sequence snippet AAGCAAAGGGCAAAAATGATAGAACTGTTCAAGGCAGGAAG
wildtype AA sequence MSAEASARPL RVGSRVEVIG KGHRGTVAYV GATLFATGKW VGVILDEAKG KNDGTVQGRK
YFTCDEGHGI FVRQSQIQVF EDGADTTSPE TPDSSASKVL KREGTDTTAK TSKLPTRPAS
TGVAGASSSL GPSGSASAGE LSSSEPSTPA QTPLAAPIIP TPVLTSPGAV PPLPSPSKEE
EGLRAQVRDL EEKLETLRLK RAEDKAKLKE LEKHKIQLEQ VQEWKSKMQE QQADLQRRLK
EARKEAKEAL EAKERYMEEM ADTADAIEMA TLDKEMAEER AESLQQEVEA LKERVDELTT
DLEILKAEIE EKGSDGAASS YQLKQLEEQN ARLKDALVRM RDLSSSEKQE HVKLQKLMEK
KNQELEVVRQ QRERLQEELS QAESTIDELK EQVDAALGAE EMVEMLTDRN LNLEEKVREL
RETVGDLEAM NEMNDELQEN ARETELELRE QLDMAGARVR EAQKRVEAAQ ETVADYQQTI
KKYRQLTAHL QDVNRELTNQ QEASVERQQQ PPPETFDFKI KFAETKAHAK AIEMELRQME
VAQANRHMSL LTAFMPDSFL RPGGDHDCVL VLLLMPRLIC KAELIRKQAQ EKFELSENCS
ERPGLRGAAG EQLSFAAGLV YSLSLLQATL HRYEHALSQC SVDVYKKVGS LYPEMSAHER
SLDFLIELLH KDQLDETVNV EPLTKAIKYY QHLYSIHLAE QPEDCTMQLA DHIKFTQSAL
DCMSVEVGRL RAFLQGGQEA TDIALLLRDL ETSCSDIRQF CKKIRRRMPG TDAPGIPAAL
AFGPQVSDTL LDCRKHLTWV VAVLQEVAAA AAQLIAPLAE NEGLLVAALE ELAFKASEQI
YGTPSSSPYE CLRQSCNILI STMNKLATAM QEGEYDAERP PSKPPPVELR AAALRAEITD
AEGLGLKLED RETVIKELKK SLKIKGEELS EANVRLSLLE KKLDSAAKDA DERIEKVQTR
LEETQALLRK KEKEFEETMD ALQADIDQLE AEKAELKQRL NSQSKRTIEG LRGPPPSGIA
TLVSGIAGGA IPGQAPGSVP GPGLVKDSPL LLQQISAMRL HISQLQHENS ILKGAQMKAS
LASLPPLHVA KLSHEGPGSE LPAGALYRKT SQLLETLNQL STHTHVVDIT RTSPAAKSPS
AQLMEQVAQL KSLSDTVEKL KDEVLKETVS QRPGATVPTD FATFPSSAFL RAKEEQQDDT
VYMGKVTFSC AAGFGQRHRL VLTQEQLHQL HSRLIS*
mutated AA sequence MSAEASARPL RVGSRVEVIG KGHRGTVAYV GATLFATGKW VGVILDEAKG KNDRTVQGRK
YFTCDEGHGI FVRQSQIQVF EDGADTTSPE TPDSSASKVL KREGTDTTAK TSKLPTRPAS
TGVAGASSSL GPSGSASAGE LSSSEPSTPA QTPLAAPIIP TPVLTSPGAV PPLPSPSKEE
EGLRAQVRDL EEKLETLRLK RAEDKAKLKE LEKHKIQLEQ VQEWKSKMQE QQADLQRRLK
EARKEAKEAL EAKERYMEEM ADTADAIEMA TLDKEMAEER AESLQQEVEA LKERVDELTT
DLEILKAEIE EKGSDGAASS YQLKQLEEQN ARLKDALVRM RDLSSSEKQE HVKLQKLMEK
KNQELEVVRQ QRERLQEELS QAESTIDELK EQVDAALGAE EMVEMLTDRN LNLEEKVREL
RETVGDLEAM NEMNDELQEN ARETELELRE QLDMAGARVR EAQKRVEAAQ ETVADYQQTI
KKYRQLTAHL QDVNRELTNQ QEASVERQQQ PPPETFDFKI KFAETKAHAK AIEMELRQME
VAQANRHMSL LTAFMPDSFL RPGGDHDCVL VLLLMPRLIC KAELIRKQAQ EKFELSENCS
ERPGLRGAAG EQLSFAAGLV YSLSLLQATL HRYEHALSQC SVDVYKKVGS LYPEMSAHER
SLDFLIELLH KDQLDETVNV EPLTKAIKYY QHLYSIHLAE QPEDCTMQLA DHIKFTQSAL
DCMSVEVGRL RAFLQGGQEA TDIALLLRDL ETSCSDIRQF CKKIRRRMPG TDAPGIPAAL
AFGPQVSDTL LDCRKHLTWV VAVLQEVAAA AAQLIAPLAE NEGLLVAALE ELAFKASEQI
YGTPSSSPYE CLRQSCNILI STMNKLATAM QEGEYDAERP PSKPPPVELR AAALRAEITD
AEGLGLKLED RETVIKELKK SLKIKGEELS EANVRLSLLE KKLDSAAKDA DERIEKVQTR
LEETQALLRK KEKEFEETMD ALQADIDQLE AEKAELKQRL NSQSKRTIEG LRGPPPSGIA
TLVSGIAGGA IPGQAPGSVP GPGLVKDSPL LLQQISAMRL HISQLQHENS ILKGAQMKAS
LASLPPLHVA KLSHEGPGSE LPAGALYRKT SQLLETLNQL STHTHVVDIT RTSPAAKSPS
AQLMEQVAQL KSLSDTVEKL KDEVLKETVS QRPGATVPTD FATFPSSAFL RAKEEQQDDT
VYMGKVTFSC AAGFGQRHRL VLTQEQLHQL HSRLIS*
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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999958960215 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM090396)
  • known disease mutation: rs8406 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:74605195C>TN/A show variant in all transcripts   IGV
HGNC symbol DCTN1
Ensembl transcript ID ENST00000361874
Genbank transcript ID NM_004082
UniProt peptide Q14203
alteration type single base exchange
alteration region CDS
DNA changes c.211G>A
cDNA.529G>A
g.14020G>A
AA changes G71R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 71
frameshift no
known variant Reference ID: rs72466485
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8406 (pathogenic for Perry syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM090396)

known disease mutation at this position, please check HGMD for details (HGMD ID CM090396)
known disease mutation at this position, please check HGMD for details (HGMD ID CM090396)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.6981
3.0591
(flanking)0.541
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased14018wt: 0.78 / mu: 0.92wt: AAATGATGGAACTGT
mu: AAATGATAGAACTGT		 ATGA|tgga
Donor gained140160.49mu: AAAAATGATAGAACT AAAT|gata
distance from splice site 69
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      71VILDEAKGKNDGTVQGRKYFTCDE
mutated  not conserved    71ILDEAKGKNDRTVQGRKYFTCD
Ptroglodytes  all identical  ENSPTRG00000030450  71ILDEAKGKNDGTVQGRKYFTCD
Mmulatta  all identical  ENSMMUG00000015610  54VILDEAKGKNDGTVQGRK
Fcatus  not conserved  ENSFCAG00000008616  1138FLRAKEEQQDDTVYMGKVTFSCA
Mmusculus  all identical  ENSMUSG00000031865  71ILDEAKGKNDGTVQGRKYFTCD
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000017631  69ILDEAKGKNDGTV-GKRYFTCE
Drerio  all identical  ENSDARG00000019743  54VILDEAKGKNDGTVQGKR
Dmelanogaster  all identical  FBgn0001108  50VVLDEPKGKNSGSIKGQQYFQCD
Celegans  no alignment  ZK593.5  n/a
Xtropicalis  all identical  ENSXETG00000011761  78DDSKGKNDGTVQGRRYFTCE
protein features
start (aa)end (aa)featuredetails 
4890DOMAINCAP-Gly.lost
6773STRANDlost
7678STRANDmight get lost (downstream of altered splice site)
8385TURNmight get lost (downstream of altered splice site)
8689STRANDmight get lost (downstream of altered splice site)
9090MUTAGENR->E: Abolishes interaction with CLIP1.might get lost (downstream of altered splice site)
9193HELIXmight get lost (downstream of altered splice site)
9496STRANDmight get lost (downstream of altered splice site)
105105MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
108108MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
132138CONFLICTMissing (in Ref. 2; no nucleotide entry and 4; CAA67333).might get lost (downstream of altered splice site)
164191COMPBIASSer-rich.might get lost (downstream of altered splice site)
213547COILEDPotential.might get lost (downstream of altered splice site)
230230MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
541541MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
712712CONFLICTD -> V (in Ref. 2; no nucleotide entry and 4; CAA67333).might get lost (downstream of altered splice site)
9431049COILEDPotential.might get lost (downstream of altered splice site)
10811081CONFLICTV -> M (in Ref. 6; AAP35404).might get lost (downstream of altered splice site)
11821211COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3837 / 3837
position (AA) of stopcodon in wt / mu AA sequence 1279 / 1279
position of stopcodon in wt / mu cDNA 4155 / 4155
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 319 / 319
chromosome 2
strand -1
last intron/exon boundary 4018
theoretical NMD boundary in CDS 3649
length of CDS 3837
coding sequence (CDS) position 211
cDNA position
(for ins/del: last normal base / first normal base)		 529
gDNA position
(for ins/del: last normal base / first normal base)		 14020
chromosomal position
(for ins/del: last normal base / first normal base)		 74605195
original gDNA sequence snippet AAGCAAAGGGCAAAAATGATGGAACTGTTCAAGGCAGGAAG
altered gDNA sequence snippet AAGCAAAGGGCAAAAATGATAGAACTGTTCAAGGCAGGAAG
original cDNA sequence snippet AAGCAAAGGGCAAAAATGATGGAACTGTTCAAGGCAGGAAG
altered cDNA sequence snippet AAGCAAAGGGCAAAAATGATAGAACTGTTCAAGGCAGGAAG
wildtype AA sequence MAQSKRHVYS RTPSGSRMSA EASARPLRVG SRVEVIGKGH RGTVAYVGAT LFATGKWVGV
ILDEAKGKND GTVQGRKYFT CDEGHGIFVR QSQIQVFEDG ADTTSPETPD SSASKVLKRE
GTDTTAKTSK LRGLKPKKAP TARKTTTRRP KPTRPASTGV AGASSSLGPS GSASAGELSS
SEPSTPAQTP LAAPIIPTPV LTSPGAVPPL PSPSKEEEGL RAQVRDLEEK LETLRLKRAE
DKAKLKELEK HKIQLEQVQE WKSKMQEQQA DLQRRLKEAR KEAKEALEAK ERYMEEMADT
ADAIEMATLD KEMAEERAES LQQEVEALKE RVDELTTDLE ILKAEIEEKG SDGAASSYQL
KQLEEQNARL KDALVRMRDL SSSEKQEHVK LQKLMEKKNQ ELEVVRQQRE RLQEELSQAE
STIDELKEQV DAALGAEEMV EMLTDRNLNL EEKVRELRET VGDLEAMNEM NDELQENARE
TELELREQLD MAGARVREAQ KRVEAAQETV ADYQQTIKKY RQLTAHLQDV NRELTNQQEA
SVERQQQPPP ETFDFKIKFA ETKAHAKAIE MELRQMEVAQ ANRHMSLLTA FMPDSFLRPG
GDHDCVLVLL LMPRLICKAE LIRKQAQEKF ELSENCSERP GLRGAAGEQL SFAAGLVYSL
SLLQATLHRY EHALSQCSVD VYKKVGSLYP EMSAHERSLD FLIELLHKDQ LDETVNVEPL
TKAIKYYQHL YSIHLAEQPE DCTMQLADHI KFTQSALDCM SVEVGRLRAF LQGGQEATDI
ALLLRDLETS CSDIRQFCKK IRRRMPGTDA PGIPAALAFG PQVSDTLLDC RKHLTWVVAV
LQEVAAAAAQ LIAPLAENEG LLVAALEELA FKASEQIYGT PSSSPYECLR QSCNILISTM
NKLATAMQEG EYDAERPPSK PPPVELRAAA LRAEITDAEG LGLKLEDRET VIKELKKSLK
IKGEELSEAN VRLSLLEKKL DSAAKDADER IEKVQTRLEE TQALLRKKEK EFEETMDALQ
ADIDQLEAEK AELKQRLNSQ SKRTIEGLRG PPPSGIATLV SGIAGEEQQR GAIPGQAPGS
VPGPGLVKDS PLLLQQISAM RLHISQLQHE NSILKGAQMK ASLASLPPLH VAKLSHEGPG
SELPAGALYR KTSQLLETLN QLSTHTHVVD ITRTSPAAKS PSAQLMEQVA QLKSLSDTVE
KLKDEVLKET VSQRPGATVP TDFATFPSSA FLRAKEEQQD DTVYMGKVTF SCAAGFGQRH
RLVLTQEQLH QLHSRLIS*
mutated AA sequence MAQSKRHVYS RTPSGSRMSA EASARPLRVG SRVEVIGKGH RGTVAYVGAT LFATGKWVGV
ILDEAKGKND RTVQGRKYFT CDEGHGIFVR QSQIQVFEDG ADTTSPETPD SSASKVLKRE
GTDTTAKTSK LRGLKPKKAP TARKTTTRRP KPTRPASTGV AGASSSLGPS GSASAGELSS
SEPSTPAQTP LAAPIIPTPV LTSPGAVPPL PSPSKEEEGL RAQVRDLEEK LETLRLKRAE
DKAKLKELEK HKIQLEQVQE WKSKMQEQQA DLQRRLKEAR KEAKEALEAK ERYMEEMADT
ADAIEMATLD KEMAEERAES LQQEVEALKE RVDELTTDLE ILKAEIEEKG SDGAASSYQL
KQLEEQNARL KDALVRMRDL SSSEKQEHVK LQKLMEKKNQ ELEVVRQQRE RLQEELSQAE
STIDELKEQV DAALGAEEMV EMLTDRNLNL EEKVRELRET VGDLEAMNEM NDELQENARE
TELELREQLD MAGARVREAQ KRVEAAQETV ADYQQTIKKY RQLTAHLQDV NRELTNQQEA
SVERQQQPPP ETFDFKIKFA ETKAHAKAIE MELRQMEVAQ ANRHMSLLTA FMPDSFLRPG
GDHDCVLVLL LMPRLICKAE LIRKQAQEKF ELSENCSERP GLRGAAGEQL SFAAGLVYSL
SLLQATLHRY EHALSQCSVD VYKKVGSLYP EMSAHERSLD FLIELLHKDQ LDETVNVEPL
TKAIKYYQHL YSIHLAEQPE DCTMQLADHI KFTQSALDCM SVEVGRLRAF LQGGQEATDI
ALLLRDLETS CSDIRQFCKK IRRRMPGTDA PGIPAALAFG PQVSDTLLDC RKHLTWVVAV
LQEVAAAAAQ LIAPLAENEG LLVAALEELA FKASEQIYGT PSSSPYECLR QSCNILISTM
NKLATAMQEG EYDAERPPSK PPPVELRAAA LRAEITDAEG LGLKLEDRET VIKELKKSLK
IKGEELSEAN VRLSLLEKKL DSAAKDADER IEKVQTRLEE TQALLRKKEK EFEETMDALQ
ADIDQLEAEK AELKQRLNSQ SKRTIEGLRG PPPSGIATLV SGIAGEEQQR GAIPGQAPGS
VPGPGLVKDS PLLLQQISAM RLHISQLQHE NSILKGAQMK ASLASLPPLH VAKLSHEGPG
SELPAGALYR KTSQLLETLN QLSTHTHVVD ITRTSPAAKS PSAQLMEQVA QLKSLSDTVE
KLKDEVLKET VSQRPGATVP TDFATFPSSA FLRAKEEQQD DTVYMGKVTF SCAAGFGQRH
RLVLTQEQLH QLHSRLIS*
speed 0.98 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999958960215 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM090396)
  • known disease mutation: rs8406 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:74605195C>TN/A show variant in all transcripts   IGV
HGNC symbol DCTN1
Ensembl transcript ID ENST00000409868
Genbank transcript ID N/A
UniProt peptide Q14203
alteration type single base exchange
alteration region CDS
DNA changes c.160G>A
cDNA.250G>A
g.14020G>A
AA changes G54R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 54
frameshift no
known variant Reference ID: rs72466485
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8406 (pathogenic for Perry syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM090396)

known disease mutation at this position, please check HGMD for details (HGMD ID CM090396)
known disease mutation at this position, please check HGMD for details (HGMD ID CM090396)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.6981
3.0591
(flanking)0.541
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased14018wt: 0.78 / mu: 0.92wt: AAATGATGGAACTGT
mu: AAATGATAGAACTGT		 ATGA|tgga
Donor gained140160.49mu: AAAAATGATAGAACT AAAT|gata
distance from splice site 69
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      54VILDEAKGKNDGTVQGRKYFTCDE
mutated  not conserved    54VILDEAKGKNDRTVQGRK
Ptroglodytes  all identical  ENSPTRG00000030450  71VILDEAKGKNDGTVQGRK
Mmulatta  all identical  ENSMMUG00000015610  54VILDEAKGKNDGTVQGRK
Fcatus  not conserved  ENSFCAG00000008616  1138FLRAKEEQQDDTVYMGKVTFSCA
Mmusculus  all identical  ENSMUSG00000031865  71VILDEAKGKNDGTVQGRK
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000017631  70VILDEAKGKNDGTV-GKR
Drerio  all identical  ENSDARG00000019743  54VILDEAKGKNDGTVQGKR
Dmelanogaster  all identical  FBgn0001108  50VVLDEPKGKNSGSIKGQQYFQCD
Celegans  no alignment  ZK593.5  n/a
Xtropicalis  all identical  ENSXETG00000011761  78VILDDSKGKNDGTVQGRR
protein features
start (aa)end (aa)featuredetails 
4890DOMAINCAP-Gly.lost
5155STRANDlost
5765STRANDmight get lost (downstream of altered splice site)
6773STRANDmight get lost (downstream of altered splice site)
6868MUTAGENK->A: Abolishes interaction with CLIP1.might get lost (downstream of altered splice site)
7678STRANDmight get lost (downstream of altered splice site)
8385TURNmight get lost (downstream of altered splice site)
8689STRANDmight get lost (downstream of altered splice site)
9090MUTAGENR->E: Abolishes interaction with CLIP1.might get lost (downstream of altered splice site)
9193HELIXmight get lost (downstream of altered splice site)
9496STRANDmight get lost (downstream of altered splice site)
105105MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
108108MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
132138CONFLICTMissing (in Ref. 2; no nucleotide entry and 4; CAA67333).might get lost (downstream of altered splice site)
164191COMPBIASSer-rich.might get lost (downstream of altered splice site)
213547COILEDPotential.might get lost (downstream of altered splice site)
230230MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
541541MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
712712CONFLICTD -> V (in Ref. 2; no nucleotide entry and 4; CAA67333).might get lost (downstream of altered splice site)
9431049COILEDPotential.might get lost (downstream of altered splice site)
10811081CONFLICTV -> M (in Ref. 6; AAP35404).might get lost (downstream of altered splice site)
11821211COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3771 / 3771
position (AA) of stopcodon in wt / mu AA sequence 1257 / 1257
position of stopcodon in wt / mu cDNA 3861 / 3861
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 91 / 91
chromosome 2
strand -1
last intron/exon boundary 3724
theoretical NMD boundary in CDS 3583
length of CDS 3771
coding sequence (CDS) position 160
cDNA position
(for ins/del: last normal base / first normal base)		 250
gDNA position
(for ins/del: last normal base / first normal base)		 14020
chromosomal position
(for ins/del: last normal base / first normal base)		 74605195
original gDNA sequence snippet AAGCAAAGGGCAAAAATGATGGAACTGTTCAAGGCAGGAAG
altered gDNA sequence snippet AAGCAAAGGGCAAAAATGATAGAACTGTTCAAGGCAGGAAG
original cDNA sequence snippet AAGCAAAGGGCAAAAATGATGGAACTGTTCAAGGCAGGAAG
altered cDNA sequence snippet AAGCAAAGGGCAAAAATGATAGAACTGTTCAAGGCAGGAAG
wildtype AA sequence MSAEASARPL RVGSRVEVIG KGHRGTVAYV GATLFATGKW VGVILDEAKG KNDGTVQGRK
YFTCDEGHGI FVRQSQIQVF EDGADTTSPE TPDSSASKVL KREGTDTTAK TSKLRGLKPK
KAPTARKTTT RRPKPTRPAS TGVAGASSSL GPSGSASAGE LSSSEPSTPA QTPLAAPIIP
TPVLTSPGAV PPLPSPSKEE EGLRAQVRDL EEKLETLRLK RAEDKAKLKE LEKHKIQLEQ
VQEWKSKMQE QQADLQRRLK EARKEAKEAL EAKERYMEEM ADTADAIEMA TLDKEMAEER
AESLQQEVEA LKERVDELTT DLEILKAEIE EKGSDGAASS YQLKQLEEQN ARLKDALVRM
RDLSSSEKQE HVKLQKLMEK KNQELEVVRQ QRERLQEELS QAESTIDELK EQVDAALGAE
EMVEMLTDRN LNLEEKVREL RETVGDLEAM NEMNDELQEN ARETELELRE QLDMAGARVR
EAQKRVEAAQ ETVADYQQTI KKYRQLTAHL QDVNRELTNQ QEASVERQQQ PPPETFDFKI
KFAETKAHAK AIEMELRQME VAQANRHMSL LTAFMPDSFL RPGGDHDCVL VLLLMPRLIC
KAELIRKQAQ EKFELSENCS ERPGLRGAAG EQLSFAAGLV YSLSLLQATL HRYEHALSQC
SVDVYKKVGS LYPEMSAHER SLDFLIELLH KDQLDETVNV EPLTKAIKYY QHLYSIHLAE
QPEDCTMQLA DHIKFTQSAL DCMSVEVGRL RAFLQGGQEA TDIALLLRDL ETSCSDIRQF
CKKIRRRMPG TDAPGIPAAL AFGPQVSDTL LDCRKHLTWV VAVLQEVAAA AAQLIAPLAE
NEGLLVAALE ELAFKASEQI YGTPSSSPYE CLRQSCNILI STMNKLATAM QEGEYDAERP
PSKPPPVELR AAALRAEITD AEGLGLKLED RETVIKELKK SLKIKGEELS EANVRLSLLE
KKLDSAAKDA DERIEKVQTR LEETQALLRK KEKEFEETMD ALQADIDQLE AEKAELKQRL
NSQSKRTIEG LRGPPPSGIA TLVSGIAGGA IPGQAPGSVP GPGLVKDSPL LLQQISAMRL
HISQLQHENS ILKGAQMKAS LASLPPLHVA KLSHEGPGSE LPAGALYRKT SQLLETLNQL
STHTHVVDIT RTSPAAKSPS AQLMEQVAQL KSLSDTVEKL KDEVLKETVS QRPGATVPTD
FATFPSSAFL RAKEEQQDDT VYMGKVTFSC AAGFGQRHRL VLTQEQLHQL HSRLIS*
mutated AA sequence MSAEASARPL RVGSRVEVIG KGHRGTVAYV GATLFATGKW VGVILDEAKG KNDRTVQGRK
YFTCDEGHGI FVRQSQIQVF EDGADTTSPE TPDSSASKVL KREGTDTTAK TSKLRGLKPK
KAPTARKTTT RRPKPTRPAS TGVAGASSSL GPSGSASAGE LSSSEPSTPA QTPLAAPIIP
TPVLTSPGAV PPLPSPSKEE EGLRAQVRDL EEKLETLRLK RAEDKAKLKE LEKHKIQLEQ
VQEWKSKMQE QQADLQRRLK EARKEAKEAL EAKERYMEEM ADTADAIEMA TLDKEMAEER
AESLQQEVEA LKERVDELTT DLEILKAEIE EKGSDGAASS YQLKQLEEQN ARLKDALVRM
RDLSSSEKQE HVKLQKLMEK KNQELEVVRQ QRERLQEELS QAESTIDELK EQVDAALGAE
EMVEMLTDRN LNLEEKVREL RETVGDLEAM NEMNDELQEN ARETELELRE QLDMAGARVR
EAQKRVEAAQ ETVADYQQTI KKYRQLTAHL QDVNRELTNQ QEASVERQQQ PPPETFDFKI
KFAETKAHAK AIEMELRQME VAQANRHMSL LTAFMPDSFL RPGGDHDCVL VLLLMPRLIC
KAELIRKQAQ EKFELSENCS ERPGLRGAAG EQLSFAAGLV YSLSLLQATL HRYEHALSQC
SVDVYKKVGS LYPEMSAHER SLDFLIELLH KDQLDETVNV EPLTKAIKYY QHLYSIHLAE
QPEDCTMQLA DHIKFTQSAL DCMSVEVGRL RAFLQGGQEA TDIALLLRDL ETSCSDIRQF
CKKIRRRMPG TDAPGIPAAL AFGPQVSDTL LDCRKHLTWV VAVLQEVAAA AAQLIAPLAE
NEGLLVAALE ELAFKASEQI YGTPSSSPYE CLRQSCNILI STMNKLATAM QEGEYDAERP
PSKPPPVELR AAALRAEITD AEGLGLKLED RETVIKELKK SLKIKGEELS EANVRLSLLE
KKLDSAAKDA DERIEKVQTR LEETQALLRK KEKEFEETMD ALQADIDQLE AEKAELKQRL
NSQSKRTIEG LRGPPPSGIA TLVSGIAGGA IPGQAPGSVP GPGLVKDSPL LLQQISAMRL
HISQLQHENS ILKGAQMKAS LASLPPLHVA KLSHEGPGSE LPAGALYRKT SQLLETLNQL
STHTHVVDIT RTSPAAKSPS AQLMEQVAQL KSLSDTVEKL KDEVLKETVS QRPGATVPTD
FATFPSSAFL RAKEEQQDDT VYMGKVTFSC AAGFGQRHRL VLTQEQLHQL HSRLIS*
speed 0.97 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999958960215 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM090396)
  • known disease mutation: rs8406 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:74605195C>TN/A show variant in all transcripts   IGV
HGNC symbol DCTN1
Ensembl transcript ID ENST00000409567
Genbank transcript ID NM_001135040
UniProt peptide Q14203
alteration type single base exchange
alteration region CDS
DNA changes c.211G>A
cDNA.473G>A
g.14020G>A
AA changes G71R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 71
frameshift no
known variant Reference ID: rs72466485
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8406 (pathogenic for Perry syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM090396)

known disease mutation at this position, please check HGMD for details (HGMD ID CM090396)
known disease mutation at this position, please check HGMD for details (HGMD ID CM090396)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.6981
3.0591
(flanking)0.541
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased14018wt: 0.78 / mu: 0.92wt: AAATGATGGAACTGT
mu: AAATGATAGAACTGT		 ATGA|tgga
Donor gained140160.49mu: AAAAATGATAGAACT AAAT|gata
distance from splice site 69
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      71VILDEAKGKNDGTVQGRKYFTCDE
mutated  not conserved    71ILDEAKGKNDRTVQGRKYFTCD
Ptroglodytes  all identical  ENSPTRG00000030450  71ILDEAKGKNDGTVQGRKYFTCD
Mmulatta  all identical  ENSMMUG00000015610  54VILDEAKGKNDGTVQGRK
Fcatus  not conserved  ENSFCAG00000008616  1138FLRAKEEQQDDTVYMGKVTFSCA
Mmusculus  all identical  ENSMUSG00000031865  71ILDEAKGKNDGTVQGRKYFTCD
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000017631  69ILDEAKGKNDGTV-GKRYFTCE
Drerio  all identical  ENSDARG00000019743  54VILDEAKGKNDGTVQGKR
Dmelanogaster  all identical  FBgn0001108  50VVLDEPKGKNSGSIKGQQYFQCD
Celegans  no alignment  ZK593.5  n/a
Xtropicalis  all identical  ENSXETG00000011761  78DDSKGKNDGTVQGRRYFTCE
protein features
start (aa)end (aa)featuredetails 
4890DOMAINCAP-Gly.lost
6773STRANDlost
7678STRANDmight get lost (downstream of altered splice site)
8385TURNmight get lost (downstream of altered splice site)
8689STRANDmight get lost (downstream of altered splice site)
9090MUTAGENR->E: Abolishes interaction with CLIP1.might get lost (downstream of altered splice site)
9193HELIXmight get lost (downstream of altered splice site)
9496STRANDmight get lost (downstream of altered splice site)
105105MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
108108MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
132138CONFLICTMissing (in Ref. 2; no nucleotide entry and 4; CAA67333).might get lost (downstream of altered splice site)
164191COMPBIASSer-rich.might get lost (downstream of altered splice site)
213547COILEDPotential.might get lost (downstream of altered splice site)
230230MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
541541MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
712712CONFLICTD -> V (in Ref. 2; no nucleotide entry and 4; CAA67333).might get lost (downstream of altered splice site)
9431049COILEDPotential.might get lost (downstream of altered splice site)
10811081CONFLICTV -> M (in Ref. 6; AAP35404).might get lost (downstream of altered splice site)
11821211COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3762 / 3762
position (AA) of stopcodon in wt / mu AA sequence 1254 / 1254
position of stopcodon in wt / mu cDNA 4024 / 4024
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 263 / 263
chromosome 2
strand -1
last intron/exon boundary 3887
theoretical NMD boundary in CDS 3574
length of CDS 3762
coding sequence (CDS) position 211
cDNA position
(for ins/del: last normal base / first normal base)		 473
gDNA position
(for ins/del: last normal base / first normal base)		 14020
chromosomal position
(for ins/del: last normal base / first normal base)		 74605195
original gDNA sequence snippet AAGCAAAGGGCAAAAATGATGGAACTGTTCAAGGCAGGAAG
altered gDNA sequence snippet AAGCAAAGGGCAAAAATGATAGAACTGTTCAAGGCAGGAAG
original cDNA sequence snippet AAGCAAAGGGCAAAAATGATGGAACTGTTCAAGGCAGGAAG
altered cDNA sequence snippet AAGCAAAGGGCAAAAATGATAGAACTGTTCAAGGCAGGAAG
wildtype AA sequence MAQSKRHVYS RTPSGSRMSA EASARPLRVG SRVEVIGKGH RGTVAYVGAT LFATGKWVGV
ILDEAKGKND GTVQGRKYFT CDEGHGIFVR QSQIQVFEDG ADTTSPETPD SSASKVLKRE
GTDTTAKTSK LPTRPASTGV AGASSSLGPS GSASAGELSS SEPSTPAQTP LAAPIIPTPV
LTSPGAVPPL PSPSKEEEGL RAQVRDLEEK LETLRLKRAE DKAKLKELEK HKIQLEQVQE
WKSKMQEQQA DLQRRLKEAR KEAKEALEAK ERYMEEMADT ADAIEMATLD KEMAEERAES
LQQEVEALKE RVDELTTDLE ILKAEIEEKG SDGAASSYQL KQLEEQNARL KDALVRMRDL
SSSEKQEHVK LQKLMEKKNQ ELEVVRQQRE RLQEELSQAE STIDELKEQV DAALGAEEMV
EMLTDRNLNL EEKVRELRET VGDLEAMNEM NDELQENARE TELELREQLD MAGARVREAQ
KRVEAAQETV ADYQQTIKKY RQLTAHLQDV NRELTNQQEA SVERQQQPPP ETFDFKIKFA
ETKAHAKAIE MELRQMEVAQ ANRHMSLLTA FMPDSFLRPG GDHDCVLVLL LMPRLICKAE
LIRKQAQEKF ELSENCSERP GLRGAAGEQL SFAAGLVYSL SLLQATLHRY EHALSQCSVD
VYKKVGSLYP EMSAHERSLD FLIELLHKDQ LDETVNVEPL TKAIKYYQHL YSIHLAEQPE
DCTMQLADHI KFTQSALDCM SVEVGRLRAF LQGGQEATDI ALLLRDLETS CSDIRQFCKK
IRRRMPGTDA PGIPAALAFG PQVSDTLLDC RKHLTWVVAV LQEVAAAAAQ LIAPLAENEG
LLVAALEELA FKASEQIYGT PSSSPYECLR QSCNILISTM NKLATAMQEG EYDAERPPSK
PPPVELRAAA LRAEITDAEG LGLKLEDRET VIKELKKSLK IKGEELSEAN VRLSLLEKKL
DSAAKDADER IEKVQTRLEE TQALLRKKEK EFEETMDALQ ADIDQLEAEK AELKQRLNSQ
SKRTIEGLRG PPPSGIATLV SGIAGGAIPG QAPGSVPGPG LVKDSPLLLQ QISAMRLHIS
QLQHENSILK GAQMKASLAS LPPLHVAKLS HEGPGSELPA GALYRKTSQL LETLNQLSTH
THVVDITRTS PAAKSPSAQL MEQVAQLKSL SDTVEKLKDE VLKETVSQRP GATVPTDFAT
FPSSAFLRAK EEQQDDTVYM GKVTFSCAAG FGQRHRLVLT QEQLHQLHSR LIS*
mutated AA sequence MAQSKRHVYS RTPSGSRMSA EASARPLRVG SRVEVIGKGH RGTVAYVGAT LFATGKWVGV
ILDEAKGKND RTVQGRKYFT CDEGHGIFVR QSQIQVFEDG ADTTSPETPD SSASKVLKRE
GTDTTAKTSK LPTRPASTGV AGASSSLGPS GSASAGELSS SEPSTPAQTP LAAPIIPTPV
LTSPGAVPPL PSPSKEEEGL RAQVRDLEEK LETLRLKRAE DKAKLKELEK HKIQLEQVQE
WKSKMQEQQA DLQRRLKEAR KEAKEALEAK ERYMEEMADT ADAIEMATLD KEMAEERAES
LQQEVEALKE RVDELTTDLE ILKAEIEEKG SDGAASSYQL KQLEEQNARL KDALVRMRDL
SSSEKQEHVK LQKLMEKKNQ ELEVVRQQRE RLQEELSQAE STIDELKEQV DAALGAEEMV
EMLTDRNLNL EEKVRELRET VGDLEAMNEM NDELQENARE TELELREQLD MAGARVREAQ
KRVEAAQETV ADYQQTIKKY RQLTAHLQDV NRELTNQQEA SVERQQQPPP ETFDFKIKFA
ETKAHAKAIE MELRQMEVAQ ANRHMSLLTA FMPDSFLRPG GDHDCVLVLL LMPRLICKAE
LIRKQAQEKF ELSENCSERP GLRGAAGEQL SFAAGLVYSL SLLQATLHRY EHALSQCSVD
VYKKVGSLYP EMSAHERSLD FLIELLHKDQ LDETVNVEPL TKAIKYYQHL YSIHLAEQPE
DCTMQLADHI KFTQSALDCM SVEVGRLRAF LQGGQEATDI ALLLRDLETS CSDIRQFCKK
IRRRMPGTDA PGIPAALAFG PQVSDTLLDC RKHLTWVVAV LQEVAAAAAQ LIAPLAENEG
LLVAALEELA FKASEQIYGT PSSSPYECLR QSCNILISTM NKLATAMQEG EYDAERPPSK
PPPVELRAAA LRAEITDAEG LGLKLEDRET VIKELKKSLK IKGEELSEAN VRLSLLEKKL
DSAAKDADER IEKVQTRLEE TQALLRKKEK EFEETMDALQ ADIDQLEAEK AELKQRLNSQ
SKRTIEGLRG PPPSGIATLV SGIAGGAIPG QAPGSVPGPG LVKDSPLLLQ QISAMRLHIS
QLQHENSILK GAQMKASLAS LPPLHVAKLS HEGPGSELPA GALYRKTSQL LETLNQLSTH
THVVDITRTS PAAKSPSAQL MEQVAQLKSL SDTVEKLKDE VLKETVSQRP GATVPTDFAT
FPSSAFLRAK EEQQDDTVYM GKVTFSCAAG FGQRHRLVLT QEQLHQLHSR LIS*
speed 0.65 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: 0.999999958960215 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM090396)
  • known disease mutation: rs8406 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:74605195C>TN/A show variant in all transcripts   IGV
HGNC symbol DCTN1
Ensembl transcript ID ENST00000394003
Genbank transcript ID NM_001190837
UniProt peptide Q14203
alteration type single base exchange
alteration region CDS
DNA changes c.211G>A
cDNA.529G>A
g.14020G>A
AA changes G71R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 71
frameshift no
known variant Reference ID: rs72466485
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8406 (pathogenic for Perry syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM090396)

known disease mutation at this position, please check HGMD for details (HGMD ID CM090396)
known disease mutation at this position, please check HGMD for details (HGMD ID CM090396)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.6981
3.0591
(flanking)0.541
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased14018wt: 0.78 / mu: 0.92wt: AAATGATGGAACTGT
mu: AAATGATAGAACTGT		 ATGA|tgga
Donor gained140160.49mu: AAAAATGATAGAACT AAAT|gata
distance from splice site 69
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      71VILDEAKGKNDGTVQGRKYFTCDE
mutated  not conserved    71ILDEAKGKNDRTVQGRKYFTCD
Ptroglodytes  all identical  ENSPTRG00000030450  71ILDEAKGKNDGTVQGRKYFTCD
Mmulatta  all identical  ENSMMUG00000015610  54VILDEAKGKNDGTVQGRK
Fcatus  not conserved  ENSFCAG00000008616  1138FLRAKEEQQDDTVYMGKVTFSCA
Mmusculus  all identical  ENSMUSG00000031865  71ILDEAKGKNDGTVQGRKYFTCD
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000017631  69ILDEAKGKNDGTV-GKRYFTCE
Drerio  all identical  ENSDARG00000019743  54VILDEAKGKNDGTVQGKR
Dmelanogaster  all identical  FBgn0001108  50VVLDEPKGKNSGSIKGQQYFQCD
Celegans  no alignment  ZK593.5  n/a
Xtropicalis  all identical  ENSXETG00000011761  78DDSKGKNDGTVQGRRYFTCE
protein features
start (aa)end (aa)featuredetails 
4890DOMAINCAP-Gly.lost
6773STRANDlost
7678STRANDmight get lost (downstream of altered splice site)
8385TURNmight get lost (downstream of altered splice site)
8689STRANDmight get lost (downstream of altered splice site)
9090MUTAGENR->E: Abolishes interaction with CLIP1.might get lost (downstream of altered splice site)
9193HELIXmight get lost (downstream of altered splice site)
9496STRANDmight get lost (downstream of altered splice site)
105105MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
108108MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
132138CONFLICTMissing (in Ref. 2; no nucleotide entry and 4; CAA67333).might get lost (downstream of altered splice site)
164191COMPBIASSer-rich.might get lost (downstream of altered splice site)
213547COILEDPotential.might get lost (downstream of altered splice site)
230230MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
541541MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
712712CONFLICTD -> V (in Ref. 2; no nucleotide entry and 4; CAA67333).might get lost (downstream of altered splice site)
9431049COILEDPotential.might get lost (downstream of altered splice site)
10811081CONFLICTV -> M (in Ref. 6; AAP35404).might get lost (downstream of altered splice site)
11821211COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3816 / 3816
position (AA) of stopcodon in wt / mu AA sequence 1272 / 1272
position of stopcodon in wt / mu cDNA 4134 / 4134
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 319 / 319
chromosome 2
strand -1
last intron/exon boundary 3997
theoretical NMD boundary in CDS 3628
length of CDS 3816
coding sequence (CDS) position 211
cDNA position
(for ins/del: last normal base / first normal base)		 529
gDNA position
(for ins/del: last normal base / first normal base)		 14020
chromosomal position
(for ins/del: last normal base / first normal base)		 74605195
original gDNA sequence snippet AAGCAAAGGGCAAAAATGATGGAACTGTTCAAGGCAGGAAG
altered gDNA sequence snippet AAGCAAAGGGCAAAAATGATAGAACTGTTCAAGGCAGGAAG
original cDNA sequence snippet AAGCAAAGGGCAAAAATGATGGAACTGTTCAAGGCAGGAAG
altered cDNA sequence snippet AAGCAAAGGGCAAAAATGATAGAACTGTTCAAGGCAGGAAG
wildtype AA sequence MAQSKRHVYS RTPSGSRMSA EASARPLRVG SRVEVIGKGH RGTVAYVGAT LFATGKWVGV
ILDEAKGKND GTVQGRKYFT CDEGHGIFVR QSQIQVFEDG ADTTSPETPD SSASKVLKRE
GTDTTAKTSK LAPTARKTTT RRPKPTRPAS TGVAGASSSL GPSGSASAGE LSSSEPSTPA
QTPLAAPIIP TPVLTSPGAV PPLPSPSKEE EGLRAQVRDL EEKLETLRLK RAEDKAKLKE
LEKHKIQLEQ VQEWKSKMQE QQADLQRRLK EARKEAKEAL EAKERYMEEM ADTADAIEMA
TLDKEMAEER AESLQQEVEA LKERVDELTT DLEILKAEIE EKGSDGAASS YQLKQLEEQN
ARLKDALVRM RDLSSSEKQE HVKLQKLMEK KNQELEVVRQ QRERLQEELS QAESTIDELK
EQVDAALGAE EMVEMLTDRN LNLEEKVREL RETVGDLEAM NEMNDELQEN ARETELELRE
QLDMAGARVR EAQKRVEAAQ ETVADYQQTI KKYRQLTAHL QDVNRELTNQ QEASVERQQQ
PPPETFDFKI KFAETKAHAK AIEMELRQME VAQANRHMSL LTAFMPDSFL RPGGDHDCVL
VLLLMPRLIC KAELIRKQAQ EKFELSENCS ERPGLRGAAG EQLSFAAGLV YSLSLLQATL
HRYEHALSQC SVDVYKKVGS LYPEMSAHER SLDFLIELLH KDQLDETVNV EPLTKAIKYY
QHLYSIHLAE QPEDCTMQLA DHIKFTQSAL DCMSVEVGRL RAFLQGGQEA TDIALLLRDL
ETSCSDIRQF CKKIRRRMPG TDAPGIPAAL AFGPQVSDTL LDCRKHLTWV VAVLQEVAAA
AAQLIAPLAE NEGLLVAALE ELAFKASEQI YGTPSSSPYE CLRQSCNILI STMNKLATAM
QEGEYDAERP PSKPPPVELR AAALRAEITD AEGLGLKLED RETVIKELKK SLKIKGEELS
EANVRLSLLE KKLDSAAKDA DERIEKVQTR LEETQALLRK KEKEFEETMD ALQADIDQLE
AEKAELKQRL NSQSKRTIEG LRGPPPSGIA TLVSGIAGEE QQRGAIPGQA PGSVPGPGLV
KDSPLLLQQI SAMRLHISQL QHENSILKGA QMKASLASLP PLHVAKLSHE GPGSELPAGA
LYRKTSQLLE TLNQLSTHTH VVDITRTSPA AKSPSAQLME QVAQLKSLSD TVEKLKDEVL
KETVSQRPGA TVPTDFATFP SSAFLRAKEE QQDDTVYMGK VTFSCAAGFG QRHRLVLTQE
QLHQLHSRLI S*
mutated AA sequence MAQSKRHVYS RTPSGSRMSA EASARPLRVG SRVEVIGKGH RGTVAYVGAT LFATGKWVGV
ILDEAKGKND RTVQGRKYFT CDEGHGIFVR QSQIQVFEDG ADTTSPETPD SSASKVLKRE
GTDTTAKTSK LAPTARKTTT RRPKPTRPAS TGVAGASSSL GPSGSASAGE LSSSEPSTPA
QTPLAAPIIP TPVLTSPGAV PPLPSPSKEE EGLRAQVRDL EEKLETLRLK RAEDKAKLKE
LEKHKIQLEQ VQEWKSKMQE QQADLQRRLK EARKEAKEAL EAKERYMEEM ADTADAIEMA
TLDKEMAEER AESLQQEVEA LKERVDELTT DLEILKAEIE EKGSDGAASS YQLKQLEEQN
ARLKDALVRM RDLSSSEKQE HVKLQKLMEK KNQELEVVRQ QRERLQEELS QAESTIDELK
EQVDAALGAE EMVEMLTDRN LNLEEKVREL RETVGDLEAM NEMNDELQEN ARETELELRE
QLDMAGARVR EAQKRVEAAQ ETVADYQQTI KKYRQLTAHL QDVNRELTNQ QEASVERQQQ
PPPETFDFKI KFAETKAHAK AIEMELRQME VAQANRHMSL LTAFMPDSFL RPGGDHDCVL
VLLLMPRLIC KAELIRKQAQ EKFELSENCS ERPGLRGAAG EQLSFAAGLV YSLSLLQATL
HRYEHALSQC SVDVYKKVGS LYPEMSAHER SLDFLIELLH KDQLDETVNV EPLTKAIKYY
QHLYSIHLAE QPEDCTMQLA DHIKFTQSAL DCMSVEVGRL RAFLQGGQEA TDIALLLRDL
ETSCSDIRQF CKKIRRRMPG TDAPGIPAAL AFGPQVSDTL LDCRKHLTWV VAVLQEVAAA
AAQLIAPLAE NEGLLVAALE ELAFKASEQI YGTPSSSPYE CLRQSCNILI STMNKLATAM
QEGEYDAERP PSKPPPVELR AAALRAEITD AEGLGLKLED RETVIKELKK SLKIKGEELS
EANVRLSLLE KKLDSAAKDA DERIEKVQTR LEETQALLRK KEKEFEETMD ALQADIDQLE
AEKAELKQRL NSQSKRTIEG LRGPPPSGIA TLVSGIAGEE QQRGAIPGQA PGSVPGPGLV
KDSPLLLQQI SAMRLHISQL QHENSILKGA QMKASLASLP PLHVAKLSHE GPGSELPAGA
LYRKTSQLLE TLNQLSTHTH VVDITRTSPA AKSPSAQLME QVAQLKSLSD TVEKLKDEVL
KETVSQRPGA TVPTDFATFP SSAFLRAKEE QQDDTVYMGK VTFSCAAGFG QRHRLVLTQE
QLHQLHSRLI S*
speed 0.74 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