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 0.84 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