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 1.00 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