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 marginally increased300952wt: 0.4615 / mu: 0.4882 (marginal change - not scored)wt: CCTTAACTTCCTGCTTGCAGCGTTTGATCCGTAAGCACCCT
mu: CCTTAACTTCCTGCTTGCAGCGTTTGATCTGTAAGCACCCT		 cagc|GTTT
Acc increased300951wt: 0.42 / mu: 0.47wt: TCCTTAACTTCCTGCTTGCAGCGTTTGATCCGTAAGCACCC
mu: TCCTTAACTTCCTGCTTGCAGCGTTTGATCTGTAAGCACCC		 gcag|CGTT
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 0.74 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