Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1      (explain)
Summary
  • known disease mutation at this position (HGMD CM030532)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:46906063C>TN/A show variant in all transcripts   IGV
HGNC symbol DYM
Ensembl transcript ID ENST00000442713
Genbank transcript ID N/A
UniProt peptide Q7RTS9
alteration type single base exchange
alteration region intron
DNA changes g.81655G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs120074164
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known disease mutation at this position, please check HGMD for details (HGMD ID CM030532)

known disease mutation at this position, please check HGMD for details (HGMD ID CM030532)
known disease mutation at this position, please check HGMD for details (HGMD ID CM030532)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)3.3661
4.321
(flanking)3.311
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased81646wt: 0.9424 / mu: 0.9493 (marginal change - not scored)wt: TAATTAAGGTCTTCCTTTCTAGAACCAAAGAACTAAAACTT
mu: TAATTAAGGTCTTCCTTTCTAGAACCAAAAAACTAAAACTT		 tcta|GAAC
Donor increased81656wt: 0.20 / mu: 0.30wt: CAAAGAACTAAAACT
mu: CAAAAAACTAAAACT		 AAGA|acta
Donor marginally increased81658wt: 0.4799 / mu: 0.5412 (marginal change - not scored)wt: AAGAACTAAAACTTT
mu: AAAAACTAAAACTTT		 GAAC|taaa
Donor increased81657wt: 0.48 / mu: 0.68wt: AAAGAACTAAAACTT
mu: AAAAAACTAAAACTT		 AGAA|ctaa
distance from splice site 11900
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
6666CONFLICTE -> K (in Ref. 2; BAC11088).might get lost (downstream of altered splice site)
249249CONFLICTL -> P (in Ref. 2; BAC11088).might get lost (downstream of altered splice site)
381381CONFLICTE -> G (in Ref. 3; BAF83992).might get lost (downstream of altered splice site)
408408CONFLICTD -> Y (in Ref. 4; AAH64394).might get lost (downstream of altered splice site)
453453CONFLICTR -> K (in Ref. 3; BAF83992).might get lost (downstream of altered splice site)
458458MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
537537CONFLICTE -> G (in Ref. 3; BAF83992).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 322 / 322
chromosome 18
strand -1
last intron/exon boundary 1612
theoretical NMD boundary in CDS 1240
length of CDS 1440
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 81655
chromosomal position
(for ins/del: last normal base / first normal base)		 46906063
original gDNA sequence snippet TCTTCCTTTCTAGAACCAAAGAACTAAAACTTTCAGCAGAA
altered gDNA sequence snippet TCTTCCTTTCTAGAACCAAAAAACTAAAACTTTCAGCAGAA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MGSNSSRIGD LPKNEYLKKL SGTESISEND PFWNQLLSFS FPAPTSSSEL KLLEEATISV
CRSLAGLWTV FTLGGVGSKA AASPELSSPL ANQSLLLLLV LANLTDASDA PNPYRQAIMS
FKNTQDSSPF PSSIPHAFQI NFNSLYTALC EQQTSDQATL LLYTLLHQNS NIRTYMLART
DMENLVLPIL EILYHVEERN SHHVYMALII LLILTEDDGF NRSIHEVILK NITWYSERVL
TEISLGSLLI LVVIRTIQYN MTRTRDKYLH TNCLAALANM SAQFRSLHQY AAQRIISLFS
LLSKKHNKVL EQATQSLRGS LSSNDVPLPD YAQDLNVIEE VIRMMLEIIN SCLTNSLHHN
PNLVYALLYK RDLFEQFRTH PSFQDIMQNI DLVISFFSSR LLQAGAELSV ERVLEIIKQG
VVALPKDRLK KFPELKFKYV EEEQPEEFFI PYVWSLVYNS AVGLYWNPQD IQLFTMDSD*
mutated AA sequence N/A
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