Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999981258841193 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM074977)
  • known disease mutation: rs4630 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:102748919G>AN/A show variant in all transcripts   IGV
HGNC symbol TWNK
Ensembl transcript ID ENST00000370228
Genbank transcript ID NM_001163812
UniProt peptide Q96RR1
alteration type single base exchange
alteration region CDS
DNA changes c.952G>A
cDNA.1137G>A
g.1796G>A
AA changes A318T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 318
frameshift no
known variant Reference ID: rs80356542
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs4630 (pathogenic for Infantile onset spinocerebellar ataxia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM074977)

known disease mutation at this position, please check HGMD for details (HGMD ID CM074977)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074977)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2270.965
3.5871
(flanking)5.9721
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased1792wt: 0.28 / mu: 0.88wt: TGGGAAGCCGCCAAG
mu: TGGGAAGCCACCAAG		 GGAA|gccg
distance from splice site 292
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      318WLGDDLRSWEAAKLFARKLNPKRC
mutated  not conserved    318WLGDDLRSWEATKLFARKLNPKR
Ptroglodytes  no alignment  ENSPTRG00000029751  n/a
Mmulatta  all identical  ENSMMUG00000010677  318WLGDDLRSWEAAKLFARKLNPKR
Fcatus  all identical  ENSFCAG00000015694  318WLGDDLRSWEAAKLFARKLNPKR
Mmusculus  all identical  ENSMUSG00000025209  319WLGDDLRSWEAAKLFARKLNPKR
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0032154  284WLHYDASHSWDAARAFALKLDER
Celegans  all identical  F46G11.1  232PVQHVSY--AKDWGSALNTLK
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
351351CONFLICTN -> D (in Ref. 3; CAE45905).might get lost (downstream of altered splice site)
384635DOMAINSF4 helicase.might get lost (downstream of altered splice site)
415422NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1749 / 1749
position (AA) of stopcodon in wt / mu AA sequence 583 / 583
position of stopcodon in wt / mu cDNA 1934 / 1934
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 186 / 186
chromosome 10
strand 1
last intron/exon boundary 1964
theoretical NMD boundary in CDS 1728
length of CDS 1749
coding sequence (CDS) position 952
cDNA position
(for ins/del: last normal base / first normal base)		 1137
gDNA position
(for ins/del: last normal base / first normal base)		 1796
chromosomal position
(for ins/del: last normal base / first normal base)		 102748919
original gDNA sequence snippet ACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAA
altered gDNA sequence snippet ACCTTCGGTCCTGGGAAGCCACCAAGTTGTTTGCACGAAAA
original cDNA sequence snippet ACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAA
altered cDNA sequence snippet ACCTTCGGTCCTGGGAAGCCACCAAGTTGTTTGCACGAAAA
wildtype AA sequence MWVLLRSGYP LRILLPLRGE WMGRRGLPRN LAPGPPRRRY RKETLQALDM PVLPVTATEI
RQYLRGHGIP FQDGHSCLRA LSPFAESSQL KGQTGVTTSF SLFIDKTTGH FLCMTSLAEG
SWEDFQASVE GRGDGAREGF LLSKAPEFED SEEVRRIWNR AIPLWELPDQ EEVQLADTMF
GLTKVTDDTL KRFSVRYLRP ARSLVFPWFS PGGSGLRGLK LLEAKCQGDG VSYEETTIPR
PSAYHNLFGL PLISRRDAEV VLTSRELDSL ALNQSTGLPT LTLPRGTTCL PPALLPYLEQ
FRRIVFWLGD DLRSWEAAKL FARKLNPKRC FLVRPGDQQP RPLEALNGGF NLSRILRTAL
PAWHKSIVSF RQLREEVLGE LSNVEQAAGL RWSRFPDLNR ILKGHRKGEL TVFTGPTGSG
KTTFISEYAL DLCSQGVNTL WGSFEISNVR LARVMLTQFA EGRLEDQLDK YDHWADRFED
LPLYFMTFHG QQSIRTVIDT MQHAVYVYDI CHVIIDNLQF MMGHEQLSTD RIAAQDYIIG
VFRKFATDNN CHVTLVIHPR KEDDDKELQT ASIFGSAKVS GL*
mutated AA sequence MWVLLRSGYP LRILLPLRGE WMGRRGLPRN LAPGPPRRRY RKETLQALDM PVLPVTATEI
RQYLRGHGIP FQDGHSCLRA LSPFAESSQL KGQTGVTTSF SLFIDKTTGH FLCMTSLAEG
SWEDFQASVE GRGDGAREGF LLSKAPEFED SEEVRRIWNR AIPLWELPDQ EEVQLADTMF
GLTKVTDDTL KRFSVRYLRP ARSLVFPWFS PGGSGLRGLK LLEAKCQGDG VSYEETTIPR
PSAYHNLFGL PLISRRDAEV VLTSRELDSL ALNQSTGLPT LTLPRGTTCL PPALLPYLEQ
FRRIVFWLGD DLRSWEATKL FARKLNPKRC FLVRPGDQQP RPLEALNGGF NLSRILRTAL
PAWHKSIVSF RQLREEVLGE LSNVEQAAGL RWSRFPDLNR ILKGHRKGEL TVFTGPTGSG
KTTFISEYAL DLCSQGVNTL WGSFEISNVR LARVMLTQFA EGRLEDQLDK YDHWADRFED
LPLYFMTFHG QQSIRTVIDT MQHAVYVYDI CHVIIDNLQF MMGHEQLSTD RIAAQDYIIG
VFRKFATDNN CHVTLVIHPR KEDDDKELQT ASIFGSAKVS GL*
speed 0.56 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