Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.996459000397328 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:85436352G>AN/A show variant in all transcripts   IGV
HGNC symbol SYTL2
Ensembl transcript ID ENST00000354566
Genbank transcript ID NM_206927
UniProt peptide Q9HCH5
alteration type single base exchange
alteration region CDS
DNA changes c.1148C>T
cDNA.1160C>T
g.85833C>T
AA changes T383M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 383
frameshift no
known variant Reference ID: rs641393
databasehomozygous (A/A)heterozygousallele carriers
1000G71011911901
ExAC21670-1057311097
regulatory features H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6230.938
-0.2350.875
(flanking)3.2190.9
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased85831wt: 0.31 / mu: 0.53wt: GCTAGGGTACACCCTTCTCAAACGGAAATTTCGGAGACTGT
mu: GCTAGGGTACACCCTTCTCAAATGGAAATTTCGGAGACTGT		 tcaa|ACGG
Donor marginally increased85834wt: 0.5422 / mu: 0.5451 (marginal change - not scored)wt: CAAACGGAAATTTCG
mu: CAAATGGAAATTTCG		 AACG|gaaa
Donor gained858260.36mu: ACCCTTCTCAAATGG CCTT|ctca
distance from splice site 1160
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      383LVPQARVHPSQTEISETVEKVILP
mutated  not conserved    383LVPQARVHPSQMEISETVEKVIL
Ptroglodytes  all identical  ENSPTRG00000004137  383LVPQARVHPSQTEISETVEKVIL
Mmulatta  all identical  ENSMMUG00000012449  904LVPQARAHPSQTEISETVEKVVL
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000030616  405LPSENGTLPSQKEISEAIEKVVL
Ggallus  no alignment  ENSGALG00000014079  n/a
Trubripes  no alignment  ENSTRUG00000001148  n/a
Drerio  no alignment  ENSDARG00000061956  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000012793  n/a
protein features
start (aa)end (aa)featuredetails 
488488MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
562562MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
579619COMPBIASSer-rich.might get lost (downstream of altered splice site)
603603CONFLICTS -> P (in Ref. 1; ABV82746).might get lost (downstream of altered splice site)
629733DOMAINC2 1.might get lost (downstream of altered splice site)
658658CONFLICTA -> V (in Ref. 4; BAD18516).might get lost (downstream of altered splice site)
682682CONFLICTK -> M (in Ref. 7; AAI44116).might get lost (downstream of altered splice site)
718718CONFLICTI -> V (in Ref. 4; BAB15030).might get lost (downstream of altered splice site)
778880DOMAINC2 2.might get lost (downstream of altered splice site)
860860CONFLICTA -> V (in Ref. 3; BAB13423).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3819 / 3819
position (AA) of stopcodon in wt / mu AA sequence 1273 / 1273
position of stopcodon in wt / mu cDNA 3831 / 3831
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 13 / 13
chromosome 11
strand -1
last intron/exon boundary 3686
theoretical NMD boundary in CDS 3623
length of CDS 3819
coding sequence (CDS) position 1148
cDNA position
(for ins/del: last normal base / first normal base)		 1160
gDNA position
(for ins/del: last normal base / first normal base)		 85833
chromosomal position
(for ins/del: last normal base / first normal base)		 85436352
original gDNA sequence snippet TAGGGTACACCCTTCTCAAACGGAAATTTCGGAGACTGTAG
altered gDNA sequence snippet TAGGGTACACCCTTCTCAAATGGAAATTTCGGAGACTGTAG
original cDNA sequence snippet TAGGGTACACCCTTCTCAAACGGAAATTTCGGAGACTGTAG
altered cDNA sequence snippet TAGGGTACACCCTTCTCAAATGGAAATTTCGGAGACTGTAG
wildtype AA sequence MDEPNAEQVY NPSQFENLRK FWDLEANSNS KDNDKNITTT SQKNSAPFNR QKHKEFSDIK
LSGKNTHEAE VLLSPKKVMA REEMEKLNSK GILQVLPDEI TFPLSPLRKY TYQLPGNESS
KENVEKNTEG IVTPVFKEEK DYSEQEIQES IIKTNVLSKD CKDTFNDSLQ KLLSETSTPA
IQPSGGKVHG KQVLEPSVSE NRTWPQKTDF ADTEEEVKGP EKIINEHVDK TVVHPKVKRN
SLTASLDKLL KEATGTSPSP LQAKLAPVIT GTNSKLEEGR FFGKGIEQSH NTSADKREIL
APFPVRDETF GNTALLKKAE SGECQLSTQN LIQMAAEDSH PLDPTSQLSR KGSFGDVASP
PQDMLFPQDA HLVPQARVHP SQTEISETVE KVILPPRPVL NDVSAALQKL CGEVWLSYPA
GREVGPGEVN PEFPEAVQPV CSPLNPPGVI SPWATMDTIV PDRKDFYSSN VVPDKTHEVG
SYLAAQMSPS DQTLSSFASI VAQYGKGLPQ EVEEIVRETI VQPKSEFLEF SAGLEKLLKE
ETETFPSKYE SDTGNLSPSK LIGSTEEPRR ATSECHPEEL KETVEKAEAP LITESAFDAG
FEKLLKEITE APPYQPQVSV REETHEKESS QSEQTRFLGT VPHFYRAASQ TSEMKDKSNG
LESQVNQCDK MLGGDALVTD LLVDFCGSRS GVEIPRTPQL YVAHEIGTIK TVTPPEDRDS
ESGVAGGQGT LQEPGFGEAS EAISVSRNRQ PIPLLMNKEN STKTSKVELT LASPYMKQEK
EEEKEGFSES DFSDGNTSSN AESWRNPSSS EEEPSPVLKT LERSAARKMP SKSLEDISSD
SSNQAKVDNQ PEELVRSAED DEKPDQKPVT NECVPRISTV PTQPDNPFSH PDKLKRMSKS
VPAFLQDESD DRETDTASES SYQLSRHKKS PSSLTNLSSS SGMTSLSSVS GSVMSVYSGD
FGNLEVKGNI QFAIEYVESL KELHVFVAQC KDLAAADVKK QRSDPYVKAY LLPDKGKMGK
KKTLVVKKTL NPVYNEILRY KIEKQILKTQ KLNLSIWHRD TFKRNSFLGE VELDLETWDW
DNKQNKQLRW YPLKRKTAPV ALEAENRGEM KLALQYVPEP VPGKKLPTTG EVHIWVKECL
DLPLLRGSHL NSFVKCTILP DTSRKSRQKT RAVGKTTNPI FNHTMVYDGF RPEDLMEACV
ELTVWDHYKL TNQFLGGLRI GFGTGKSYGT EVDWMDSTSE EVALWEKMVN SPNTWIEATL
PLRMLLIAKI SK*
mutated AA sequence MDEPNAEQVY NPSQFENLRK FWDLEANSNS KDNDKNITTT SQKNSAPFNR QKHKEFSDIK
LSGKNTHEAE VLLSPKKVMA REEMEKLNSK GILQVLPDEI TFPLSPLRKY TYQLPGNESS
KENVEKNTEG IVTPVFKEEK DYSEQEIQES IIKTNVLSKD CKDTFNDSLQ KLLSETSTPA
IQPSGGKVHG KQVLEPSVSE NRTWPQKTDF ADTEEEVKGP EKIINEHVDK TVVHPKVKRN
SLTASLDKLL KEATGTSPSP LQAKLAPVIT GTNSKLEEGR FFGKGIEQSH NTSADKREIL
APFPVRDETF GNTALLKKAE SGECQLSTQN LIQMAAEDSH PLDPTSQLSR KGSFGDVASP
PQDMLFPQDA HLVPQARVHP SQMEISETVE KVILPPRPVL NDVSAALQKL CGEVWLSYPA
GREVGPGEVN PEFPEAVQPV CSPLNPPGVI SPWATMDTIV PDRKDFYSSN VVPDKTHEVG
SYLAAQMSPS DQTLSSFASI VAQYGKGLPQ EVEEIVRETI VQPKSEFLEF SAGLEKLLKE
ETETFPSKYE SDTGNLSPSK LIGSTEEPRR ATSECHPEEL KETVEKAEAP LITESAFDAG
FEKLLKEITE APPYQPQVSV REETHEKESS QSEQTRFLGT VPHFYRAASQ TSEMKDKSNG
LESQVNQCDK MLGGDALVTD LLVDFCGSRS GVEIPRTPQL YVAHEIGTIK TVTPPEDRDS
ESGVAGGQGT LQEPGFGEAS EAISVSRNRQ PIPLLMNKEN STKTSKVELT LASPYMKQEK
EEEKEGFSES DFSDGNTSSN AESWRNPSSS EEEPSPVLKT LERSAARKMP SKSLEDISSD
SSNQAKVDNQ PEELVRSAED DEKPDQKPVT NECVPRISTV PTQPDNPFSH PDKLKRMSKS
VPAFLQDESD DRETDTASES SYQLSRHKKS PSSLTNLSSS SGMTSLSSVS GSVMSVYSGD
FGNLEVKGNI QFAIEYVESL KELHVFVAQC KDLAAADVKK QRSDPYVKAY LLPDKGKMGK
KKTLVVKKTL NPVYNEILRY KIEKQILKTQ KLNLSIWHRD TFKRNSFLGE VELDLETWDW
DNKQNKQLRW YPLKRKTAPV ALEAENRGEM KLALQYVPEP VPGKKLPTTG EVHIWVKECL
DLPLLRGSHL NSFVKCTILP DTSRKSRQKT RAVGKTTNPI FNHTMVYDGF RPEDLMEACV
ELTVWDHYKL TNQFLGGLRI GFGTGKSYGT EVDWMDSTSE EVALWEKMVN SPNTWIEATL
PLRMLLIAKI SK*
speed 1.02 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