Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 9.14577656320414e-10 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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 ENST00000527523
Genbank transcript ID N/A
UniProt peptide Q9HCH5
alteration type single base exchange
alteration region intron
DNA changes g.85833C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
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 2587
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 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 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 232 / 232
chromosome 11
strand -1
last intron/exon boundary 2795
theoretical NMD boundary in CDS 2513
length of CDS 2709
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)		 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 N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MSGQWFYEAK AKRHRDKIHG ADIIRASMRK KRPQIAAEQS KDRENGAKES WVNNVNKDAF
LPPELAGVVE EPEEDAAPAS PSSSVVNPAS SVIDMSQENT RKPNVSPEKR KNPFNSSKLP
EGHSSQQTKN EQSKNGRTGL FQTSKEDELS ESKEKSTVAD TSIQKLEKSK QTLPGLSNGS
QIKAPIPKAR KMIYKSTDLN KDDNQSFPRQ RTDSLKARGA PRGILKRNSS SSSTDSETLR
YNHNFEPKSK IVSPGLTIHE RISEKEHSLE DNSSPNSLEP LKHVRFSAVK DELPQSPGLI
HGREVGEFSV LESDRLKNGM EDAGDTEEFQ SDPKPSQYRK PSLFHQSTSS PYVSKSETHQ
PMTSGSFPIN GLHSHSEVLT ARPQSMENSP TINEPKDKSS ELTRLESVLP RSPADELSHC
VEPEPSQVPG GSSRDRQQGS 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 N/A
speed 0.81 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