Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1.40348473800687e-06 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:1858262C>TN/A show variant in all transcripts   IGV
HGNC symbol SYT8
Ensembl transcript ID ENST00000341958
Genbank transcript ID N/A
UniProt peptide Q8NBV8
alteration type single base exchange
alteration region CDS
DNA changes c.866C>T
cDNA.1168C>T
g.9554C>T
AA changes T289M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 289
frameshift no
known variant Reference ID: rs484955
databasehomozygous (T/T)heterozygousallele carriers
1000G136657793
ExAC16941453316227
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6290.975
3.4510.972
(flanking)-1.8450.003
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 59
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      289WKKRKTATKKGTAAPYFNEAFTFL
mutated  not conserved    289WKKRKTATKKGMAAPYFNEAFTF
Ptroglodytes  all identical  ENSPTRG00000003160  303WKKRKTATKKGTAAPYFNEAFTF
Mmulatta  all identical  ENSMMUG00000004837  284WKKRKTATRKGTAAPYFNEAFTF
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031098  299WKKSKTSSKKGTTTPYFNEAF
Ggallus  all identical  ENSGALG00000006602  298WKKKKTSVKKNTLSPY
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000009564  295WKKKKTSVKKRTLNPY
Dmelanogaster  all identical  FBgn0004242  387KTSIKKCTLNPYYNESFSF
Celegans  all identical  F31E8.2  350LKKKKTNIKRKTLNPYFNESFVF
Xtropicalis  all identical  ENSXETG00000004623  294WKRKKTAVKKSTLKPYFNESFTF
protein features
start (aa)end (aa)featuredetails 
70401TOPO_DOMCytoplasmic (Potential).lost
247346DOMAINC2 2.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1164 / 1164
position (AA) of stopcodon in wt / mu AA sequence 388 / 388
position of stopcodon in wt / mu cDNA 1466 / 1466
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 303 / 303
chromosome 11
strand 1
last intron/exon boundary 1227
theoretical NMD boundary in CDS 874
length of CDS 1164
coding sequence (CDS) position 866
cDNA position
(for ins/del: last normal base / first normal base)		 1168
gDNA position
(for ins/del: last normal base / first normal base)		 9554
chromosomal position
(for ins/del: last normal base / first normal base)		 1858262
original gDNA sequence snippet GACAGCCACCAAAAAGGGCACGGCGGCCCCCTACTTCAATG
altered gDNA sequence snippet GACAGCCACCAAAAAGGGCATGGCGGCCCCCTACTTCAATG
original cDNA sequence snippet GACAGCCACCAAAAAGGGCACGGCGGCCCCCTACTTCAATG
altered cDNA sequence snippet GACAGCCACCAAAAAGGGCATGGCGGCCCCCTACTTCAATG
wildtype AA sequence MGHPPVSPSA PAPAGTTAIP GLIPDLVAGT PWPRWALIAG ALAAGVLLVS CLLCAACCCC
RRHRKKPRDK ESVGLGSARG TTTTHLVQPD VDGLESSPGD AQQWGCLQLS LEFDFGSQEI
RVGLRQAADL RPGGTVDPYA RVSVSTQAGH RHETKVHRGT LCPVFDETCC FHIPQAELPG
ATLQVQLFNF KRFSGHEPLG ELRLPLGTVD LQHVLEHWYL LGPPAATQPE QVGELCFSLR
YVPSSGRLTV VVLEARGLRP GLAEPYVKVQ LMLNQRKWKK RKTATKKGTA APYFNEAFTF
LVPFSQVQNV DLVLAVWDRS LPLRTEPVGK VHLGARASGQ PLQHWADMLA HARRPIAQRH
PLRPAREVDR MLALQPRLRL RLPLPHS*
mutated AA sequence MGHPPVSPSA PAPAGTTAIP GLIPDLVAGT PWPRWALIAG ALAAGVLLVS CLLCAACCCC
RRHRKKPRDK ESVGLGSARG TTTTHLVQPD VDGLESSPGD AQQWGCLQLS LEFDFGSQEI
RVGLRQAADL RPGGTVDPYA RVSVSTQAGH RHETKVHRGT LCPVFDETCC FHIPQAELPG
ATLQVQLFNF KRFSGHEPLG ELRLPLGTVD LQHVLEHWYL LGPPAATQPE QVGELCFSLR
YVPSSGRLTV VVLEARGLRP GLAEPYVKVQ LMLNQRKWKK RKTATKKGMA APYFNEAFTF
LVPFSQVQNV DLVLAVWDRS LPLRTEPVGK VHLGARASGQ PLQHWADMLA HARRPIAQRH
PLRPAREVDR MLALQPRLRL RLPLPHS*
speed 0.68 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