Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999998983 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:143436034A>GN/A show variant in all transcripts   IGV
HGNC symbol TSNARE1
Ensembl transcript ID ENST00000519651
Genbank transcript ID N/A
UniProt peptide Q96NA8
alteration type single base exchange
alteration region CDS
DNA changes c.52T>C
cDNA.156T>C
g.48568T>C
AA changes F18L Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 18
frameshift no
known variant Reference ID: rs7814359
databasehomozygous (G/G)heterozygousallele carriers
1000G4139561369
ExAC42582056224820
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2450.008
0.7770.012
(flanking)0.2270.013
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 increased48572wt: 0.4764 / mu: 0.5030 (marginal change - not scored)wt: GGGGAGCCGTGGCCCTTTCGGGGGACCTTCGAGACAAGGCT
mu: GGGGAGCCGTGGCCCTCTCGGGGGACCTTCGAGACAAGGCT		 tcgg|GGGA
distance from splice site 37
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      18ARGGGLGSRGPFGGPSRQGCQPLA
mutated  not conserved    18ARGGGLGSRGPLGGPSRQGCQPL
Ptroglodytes  no alignment  ENSPTRG00000020633  n/a
Mmulatta  no homologue    
Fcatus  no alignment  ENSFCAG00000010752  n/a
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0036341  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 834 / 834
position (AA) of stopcodon in wt / mu AA sequence 278 / 278
position of stopcodon in wt / mu cDNA 938 / 938
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 105 / 105
chromosome 8
strand -1
last intron/exon boundary 894
theoretical NMD boundary in CDS 739
length of CDS 834
coding sequence (CDS) position 52
cDNA position
(for ins/del: last normal base / first normal base)		 156
gDNA position
(for ins/del: last normal base / first normal base)		 48568
chromosomal position
(for ins/del: last normal base / first normal base)		 143436034
original gDNA sequence snippet GCCTGGGGAGCCGTGGCCCTTTCGGGGGACCTTCGAGACAA
altered gDNA sequence snippet GCCTGGGGAGCCGTGGCCCTCTCGGGGGACCTTCGAGACAA
original cDNA sequence snippet GCCTGGGGAGCCGTGGCCCTTTCGGGGGACCTTCGAGACAA
altered cDNA sequence snippet GCCTGGGGAGCCGTGGCCCTCTCGGGGGACCTTCGAGACAA
wildtype AA sequence MSYGSIARGG GLGSRGPFGG PSRQGCQPLA TQVDPCNLQE LFQEMSANVF RINSSVTSLE
RSLQSLGTPS DTQELRDSLH TAQQETNKTI AASASSVKQM AELLRSSCPE RLQQERPQLD
RLKTQLSDAI QCYGVVQKKI AEKSRALLPM AQRGSKQQSP QAPFAELADD EKVFNGSDNM
WQGQEQALLP DITEEDLEAI RLREEAILQM ESNLLDVNQI IKDLASMVSE QGEAVDSIEA
SLEAASSHAE AARQLLAGAS RHQLMRRTRP PAACGCP*
mutated AA sequence MSYGSIARGG GLGSRGPLGG PSRQGCQPLA TQVDPCNLQE LFQEMSANVF RINSSVTSLE
RSLQSLGTPS DTQELRDSLH TAQQETNKTI AASASSVKQM AELLRSSCPE RLQQERPQLD
RLKTQLSDAI QCYGVVQKKI AEKSRALLPM AQRGSKQQSP QAPFAELADD EKVFNGSDNM
WQGQEQALLP DITEEDLEAI RLREEAILQM ESNLLDVNQI IKDLASMVSE QGEAVDSIEA
SLEAASSHAE AARQLLAGAS RHQLMRRTRP PAACGCP*
speed 0.32 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