Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999989004 (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 ENST00000520166
Genbank transcript ID N/A
UniProt peptide Q96NA8
alteration type single base exchange
alteration region CDS
DNA changes c.52T>C
cDNA.91T>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      18ARGGGLGSRGPFGGPSRQGCQPLE
mutated  not conserved    18ARGGGLGSRGPLGGPSRQGCQPL
Ptroglodytes  all identical  ENSPTRG00000020633  18ARGGGLGSRGPFGGPSRQGCQPL
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000010752  18AGSGGLGSHGPFGGPSRQGYQPL
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 1542 / 1542
position (AA) of stopcodon in wt / mu AA sequence 514 / 514
position of stopcodon in wt / mu cDNA 1581 / 1581
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 40 / 40
chromosome 8
strand -1
last intron/exon boundary 1593
theoretical NMD boundary in CDS 1503
length of CDS 1542
coding sequence (CDS) position 52
cDNA position
(for ins/del: last normal base / first normal base)		 91
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 PSRQGCQPLE CARCWTEYGI RHFPCPSPES KLQNRCVGKD
GEGDLGPAGT PIVPRARKRG PGVAPEGSRM PEPTSSPTIG PRKDSAAGPH GRMAGPSTTR
AKKRKPNFCP QETEVLVSKV SKHHQLLFGT GLLKAEPTRR YRVWSRILQA VNALGYCRRD
VVDLKHKWRD LRAVVRRKLG DLRKAAHGPS PGSGKPQALA LTPVEQVVAK TFSCQALPSE
GFSLEPPRAT QVDPCNLQEL FQEMSANVFR INSSVTSLER SLQSLGTPSD TQELRDSLHT
AQQETNKTIA ASASSVKQMA ELLRSSCPER LQQERPQLDR LKTQLSDAIQ CYGVVQKKIA
EKSRALLPMA QRGSKQQSPQ APFAELADDE KVFNGSDNMW QGQEQALLPD ITEEDLEAIR
LREEAILQME SNLLDVNQII KDLASMVSEQ GEAVDSIEAS LEAASSHAEA ARQLLAGASR
HQLQRHKIKC CFLSAGVTAL LVIIIIIATS VRK*
mutated AA sequence MSYGSIARGG GLGSRGPLGG PSRQGCQPLE CARCWTEYGI RHFPCPSPES KLQNRCVGKD
GEGDLGPAGT PIVPRARKRG PGVAPEGSRM PEPTSSPTIG PRKDSAAGPH GRMAGPSTTR
AKKRKPNFCP QETEVLVSKV SKHHQLLFGT GLLKAEPTRR YRVWSRILQA VNALGYCRRD
VVDLKHKWRD LRAVVRRKLG DLRKAAHGPS PGSGKPQALA LTPVEQVVAK TFSCQALPSE
GFSLEPPRAT QVDPCNLQEL FQEMSANVFR INSSVTSLER SLQSLGTPSD TQELRDSLHT
AQQETNKTIA ASASSVKQMA ELLRSSCPER LQQERPQLDR LKTQLSDAIQ CYGVVQKKIA
EKSRALLPMA QRGSKQQSPQ APFAELADDE KVFNGSDNMW QGQEQALLPD ITEEDLEAIR
LREEAILQME SNLLDVNQII KDLASMVSEQ GEAVDSIEAS LEAASSHAEA ARQLLAGASR
HQLQRHKIKC CFLSAGVTAL LVIIIIIATS VRK*
speed 0.67 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