Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999991 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:143425720T>CN/A show variant in all transcripts   IGV
HGNC symbol TSNARE1
Ensembl transcript ID ENST00000524325
Genbank transcript ID N/A
UniProt peptide Q96NA8
alteration type single base exchange
alteration region CDS
DNA changes c.352A>G
cDNA.528A>G
g.58882A>G
AA changes T118A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 118
frameshift no
known variant Reference ID: rs10100935
databasehomozygous (C/C)heterozygousallele carriers
1000G94710411988
ExAC75101774725257
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3630.001
0.2410.001
(flanking)-3.3090
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 increased58888wt: 0.2542 / mu: 0.2977 (marginal change - not scored)wt: TGGCGGGGCCCAGCACTACCCGGGCCAAGAAGAGGAAGCCC
mu: TGGCGGGGCCCAGCGCTACCCGGGCCAAGAAGAGGAAGCCC		 accc|GGGC
distance from splice site 114
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      118AGPHGRMAGPSTTRAKKRKPNFCP
mutated  not conserved    118AGPHGRMAGPSATR
Ptroglodytes  not conserved  ENSPTRG00000020633  118AGPHGRMAGPSATR
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 1539 / 1539
position (AA) of stopcodon in wt / mu AA sequence 513 / 513
position of stopcodon in wt / mu cDNA 1715 / 1715
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 177 / 177
chromosome 8
strand -1
last intron/exon boundary 1727
theoretical NMD boundary in CDS 1500
length of CDS 1539
coding sequence (CDS) position 352
cDNA position
(for ins/del: last normal base / first normal base)		 528
gDNA position
(for ins/del: last normal base / first normal base)		 58882
chromosomal position
(for ins/del: last normal base / first normal base)		 143425720
original gDNA sequence snippet GCCGGATGGCGGGGCCCAGCACTACCCGGGCCAAGAAGAGG
altered gDNA sequence snippet GCCGGATGGCGGGGCCCAGCGCTACCCGGGCCAAGAAGAGG
original cDNA sequence snippet GCCGGATGGCGGGGCCCAGCACTACCCGGGCCAAGAAGAGG
altered cDNA sequence snippet GCCGGATGGCGGGGCCCAGCGCTACCCGGGCCAAGAAGAGG
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 QRGSKQSPQA PFAELADDEK VFNGSDNMWQ GQEQALLPDI TEEDLEAIRL
REEAILQMES NLLDVNQIIK DLASMVSEQG EAVDSIEASL EAASSHAEAA RQLLAGASRH
QLQRHKIKCC FLSAGVTALL VIIIIIATSV RK*
mutated AA sequence MSYGSIARGG GLGSRGPFGG PSRQGCQPLE CARCWTEYGI RHFPCPSPES KLQNRCVGKD
GEGDLGPAGT PIVPRARKRG PGVAPEGSRM PEPTSSPTIG PRKDSAAGPH GRMAGPSATR
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 QRGSKQSPQA PFAELADDEK VFNGSDNMWQ GQEQALLPDI TEEDLEAIRL
REEAILQMES NLLDVNQIIK DLASMVSEQG EAVDSIEASL EAASSHAEAA RQLLAGASRH
QLQRHKIKCC FLSAGVTALL VIIIIIATSV RK*
speed 0.75 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