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 ENST00000381968
Genbank transcript ID NM_138567
UniProt peptide Q8NBV8
alteration type single base exchange
alteration region CDS
DNA changes c.908C>T
cDNA.1036C>T
g.9554C>T
AA changes T303M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 303
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      303WKKRKTATKKGTAAPYFNEAFTFL
mutated  not conserved    303KGMAAPYFNEAFTF
Ptroglodytes  all identical  ENSPTRG00000003160  303WKKRKTATKKGTAAP
Mmulatta  all identical  ENSMMUG00000004837  284WKKRKTATRKGTAAPYFNEAFTF
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031098  299WKKSKTSSKKGTTT
Ggallus  all identical  ENSGALG00000006602  302TLSPYFNEAFVF
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 1206 / 1206
position (AA) of stopcodon in wt / mu AA sequence 402 / 402
position of stopcodon in wt / mu cDNA 1334 / 1334
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 129 / 129
chromosome 11
strand 1
last intron/exon boundary 1095
theoretical NMD boundary in CDS 916
length of CDS 1206
coding sequence (CDS) position 908
cDNA position
(for ins/del: last normal base / first normal base)		 1036
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 MLHLHGWQTM QGRKMGHPPV SPSAPAPAGT TAIPGLIPDL VAGTPWPRWA LIAGALAAGV
LLVSCLLCAA CCCCRRHRKK PRDKESVGLG SARGTTTTHL VQPDVDGLES SPGDAQQWGC
LQLSLEFDFG SQEIRVGLRQ AADLRPGGTV DPYARVSVST QAGHRHETKV HRGTLCPVFD
ETCCFHIPQA ELPGATLQVQ LFNFKRFSGH EPLGELRLPL GTVDLQHVLE HWYLLGPPAA
TQPEQVGELC FSLRYVPSSG RLTVVVLEAR GLRPGLAEPY VKVQLMLNQR KWKKRKTATK
KGTAAPYFNE AFTFLVPFSQ VQNVDLVLAV WDRSLPLRTE PVGKVHLGAR ASGQPLQHWA
DMLAHARRPI AQRHPLRPAR EVDRMLALQP RLRLRLPLPH S*
mutated AA sequence MLHLHGWQTM QGRKMGHPPV SPSAPAPAGT TAIPGLIPDL VAGTPWPRWA LIAGALAAGV
LLVSCLLCAA CCCCRRHRKK PRDKESVGLG SARGTTTTHL VQPDVDGLES SPGDAQQWGC
LQLSLEFDFG SQEIRVGLRQ AADLRPGGTV DPYARVSVST QAGHRHETKV HRGTLCPVFD
ETCCFHIPQA ELPGATLQVQ LFNFKRFSGH EPLGELRLPL GTVDLQHVLE HWYLLGPPAA
TQPEQVGELC FSLRYVPSSG RLTVVVLEAR GLRPGLAEPY VKVQLMLNQR KWKKRKTATK
KGMAAPYFNE AFTFLVPFSQ VQNVDLVLAV WDRSLPLRTE PVGKVHLGAR ASGQPLQHWA
DMLAHARRPI AQRHPLRPAR EVDRMLALQP RLRLRLPLPH S*
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