Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999807 (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) chr6:32336586A>GN/A show variant in all transcripts   IGV
HGNC symbol TSBP1
Ensembl transcript ID ENST00000447241
Genbank transcript ID NM_006781
UniProt peptide Q5SRN2
alteration type single base exchange
alteration region CDS
DNA changes c.106T>C
cDNA.279T>C
g.3099T>C
AA changes Y36H Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 36
frameshift no
known variant Reference ID: rs9268384
databasehomozygous (G/G)heterozygousallele carriers
1000G30610231329
ExAC104121194322355
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7920.001
-0.7120
(flanking)-1.5130
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 increased3093wt: 0.8649 / mu: 0.9080 (marginal change - not scored)wt: TTTTGCCTAATTCTTCCACAGAAATGTATATCTCCAGATAC
mu: TTTTGCCTAATTCTTCCACAGAAATGCATATCTCCAGATAC		 acag|AAAT
Acc marginally increased3091wt: 0.9398 / mu: 0.9639 (marginal change - not scored)wt: CATTTTGCCTAATTCTTCCACAGAAATGTATATCTCCAGAT
mu: CATTTTGCCTAATTCTTCCACAGAAATGCATATCTCCAGAT		 ccac|AGAA
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      36TRWARCKQSEMYISRYSSEQSARL
mutated  all conserved    36TRWARCKQSEMHISRYSSEQSAR
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000018425  n/a
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000057246  39ARWSRRRNNGAGMSRFASEQSAG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
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 1692 / 1692
position (AA) of stopcodon in wt / mu AA sequence 564 / 564
position of stopcodon in wt / mu cDNA 1865 / 1865
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 174 / 174
chromosome 6
strand -1
last intron/exon boundary 811
theoretical NMD boundary in CDS 587
length of CDS 1692
coding sequence (CDS) position 106
cDNA position
(for ins/del: last normal base / first normal base)		 279
gDNA position
(for ins/del: last normal base / first normal base)		 3099
chromosomal position
(for ins/del: last normal base / first normal base)		 32336586
original gDNA sequence snippet CTAATTCTTCCACAGAAATGTATATCTCCAGATACAGTTCA
altered gDNA sequence snippet CTAATTCTTCCACAGAAATGCATATCTCCAGATACAGTTCA
original cDNA sequence snippet GATGTAAGCAAAGTGAAATGTATATCTCCAGATACAGTTCA
altered cDNA sequence snippet GATGTAAGCAAAGTGAAATGCATATCTCCAGATACAGTTCA
wildtype AA sequence MTVLEITLAV ILTLLGLAIL AILLTRWARC KQSEMYISRY SSEQSARLLD YEDGRGSRHA
YSTQSDTSYD NRERSKRDYT PSTNSLVSMA SKFSLGQTEL ILLLMCFILA LSRSSIGSIK
CLQTTEEPPS RTAGAMMQFT APIPGATGPI KLSQKTIVQT PGPIVQYPGS NAGPPSAPRG
PPMAPIIISQ RTARIPQVHT MDSSGKITLT PVVILTGYMD EELAKKSCSK IQILKCGGTA
RSQNSREENK EALKNDIIFT NSVESLKSAH IKEPEREGKG TDLEKDKIGM EVKVDSDAGI
PKRQETQLKI SEMSIPQGQG AQIKKSVSDV PRGQESQVKK SESGVPKGQE AQVTKSGLVV
LKGQEAQVEK SEMGVPRRQE SQVKKSQSGV SKGQEAQVKK RESVVLKGQE AQVEKSELKV
PKGQEGQVEK TEADVPKEQE VQEKKSEAGV LKGPESQVKN TEVSVPETLE SQVKKSESGV
LKGQEAQEKK ESFEDKGNND KEKERDAEKD PNKKEKGDKN TKGDKGKDKV KGKRESEING
EKSKGSKRAK ANTGRKYNKK VEE*
mutated AA sequence MTVLEITLAV ILTLLGLAIL AILLTRWARC KQSEMHISRY SSEQSARLLD YEDGRGSRHA
YSTQSDTSYD NRERSKRDYT PSTNSLVSMA SKFSLGQTEL ILLLMCFILA LSRSSIGSIK
CLQTTEEPPS RTAGAMMQFT APIPGATGPI KLSQKTIVQT PGPIVQYPGS NAGPPSAPRG
PPMAPIIISQ RTARIPQVHT MDSSGKITLT PVVILTGYMD EELAKKSCSK IQILKCGGTA
RSQNSREENK EALKNDIIFT NSVESLKSAH IKEPEREGKG TDLEKDKIGM EVKVDSDAGI
PKRQETQLKI SEMSIPQGQG AQIKKSVSDV PRGQESQVKK SESGVPKGQE AQVTKSGLVV
LKGQEAQVEK SEMGVPRRQE SQVKKSQSGV SKGQEAQVKK RESVVLKGQE AQVEKSELKV
PKGQEGQVEK TEADVPKEQE VQEKKSEAGV LKGPESQVKN TEVSVPETLE SQVKKSESGV
LKGQEAQEKK ESFEDKGNND KEKERDAEKD PNKKEKGDKN TKGDKGKDKV KGKRESEING
EKSKGSKRAK ANTGRKYNKK VEE*
speed 0.69 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