Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999963789921 (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
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:32333955T>CN/A show variant in all transcripts   IGV
HGNC symbol TSBP1
Ensembl transcript ID ENST00000533191
Genbank transcript ID N/A
UniProt peptide Q5SRN2
alteration type single base exchange
alteration region CDS
DNA changes c.206A>G
cDNA.407A>G
g.5730A>G
AA changes Y69C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 69
frameshift no
known variant Reference ID: rs9268368
databasehomozygous (C/C)heterozygousallele carriers
1000G30710221329
ExAC106141153922153
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3050.334
0.030.323
(flanking)00.331
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased5729wt: 0.59 / mu: 0.85wt: TCAATTCTCTAGACACTTCATATGATAACCGAGGTAAGTAT
mu: TCAATTCTCTAGACACTTCATGTGATAACCGAGGTAAGTAT		 tcat|ATGA
Acc increased5724wt: 0.40 / mu: 0.48wt: TTTCTTCAATTCTCTAGACACTTCATATGATAACCGAGGTA
mu: TTTCTTCAATTCTCTAGACACTTCATGTGATAACCGAGGTA		 acac|TTCA
Acc marginally increased5731wt: 0.8651 / mu: 0.8766 (marginal change - not scored)wt: AATTCTCTAGACACTTCATATGATAACCGAGGTAAGTATAT
mu: AATTCTCTAGACACTTCATGTGATAACCGAGGTAAGTATAT		 atat|GATA
Acc marginally increased5720wt: 0.8604 / mu: 0.8792 (marginal change - not scored)wt: AATTTTTCTTCAATTCTCTAGACACTTCATATGATAACCGA
mu: AATTTTTCTTCAATTCTCTAGACACTTCATGTGATAACCGA		 ctag|ACAC
Donor gained57290.36mu: CTTCATGTGATAACC TCAT|gtga
Donor gained57240.73mu: AGACACTTCATGTGA ACAC|ttca
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      69RHAYSTQSDTSYDNRERSKRDYTP
mutated  not conserved    69YSTQSDTSCDNRERSKRDYT
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000018425  n/a
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000057246  63SHGRHKRRGKQFRFLC
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
99119TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
260260MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
326326MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
328328MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
474560COMPBIASLys-rich.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1686 / 1686
position (AA) of stopcodon in wt / mu AA sequence 562 / 562
position of stopcodon in wt / mu cDNA 1887 / 1887
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 202 / 202
chromosome 6
strand -1
last intron/exon boundary 833
theoretical NMD boundary in CDS 581
length of CDS 1686
coding sequence (CDS) position 206
cDNA position
(for ins/del: last normal base / first normal base)		 407
gDNA position
(for ins/del: last normal base / first normal base)		 5730
chromosomal position
(for ins/del: last normal base / first normal base)		 32333955
original gDNA sequence snippet CAATTCTCTAGACACTTCATATGATAACCGAGGTAAGTATA
altered gDNA sequence snippet CAATTCTCTAGACACTTCATGTGATAACCGAGGTAAGTATA
original cDNA sequence snippet AACACAAAGTGACACTTCATATGATAACCGAGAGAGATCCA
altered cDNA sequence snippet AACACAAAGTGACACTTCATGTGATAACCGAGAGAGATCCA
wildtype AA sequence MTVLEITLAV ILTLLGLAIL AILLTRWARC KQSEMYISRY SSEQSARLLD YEDGRGSRHA
YSTQSDTSYD NRERSKRDYT PSTNSLALSR SSIALPQGSM SSIKCLQTTE EPPSRTAGAM
MQFTAPIPGA TGPIKLSQKT IVQTPGPIVQ YPGSNAGPPS APRGPPMAPI IISQRTASQL
AAPIIISQRT ARIPQVHTMD SSGKITLTPV VILTGYMDEE LAKKSCSKIQ ILKCGGTARS
QNSREENKEA LKNDIIFTNS VESLKSAHIK EPEREGKGTD LEKDKIGMEV KVDSDAGIPK
RQETQLKISE MSIPQGQGAQ IKKSVSDVPR GQESQVKKSE SGVPKGQEAQ VTKSGLVVLK
GQEAQVEKSE MGVPRRQESQ VKKSQSGVSK GQEAQVKKRE SVVLKGQEAQ VEKSELKVPK
GQEGQVEKTE ADVPKEQEVQ EKKSEAGVLK GPESQVKNTE VSVPETLESQ VKKSESGVLK
GQEAQEKKES FEDKGNNDKE KERDAEKDPN KKEKGDKNTK GDKGKDKVKG KRESEINGEK
SKGSKRAKAN TGRKYNKKVE E*
mutated AA sequence MTVLEITLAV ILTLLGLAIL AILLTRWARC KQSEMYISRY SSEQSARLLD YEDGRGSRHA
YSTQSDTSCD NRERSKRDYT PSTNSLALSR SSIALPQGSM SSIKCLQTTE EPPSRTAGAM
MQFTAPIPGA TGPIKLSQKT IVQTPGPIVQ YPGSNAGPPS APRGPPMAPI IISQRTASQL
AAPIIISQRT ARIPQVHTMD SSGKITLTPV VILTGYMDEE LAKKSCSKIQ ILKCGGTARS
QNSREENKEA LKNDIIFTNS VESLKSAHIK EPEREGKGTD LEKDKIGMEV KVDSDAGIPK
RQETQLKISE MSIPQGQGAQ IKKSVSDVPR GQESQVKKSE SGVPKGQEAQ VTKSGLVVLK
GQEAQVEKSE MGVPRRQESQ VKKSQSGVSK GQEAQVKKRE SVVLKGQEAQ VEKSELKVPK
GQEGQVEKTE ADVPKEQEVQ EKKSEAGVLK GPESQVKNTE VSVPETLESQ VKKSESGVLK
GQEAQEKKES FEDKGNNDKE KERDAEKDPN KKEKGDKNTK GDKGKDKVKG KRESEINGEK
SKGSKRAKAN TGRKYNKKVE E*
speed 1.30 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