Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999981416957724 (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) chr2:218695102G>AN/A show variant in all transcripts   IGV
HGNC symbol TNS1
Ensembl transcript ID ENST00000171887
Genbank transcript ID NM_022648
UniProt peptide Q9HBL0
alteration type single base exchange
alteration region CDS
DNA changes c.3010C>T
cDNA.3463C>T
g.172617C>T
AA changes R1004W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1004
frameshift no
known variant Reference ID: rs3796028
databasehomozygous (A/A)heterozygousallele carriers
1000G37311341507
ExAC79271691324840
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.520.982
-0.2240.976
(flanking)1.0760.995
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 increased172607wt: 0.8938 / mu: 0.9000 (marginal change - not scored)wt: ACTTTACTTTTTTCCTTAGTTACCAGAAGACGGATCCAGCC
mu: ACTTTACTTTTTTCCTTAGTTACCAGAAGATGGATCCAGCC		 agtt|ACCA
distance from splice site 12
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1004ILLHPTGVTRRRIQPEEDEGKVVV
mutated  not conserved    1004ILLHPTGVTRRWIQPEEDEGKVV
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000013785  1010ILLHPTGVTRRCIQPEEDEGKV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000055322  1159ILLHPTGVARRLIQPEEDEGEEV
Ggallus  not conserved  ENSGALG00000011462  1105---------ELEGEAG
Trubripes  not conserved  ENSTRUG00000004813  944K------------
Drerio  not conserved  ENSDARG00000020845  1087ILLNQTG----------------
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000005595  1134IVLQQSG----------------
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5208 / 5208
position (AA) of stopcodon in wt / mu AA sequence 1736 / 1736
position of stopcodon in wt / mu cDNA 5661 / 5661
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 454 / 454
chromosome 2
strand -1
last intron/exon boundary 5517
theoretical NMD boundary in CDS 5013
length of CDS 5208
coding sequence (CDS) position 3010
cDNA position
(for ins/del: last normal base / first normal base)		 3463
gDNA position
(for ins/del: last normal base / first normal base)		 172617
chromosomal position
(for ins/del: last normal base / first normal base)		 218695102
original gDNA sequence snippet TTTCCTTAGTTACCAGAAGACGGATCCAGCCAGGTAGGTGG
altered gDNA sequence snippet TTTCCTTAGTTACCAGAAGATGGATCCAGCCAGGTAGGTGG
original cDNA sequence snippet CCACAGGAGTTACCAGAAGACGGATCCAGCCAGAGGAAGAT
altered cDNA sequence snippet CCACAGGAGTTACCAGAAGATGGATCCAGCCAGAGGAAGAT
wildtype AA sequence MSVSRTMEDS CELDLVYVTE RIIAVSFPST ANEENFRSNL REVAQMLKSK HGGNYLLFNL
SERRPDITKL HAKVLEFGWP DLHTPALEKI CSICKAMDTW LNADPHNVVV LHNKGNRGRI
GVVIAAYMHY SNISASADQA LDRFAMKRFY EDKIVPIGQP SQRRYVHYFS GLLSGSIKMN
NKPLFLHHVI MHGIPNFESK GGCRPFLRIY QAMQPVYTSG IYNIPGDSQT SVCITIEPGL
LLKGDILLKC YHKKFRSPAR DVIFRVQFHT CAIHDLGVVF GKEDLDDAFK DDRFPEYGKV
EFVFSYGPEK IQGMEHLENG PSVSVDYNTS DPLIRWDSYD NFSGHRDDGM EEVVGHTQGP
LDGSLYAKVK KKDSLHGSTG AVNATRPTLS ATPNHVEHTL SVSSDSGNST ASTKTDKTDE
PVPGASSATA ALSPQEKREL DRLLSGFGLE REKQGAMYHT QHLRSRPAGG SAVPSSGRHV
VPAQVHVNGG ALASERETDI LDDELPNQDG HSAGSMGTLS SLDGVTNTSE GGYPEALSPL
TNGLDKSYPM EPMVNGGGYP YESASRAGPA HAGHTAPMRP SYSAQEGLAG YQREGPHPAW
PQPVTTSHYA HDPSGMFRSQ SFSEAEPQLP PAPVRGGSSR EAVQRGLNSW QQQQQQQQQP
RPPPRQQERA HLESLVASRP SPQPLAETPI PSLPEFPRAA SQQEIEQSIE TLNMLMLDLE
PASAAAPLHK SQSVPGAWPG ASPLSSQPLS GSSRQSHPLT QSRSGYIPSG HSLGTPEPAP
RASLESVPPG RSYSPYDYQP CLAGPNQDFH SKSPASSSLP AFLPTTHSPP GPQQPPASLP
GLTAQPLLSP KEATSDPSRT PEEEPLNLEG LVAHRVAGVQ AREKQPAEPP APLRRRAASD
GQYENQSPEA TSPRSPGVRS PVQCVSPELA LTIALNPGGR PKEPHLHSYK EAFEEMEGTS
PSSPPPSGVR SPPGLAKTPL SALGLKPHNP ADILLHPTGV TRRRIQPEED EGKVVVRLSE
EPRSYVESVA RTAVAGPRAQ DSEPKSFSAP ATQAYGHEIP LRNGTLGGSF VSPSPLSTSS
PILSADSTSV GSFPSGESSD QGPRTPTQPL LESGFRSGSL GQPSPSAQRN YQSSSPLPTV
GSSYSSPDYS LQHFSSSPES QARAQFSVAG VHTVPGSPQA RHRTVGTNTP PSPGFGWRAI
NPSMAAPSSP SLSHHQMMGP PGTGFHGSTV SSPQSSAATT PGSPSLCRHP AGVYQVSGLH
NKVATTPGSP SLGRHPGAHQ GNLASGLHSN AIASPGSPSL GRHLGGSGSV VPGSPCLDRH
VAYGGYSTPE DRRPTLSRQS SASGYQAPST PSFPVSPAYY PGLSSPATSP SPDSAAFRQG
SPTPALPEKR RMSVGDRAGS LPNYATINGK VSSPVASGMS SPSGGSTVSF SHTLPDFSKY
SMPDNSPETR AKVKFVQDTS KYWYKPEISR EQAIALLKDQ EPGAFIIRDS HSFRGAYGLA
MKVSSPPPTI MQQNKKGDMT HELVRHFLIE TGPRGVKLKG CPNEPNFGSL SALVYQHSII
PLALPCKLVI PNRDPTDESK DSSGPANSTA DLLKQGAACN VLFVNSVDME SLTGPQAISK
ATSETLAADP TPAATIVHFK VSAQGITLTD NQRKLFFRRH YPLNTVTFCD LDPQERKWMK
TEGGAPAKLF GFVARKQGST TDNACHLFAE LDPNQPASAI VNFVSKVMLN AGQKR*
mutated AA sequence MSVSRTMEDS CELDLVYVTE RIIAVSFPST ANEENFRSNL REVAQMLKSK HGGNYLLFNL
SERRPDITKL HAKVLEFGWP DLHTPALEKI CSICKAMDTW LNADPHNVVV LHNKGNRGRI
GVVIAAYMHY SNISASADQA LDRFAMKRFY EDKIVPIGQP SQRRYVHYFS GLLSGSIKMN
NKPLFLHHVI MHGIPNFESK GGCRPFLRIY QAMQPVYTSG IYNIPGDSQT SVCITIEPGL
LLKGDILLKC YHKKFRSPAR DVIFRVQFHT CAIHDLGVVF GKEDLDDAFK DDRFPEYGKV
EFVFSYGPEK IQGMEHLENG PSVSVDYNTS DPLIRWDSYD NFSGHRDDGM EEVVGHTQGP
LDGSLYAKVK KKDSLHGSTG AVNATRPTLS ATPNHVEHTL SVSSDSGNST ASTKTDKTDE
PVPGASSATA ALSPQEKREL DRLLSGFGLE REKQGAMYHT QHLRSRPAGG SAVPSSGRHV
VPAQVHVNGG ALASERETDI LDDELPNQDG HSAGSMGTLS SLDGVTNTSE GGYPEALSPL
TNGLDKSYPM EPMVNGGGYP YESASRAGPA HAGHTAPMRP SYSAQEGLAG YQREGPHPAW
PQPVTTSHYA HDPSGMFRSQ SFSEAEPQLP PAPVRGGSSR EAVQRGLNSW QQQQQQQQQP
RPPPRQQERA HLESLVASRP SPQPLAETPI PSLPEFPRAA SQQEIEQSIE TLNMLMLDLE
PASAAAPLHK SQSVPGAWPG ASPLSSQPLS GSSRQSHPLT QSRSGYIPSG HSLGTPEPAP
RASLESVPPG RSYSPYDYQP CLAGPNQDFH SKSPASSSLP AFLPTTHSPP GPQQPPASLP
GLTAQPLLSP KEATSDPSRT PEEEPLNLEG LVAHRVAGVQ AREKQPAEPP APLRRRAASD
GQYENQSPEA TSPRSPGVRS PVQCVSPELA LTIALNPGGR PKEPHLHSYK EAFEEMEGTS
PSSPPPSGVR SPPGLAKTPL SALGLKPHNP ADILLHPTGV TRRWIQPEED EGKVVVRLSE
EPRSYVESVA RTAVAGPRAQ DSEPKSFSAP ATQAYGHEIP LRNGTLGGSF VSPSPLSTSS
PILSADSTSV GSFPSGESSD QGPRTPTQPL LESGFRSGSL GQPSPSAQRN YQSSSPLPTV
GSSYSSPDYS LQHFSSSPES QARAQFSVAG VHTVPGSPQA RHRTVGTNTP PSPGFGWRAI
NPSMAAPSSP SLSHHQMMGP PGTGFHGSTV SSPQSSAATT PGSPSLCRHP AGVYQVSGLH
NKVATTPGSP SLGRHPGAHQ GNLASGLHSN AIASPGSPSL GRHLGGSGSV VPGSPCLDRH
VAYGGYSTPE DRRPTLSRQS SASGYQAPST PSFPVSPAYY PGLSSPATSP SPDSAAFRQG
SPTPALPEKR RMSVGDRAGS LPNYATINGK VSSPVASGMS SPSGGSTVSF SHTLPDFSKY
SMPDNSPETR AKVKFVQDTS KYWYKPEISR EQAIALLKDQ EPGAFIIRDS HSFRGAYGLA
MKVSSPPPTI MQQNKKGDMT HELVRHFLIE TGPRGVKLKG CPNEPNFGSL SALVYQHSII
PLALPCKLVI PNRDPTDESK DSSGPANSTA DLLKQGAACN VLFVNSVDME SLTGPQAISK
ATSETLAADP TPAATIVHFK VSAQGITLTD NQRKLFFRRH YPLNTVTFCD LDPQERKWMK
TEGGAPAKLF GFVARKQGST TDNACHLFAE LDPNQPASAI VNFVSKVMLN AGQKR*
speed 1.18 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