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 ENST00000419504
Genbank transcript ID N/A
UniProt peptide Q9HBL0
alteration type single base exchange
alteration region CDS
DNA changes c.3010C>T
cDNA.3172C>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      1004ILLHPTGVTRRRIQPEPRSYVESV
mutated  not conserved    1004ILLHPTGVTRRWIQPEPRSYVES
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000013785  1010ILLHPTGVTRRCIQPEEDEGKV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000055322  1159ILLHPTGVARRLIQPEEDEGEEVTKPPEE
Ggallus  not conserved  ENSGALG00000011462  1105ELEGEAGADSEEEPRSYVES
Trubripes  not conserved  ENSTRUG00000004813  945KIFFNAGPRSYVES
Drerio  not conserved  ENSDARG00000020845  1087ILLNQTG-------SEPRSYVES
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000005595  1134IVLQQSG--------EPRSYVES
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5166 / 5166
position (AA) of stopcodon in wt / mu AA sequence 1722 / 1722
position of stopcodon in wt / mu cDNA 5328 / 5328
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 163 / 163
chromosome 2
strand -1
last intron/exon boundary 5184
theoretical NMD boundary in CDS 4971
length of CDS 5166
coding sequence (CDS) position 3010
cDNA position
(for ins/del: last normal base / first normal base)		 3172
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 CCACAGGAGTTACCAGAAGACGGATCCAGCCAGAGCCCCGG
altered cDNA sequence snippet CCACAGGAGTTACCAGAAGATGGATCCAGCCAGAGCCCCGG
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 TRRRIQPEPR SYVESVARTA
VAGPRAQDSE PKSFSAPATQ AYGHEIPLRN GTLGGSFVSP SPLSTSSPIL SADSTSVGSF
PSGESSDQGP RTPTQPLLES GFRSGSLGQP SPSAQRNYQS SSPLPTVGSS YSSPDYSLQH
FSSSPESQAR AQFSVAGVHT VPGSPQARHR TVGTNTPPSP GFGWRAINPS MAAPSSPSLS
HHQMMGPPGT GFHGSTVSSP QSSAATTPGS PSLCRHPAGV YQVSGLHNKV ATTPGSPSLG
RHPGAHQGNL ASGLHSNAIA SPGSPSLGRH LGGSGSVVPG SPCLDRHVAY GGYSTPEDRR
PTLSRQSSAS GYQAPSTPSF PVSPAYYPGL SSPATSPSPD SAAFRQGSPT PALPEKRRMS
VGDRAGSLPN YATINGKVSS PVASGMSSPS GGSTVSFSHT LPDFSKYSMP DNSPETRAKV
KFVQDTSKYW YKPEISREQA IALLKDQEPG AFIIRDSHSF RGAYGLAMKV SSPPPTIMQQ
NKKDMTHELV RHFLIETGPR GVKLKGCPNE PNFGSLSALV YQHSIIPLAL PCKLVIPNRD
PTDESKDSSG PANSTADLLK QGAACNVLFV NSVDMESLTG PQAISKATSE TLAADPTPAA
TIVHFKVSAQ GITLTDNQRK LFFRRHYPLN TVTFCDLDPQ ERKWMKTEGG APAKLFGFVA
RKQGSTTDNA CHLFAELDPN QPASAIVNFV SKVMLNAGQK R*
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 TRRWIQPEPR SYVESVARTA
VAGPRAQDSE PKSFSAPATQ AYGHEIPLRN GTLGGSFVSP SPLSTSSPIL SADSTSVGSF
PSGESSDQGP RTPTQPLLES GFRSGSLGQP SPSAQRNYQS SSPLPTVGSS YSSPDYSLQH
FSSSPESQAR AQFSVAGVHT VPGSPQARHR TVGTNTPPSP GFGWRAINPS MAAPSSPSLS
HHQMMGPPGT GFHGSTVSSP QSSAATTPGS PSLCRHPAGV YQVSGLHNKV ATTPGSPSLG
RHPGAHQGNL ASGLHSNAIA SPGSPSLGRH LGGSGSVVPG SPCLDRHVAY GGYSTPEDRR
PTLSRQSSAS GYQAPSTPSF PVSPAYYPGL SSPATSPSPD SAAFRQGSPT PALPEKRRMS
VGDRAGSLPN YATINGKVSS PVASGMSSPS GGSTVSFSHT LPDFSKYSMP DNSPETRAKV
KFVQDTSKYW YKPEISREQA IALLKDQEPG AFIIRDSHSF RGAYGLAMKV SSPPPTIMQQ
NKKDMTHELV RHFLIETGPR GVKLKGCPNE PNFGSLSALV YQHSIIPLAL PCKLVIPNRD
PTDESKDSSG PANSTADLLK QGAACNVLFV NSVDMESLTG PQAISKATSE TLAADPTPAA
TIVHFKVSAQ GITLTDNQRK LFFRRHYPLN TVTFCDLDPQ ERKWMKTEGG APAKLFGFVA
RKQGSTTDNA CHLFAELDPN QPASAIVNFV SKVMLNAGQK R*
speed 1.08 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