Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999771306254804 (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) chr2:218683154A>GN/A show variant in all transcripts   IGV
HGNC symbol TNS1
Ensembl transcript ID ENST00000430930
Genbank transcript ID N/A
UniProt peptide Q9HBL0
alteration type single base exchange
alteration region CDS
DNA changes c.3526T>C
cDNA.3688T>C
g.184565T>C
AA changes W1176R Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1176
frameshift no
known variant Reference ID: rs2571445
databasehomozygous (G/G)heterozygousallele carriers
1000G113210362168
ExAC23594-144219173
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.6151
1.0251
(flanking)0.4890.998
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased184560wt: 0.26 / mu: 0.36wt: CACTCCCCCTAGTCCTGGCTTCGGCTGGCGGGCCATCAATC
mu: CACTCCCCCTAGTCCTGGCTTCGGCCGGCGGGCCATCAATC		 gctt|CGGC
Acc marginally increased184566wt: 0.5616 / mu: 0.5949 (marginal change - not scored)wt: CCCTAGTCCTGGCTTCGGCTGGCGGGCCATCAATCCCAGCA
mu: CCCTAGTCCTGGCTTCGGCCGGCGGGCCATCAATCCCAGCA		 gctg|GCGG
Acc increased184562wt: 0.56 / mu: 0.69wt: CTCCCCCTAGTCCTGGCTTCGGCTGGCGGGCCATCAATCCC
mu: CTCCCCCTAGTCCTGGCTTCGGCCGGCGGGCCATCAATCCC		 ttcg|GCTG
Acc increased184557wt: 0.33 / mu: 0.42wt: CAACACTCCCCCTAGTCCTGGCTTCGGCTGGCGGGCCATCA
mu: CAACACTCCCCCTAGTCCTGGCTTCGGCCGGCGGGCCATCA		 ctgg|CTTC
Acc marginally increased184556wt: 0.5890 / mu: 0.6416 (marginal change - not scored)wt: CCAACACTCCCCCTAGTCCTGGCTTCGGCTGGCGGGCCATC
mu: CCAACACTCCCCCTAGTCCTGGCTTCGGCCGGCGGGCCATC		 cctg|GCTT
distance from splice site 329
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1176GTNTPPSPGFGWRAINPSMAAPSS
mutated  not conserved    1176GTNTPPSPGFGRRAINPSMAAPS
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000013785  1202FGRRAINPSMAAPS
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000055322  1351GTNTPPSPGFGRRAVN
Ggallus  not conserved  ENSGALG00000011462  1275-------------------ALPG
Trubripes  not conserved  ENSTRUG00000004813  1117PEQPIY--VIDHPNLKAIQ
Drerio  not conserved  ENSDARG00000020845  1228LSDMASVPNFQHRLANQDGPILGRQQ
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000005595  1300GTNTPPSPGFGRRMVT
protein features
start (aa)end (aa)featuredetails 
11771177MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11891189MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
11921192MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12541254MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
12661266MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
12691269MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12971297MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13141314MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13231323MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
13261326MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
13281328MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
13811381MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14041404MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
14121412CONFLICTS -> A (in Ref. 1; AAG33700).might get lost (downstream of altered splice site)
14161416CONFLICTA -> P (in Ref. 1; AAG33700).might get lost (downstream of altered splice site)
14461446MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14631572DOMAINSH2.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5145 / 5145
position (AA) of stopcodon in wt / mu AA sequence 1715 / 1715
position of stopcodon in wt / mu cDNA 5307 / 5307
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 5163
theoretical NMD boundary in CDS 4950
length of CDS 5145
coding sequence (CDS) position 3526
cDNA position
(for ins/del: last normal base / first normal base)		 3688
gDNA position
(for ins/del: last normal base / first normal base)		 184565
chromosomal position
(for ins/del: last normal base / first normal base)		 218683154
original gDNA sequence snippet CCCCTAGTCCTGGCTTCGGCTGGCGGGCCATCAATCCCAGC
altered gDNA sequence snippet CCCCTAGTCCTGGCTTCGGCCGGCGGGCCATCAATCCCAGC
original cDNA sequence snippet CCCCTAGTCCTGGCTTCGGCTGGCGGGCCATCAATCCCAGC
altered cDNA sequence snippet CCCCTAGTCCTGGCTTCGGCCGGCGGGCCATCAATCCCAGC
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 ADILLHPTGE PRSYVESVAR TAVAGPRAQD
SEPKSFSAPA TQAYGHEIPL RNGTLGGSFV SPSPLSTSSP ILSADSTSVG SFPSGESSDQ
GPRTPTQPLL ESGFRSGSLG QPSPSAQRNY QSSSPLPTVG SSYSSPDYSL QHFSSSPESQ
ARAQFSVAGV HTVPGSPQAR HRTVGTNTPP SPGFGWRAIN PSMAAPSSPS LSHHQMMGPP
GTGFHGSTVS SPQSSAATTP GSPSLCRHPA GVYQVSGLHN KVATTPGSPS LGRHPGAHQG
NLASGLHSNA IASPGSPSLG RHLGGSGSVV PGSPCLDRHV AYGGYSTPED RRPTLSRQSS
ASGYQAPSTP SFPVSPAYYP GLSSPATSPS PDSAAFRQGS PTPALPEKRR MSVGDRAGSL
PNYATINGKV SSPVASGMSS PSGGSTVSFS HTLPDFSKYS MPDNSPETRA KVKFVQDTSK
YWYKPEISRE QAIALLKDQE PGAFIIRDSH SFRGAYGLAM KVSSPPPTIM QQNKKGDMTH
ELVRHFLIET GPRGVKLKGC PNEPNFGSLS ALVYQHSIIP LALPCKLVIP NRDPTDESKD
SSGPANSTAD LLKQGAACNV LFVNSVDMES LTGPQAISKA TSETLAADPT PAATIVHFKV
SAQGITLTDN QRKLFFRRHY PLNTVTFCDL DPQERKWMKT EGGAPAKLFG FVARKQGSTT
DNACHLFAEL DPNQPASAIV NFVSKVMLNA GQKR*
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 ADILLHPTGE PRSYVESVAR TAVAGPRAQD
SEPKSFSAPA TQAYGHEIPL RNGTLGGSFV SPSPLSTSSP ILSADSTSVG SFPSGESSDQ
GPRTPTQPLL ESGFRSGSLG QPSPSAQRNY QSSSPLPTVG SSYSSPDYSL QHFSSSPESQ
ARAQFSVAGV HTVPGSPQAR HRTVGTNTPP SPGFGRRAIN PSMAAPSSPS LSHHQMMGPP
GTGFHGSTVS SPQSSAATTP GSPSLCRHPA GVYQVSGLHN KVATTPGSPS LGRHPGAHQG
NLASGLHSNA IASPGSPSLG RHLGGSGSVV PGSPCLDRHV AYGGYSTPED RRPTLSRQSS
ASGYQAPSTP SFPVSPAYYP GLSSPATSPS PDSAAFRQGS PTPALPEKRR MSVGDRAGSL
PNYATINGKV SSPVASGMSS PSGGSTVSFS HTLPDFSKYS MPDNSPETRA KVKFVQDTSK
YWYKPEISRE QAIALLKDQE PGAFIIRDSH SFRGAYGLAM KVSSPPPTIM QQNKKGDMTH
ELVRHFLIET GPRGVKLKGC PNEPNFGSLS ALVYQHSIIP LALPCKLVIP NRDPTDESKD
SSGPANSTAD LLKQGAACNV LFVNSVDMES LTGPQAISKA TSETLAADPT PAATIVHFKV
SAQGITLTDN QRKLFFRRHY PLNTVTFCDL DPQERKWMKT EGGAPAKLFG FVARKQGSTT
DNACHLFAEL DPNQPASAIV NFVSKVMLNA GQKR*
speed 0.43 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