Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 3 transcript(s)...
Querying Taster for transcript #1: ENST00000361577
Querying Taster for transcript #2: ENST00000361462
Querying Taster for transcript #3: ENST00000382233
MT speed 0 s - this script 2.578763 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
TOGARAM1polymorphism_automatic0.000171416505977962simple_aaeaffectedE416Qsingle base exchangers3825629show file
TOGARAM1polymorphism_automatic0.000171416505977962simple_aaeaffectedE416Qsingle base exchangers3825629show file
TOGARAM1polymorphism_automatic0.000296770241137945simple_aaeaffectedE416Qsingle base exchangers3825629show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999828583494022 (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) chr14:45432870G>CN/A show variant in all transcripts   IGV
HGNC symbol TOGARAM1
Ensembl transcript ID ENST00000361577
Genbank transcript ID NM_015091
UniProt peptide Q9Y4F4
alteration type single base exchange
alteration region CDS
DNA changes c.1246G>C
cDNA.1460G>C
g.1460G>C
AA changes E416Q Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 416
frameshift no
known variant Reference ID: rs3825629
databasehomozygous (C/C)heterozygousallele carriers
1000G162619781
ExAC1194999011184
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0470.995
1.6151
(flanking)4.5591
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased1462wt: 0.50 / mu: 0.76wt: CTTGAAGTCCTGCAT
mu: CTTCAAGTCCTGCAT		 TGAA|gtcc
distance from splice site 801
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      416DSNFKVVHGTLEVLHLLVIRLGEQ
mutated  all conserved    416DSNFKVVHGTLQVLHL
Ptroglodytes  all conserved  ENSPTRG00000023162  416DSNFKVVHGTLQVLHL
Mmulatta  all conserved  ENSMMUG00000010860  416DSNFKVVHGTLQVLHL
Fcatus  no alignment  ENSFCAG00000018384  n/a
Mmusculus  all conserved  ENSMUSG00000035614  415DSNFKVVHGTLQVLHL
Ggallus  all identical  ENSGALG00000012474  9FAVVLGALEAAQLLALRLGG
Trubripes  no alignment  ENSTRUG00000012385  n/a
Drerio  no alignment  ENSDARG00000039197  n/a
Dmelanogaster  no alignment  FBgn0259818  n/a
Celegans  all conserved  B0024.8  332DLNFKVVVLALDIV
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
390427REPEATHEAT 2.lost
466504REPEATHEAT 3.might get lost (downstream of altered splice site)
477477CONFLICTE -> K (in Ref. 1; BAA24853).might get lost (downstream of altered splice site)
506543REPEATHEAT 4.might get lost (downstream of altered splice site)
9711129COMPBIASSer-rich.might get lost (downstream of altered splice site)
992992CONFLICTS -> L (in Ref. 1; BAA24853).might get lost (downstream of altered splice site)
10551055MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15261563REPEATHEAT 5.might get lost (downstream of altered splice site)
15671605REPEATHEAT 6.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5163 / 5163
position (AA) of stopcodon in wt / mu AA sequence 1721 / 1721
position of stopcodon in wt / mu cDNA 5377 / 5377
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 215 / 215
chromosome 14
strand 1
last intron/exon boundary 5112
theoretical NMD boundary in CDS 4847
length of CDS 5163
coding sequence (CDS) position 1246
cDNA position
(for ins/del: last normal base / first normal base)		 1460
gDNA position
(for ins/del: last normal base / first normal base)		 1460
chromosomal position
(for ins/del: last normal base / first normal base)		 45432870
original gDNA sequence snippet AAGTGGTGCATGGCACACTTGAAGTCCTGCATTTACTGGTT
altered gDNA sequence snippet AAGTGGTGCATGGCACACTTCAAGTCCTGCATTTACTGGTT
original cDNA sequence snippet AAGTGGTGCATGGCACACTTGAAGTCCTGCATTTACTGGTT
altered cDNA sequence snippet AAGTGGTGCATGGCACACTTCAAGTCCTGCATTTACTGGTT
wildtype AA sequence MAAAPSALLL LPPFPVLSTY RLQSRSRPSA PETDDSRVGG IMRGEKNYYF RGAAGDHGSC
PTTTSPLASA LLMPSEAVSS SWSESGGGLS GGDEEDTRLL QLLRTARDPS EAFQALQAAL
PRRGGRLGFP RRKEALYRAL GRVLVEGGSD EKRLCLQLLS DVLRGQGEAG QLEEAFSLAL
LPQLVVSLRE ENPALRKDAL QILHICLKRS PGEVLRTLIQ QGLESTDARL RASTALLLPI
LLTTEDLLLG LDLTEVIISL ARKLGDQETE EESETAFSAL QQIGERLGQD RFQSYISRLP
SALRRHYNRR LESQFGSQVP YYLELEASGF PEDPLPCAVT LSNSNLKFGI IPQELHSRLL
DQEDYKNRTQ AVEELKQVLG KFNPSSTPHS SLVGFISLLY NLLDDSNFKV VHGTLEVLHL
LVIRLGEQVQ QFLGPVIAAS VKVLADNKLV IKQEYMKIFL KLMKEVGPQQ VLCLLLEHLK
HKHSRVREEV VNICICSLLT YPSEDFDLPK LSFDLAPALV DSKRRVRQAA LEAFAVLASS
MGSGKTSILF KAVDTVELQD NGDGVMNAVQ ARLARKTLPR LTEQGFVEYA VLMPSSAGGR
SNHLAHGADT DWLLAGNRTQ SAHCHCGDHV RDSMHIYGSY SPTICTRRVL SAGKGKNKLP
WENEQPGIMG ENQTSTSKDI EQFSTYDFIP SAKLKLSQGM PVNDDLCFSR KRVSRNLFQN
SRDFNPDCLP LCAAGTTGTH QTNLSGKCAQ LGFSQICGKT GSVGSDLQFL GTTSSHQEKV
YASLNFGSKT QQTFGSQTEC TSSNGQNPSP GAYILPSYPV SSPRTSPKHT SPLIISPKKS
QDNSVNFSNS WPLKSFEGLS KPSPQKKLVS QKSSDPTGRN HGENSQEKPP VQLTPALVRS
PSSRRGLNGT KPVPPIPRGI SLLPDKADLS TVGHKKKEPD DIWKCEKDSL PIDLSELNFK
DKDLDQEEMH SSLRSLRNSA AKKRAKLSGS TSDLESPDSA MKLDLTMDSP SLSSSPNINS
YSESGVYSQE SLTSSLSTTP QGKRIMSDIF PTFGSKPCPT RLSSAKKKIS HIAEQSPSAG
SSSNPQQISS FDFTTTKALS EDSVVVVGKG VFGSLSSAPA TCSQSVISSV ENGDTFSIKQ
SIEPPSGIYG RSVQQNISSY LDVENEKDAK VSISKSTYNK MRQKRKEEKE LFHNKDCEKK
EKNSWERMRH TGTEKMASES ETPTGAISQY KERMPSVTHS PEIMDLSELR PFSKPEIALT
EALRLLADED WEKKIEGLNF IRCLAAFHSE ILNTKLHETN FAVVQEVKNL RSGVSRAAVV
CLSDLFTYLK KSMDQELDTT VKVLLHKAGE SNTFIREDVD KALRAMVNNV TPARAVVSLI
NGGQRYYGRK MLFFMMCHPN FEKMLEKYVP SKDLPYIKDS VRNLQQKGLG EIPLDTPSAK
GRRSHTGSVG NTRSSSVSRD AFNSAERAVT EVREVTRKSV PRNSLESAEY LKLITGLLNA
KDFRDRINGI KQLLSDTENN QDLVVGNIVK IFDAFKSRLH DSNSKVNLVA LETMHKMIPL
LRDHLSPIIN MLIPAIVDNN LNSKNPGIYA AATNVVQALS QHVDNYLLLQ PFCTKAQFLN
GKAKQDMTEK LADIVTELYQ RKPHATEQKV LVVLWHLLGN MTNSGSLPGA GGNIRTATAK
LSKALFAQMG QNLLNQAASQ PPHIKKSLEE LLDMTILNEL *
mutated AA sequence MAAAPSALLL LPPFPVLSTY RLQSRSRPSA PETDDSRVGG IMRGEKNYYF RGAAGDHGSC
PTTTSPLASA LLMPSEAVSS SWSESGGGLS GGDEEDTRLL QLLRTARDPS EAFQALQAAL
PRRGGRLGFP RRKEALYRAL GRVLVEGGSD EKRLCLQLLS DVLRGQGEAG QLEEAFSLAL
LPQLVVSLRE ENPALRKDAL QILHICLKRS PGEVLRTLIQ QGLESTDARL RASTALLLPI
LLTTEDLLLG LDLTEVIISL ARKLGDQETE EESETAFSAL QQIGERLGQD RFQSYISRLP
SALRRHYNRR LESQFGSQVP YYLELEASGF PEDPLPCAVT LSNSNLKFGI IPQELHSRLL
DQEDYKNRTQ AVEELKQVLG KFNPSSTPHS SLVGFISLLY NLLDDSNFKV VHGTLQVLHL
LVIRLGEQVQ QFLGPVIAAS VKVLADNKLV IKQEYMKIFL KLMKEVGPQQ VLCLLLEHLK
HKHSRVREEV VNICICSLLT YPSEDFDLPK LSFDLAPALV DSKRRVRQAA LEAFAVLASS
MGSGKTSILF KAVDTVELQD NGDGVMNAVQ ARLARKTLPR LTEQGFVEYA VLMPSSAGGR
SNHLAHGADT DWLLAGNRTQ SAHCHCGDHV RDSMHIYGSY SPTICTRRVL SAGKGKNKLP
WENEQPGIMG ENQTSTSKDI EQFSTYDFIP SAKLKLSQGM PVNDDLCFSR KRVSRNLFQN
SRDFNPDCLP LCAAGTTGTH QTNLSGKCAQ LGFSQICGKT GSVGSDLQFL GTTSSHQEKV
YASLNFGSKT QQTFGSQTEC TSSNGQNPSP GAYILPSYPV SSPRTSPKHT SPLIISPKKS
QDNSVNFSNS WPLKSFEGLS KPSPQKKLVS QKSSDPTGRN HGENSQEKPP VQLTPALVRS
PSSRRGLNGT KPVPPIPRGI SLLPDKADLS TVGHKKKEPD DIWKCEKDSL PIDLSELNFK
DKDLDQEEMH SSLRSLRNSA AKKRAKLSGS TSDLESPDSA MKLDLTMDSP SLSSSPNINS
YSESGVYSQE SLTSSLSTTP QGKRIMSDIF PTFGSKPCPT RLSSAKKKIS HIAEQSPSAG
SSSNPQQISS FDFTTTKALS EDSVVVVGKG VFGSLSSAPA TCSQSVISSV ENGDTFSIKQ
SIEPPSGIYG RSVQQNISSY LDVENEKDAK VSISKSTYNK MRQKRKEEKE LFHNKDCEKK
EKNSWERMRH TGTEKMASES ETPTGAISQY KERMPSVTHS PEIMDLSELR PFSKPEIALT
EALRLLADED WEKKIEGLNF IRCLAAFHSE ILNTKLHETN FAVVQEVKNL RSGVSRAAVV
CLSDLFTYLK KSMDQELDTT VKVLLHKAGE SNTFIREDVD KALRAMVNNV TPARAVVSLI
NGGQRYYGRK MLFFMMCHPN FEKMLEKYVP SKDLPYIKDS VRNLQQKGLG EIPLDTPSAK
GRRSHTGSVG NTRSSSVSRD AFNSAERAVT EVREVTRKSV PRNSLESAEY LKLITGLLNA
KDFRDRINGI KQLLSDTENN QDLVVGNIVK IFDAFKSRLH DSNSKVNLVA LETMHKMIPL
LRDHLSPIIN MLIPAIVDNN LNSKNPGIYA AATNVVQALS QHVDNYLLLQ PFCTKAQFLN
GKAKQDMTEK LADIVTELYQ RKPHATEQKV LVVLWHLLGN MTNSGSLPGA GGNIRTATAK
LSKALFAQMG QNLLNQAASQ PPHIKKSLEE LLDMTILNEL *
speed 0.11 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999828583494022 (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) chr14:45432870G>CN/A show variant in all transcripts   IGV
HGNC symbol TOGARAM1
Ensembl transcript ID ENST00000361462
Genbank transcript ID N/A
UniProt peptide Q9Y4F4
alteration type single base exchange
alteration region CDS
DNA changes c.1246G>C
cDNA.1429G>C
g.1460G>C
AA changes E416Q Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 416
frameshift no
known variant Reference ID: rs3825629
databasehomozygous (C/C)heterozygousallele carriers
1000G162619781
ExAC1194999011184
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0470.995
1.6151
(flanking)4.5591
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased1462wt: 0.50 / mu: 0.76wt: CTTGAAGTCCTGCAT
mu: CTTCAAGTCCTGCAT		 TGAA|gtcc
distance from splice site 801
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      416DSNFKVVHGTLEVLHLLVIRLGEQ
mutated  all conserved    416DSNFKVVHGTLQVLHL
Ptroglodytes  all conserved  ENSPTRG00000023162  416DSNFKVVHGTLQVLHL
Mmulatta  all conserved  ENSMMUG00000010860  416DSNFKVVHGTLQVLHL
Fcatus  no alignment  ENSFCAG00000018384  n/a
Mmusculus  all conserved  ENSMUSG00000035614  415DSNFKVVHGTLQVLHL
Ggallus  all identical  ENSGALG00000012474  9FAVVLGALEAAQLLALRLGG
Trubripes  no alignment  ENSTRUG00000012385  n/a
Drerio  no alignment  ENSDARG00000039197  n/a
Dmelanogaster  no alignment  FBgn0259818  n/a
Celegans  all conserved  B0024.8  332DLNFKVVVLALDIV
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
390427REPEATHEAT 2.lost
466504REPEATHEAT 3.might get lost (downstream of altered splice site)
477477CONFLICTE -> K (in Ref. 1; BAA24853).might get lost (downstream of altered splice site)
506543REPEATHEAT 4.might get lost (downstream of altered splice site)
9711129COMPBIASSer-rich.might get lost (downstream of altered splice site)
992992CONFLICTS -> L (in Ref. 1; BAA24853).might get lost (downstream of altered splice site)
10551055MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15261563REPEATHEAT 5.might get lost (downstream of altered splice site)
15671605REPEATHEAT 6.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5322 / 5322
position (AA) of stopcodon in wt / mu AA sequence 1774 / 1774
position of stopcodon in wt / mu cDNA 5505 / 5505
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 184 / 184
chromosome 14
strand 1
last intron/exon boundary 5240
theoretical NMD boundary in CDS 5006
length of CDS 5322
coding sequence (CDS) position 1246
cDNA position
(for ins/del: last normal base / first normal base)		 1429
gDNA position
(for ins/del: last normal base / first normal base)		 1460
chromosomal position
(for ins/del: last normal base / first normal base)		 45432870
original gDNA sequence snippet AAGTGGTGCATGGCACACTTGAAGTCCTGCATTTACTGGTT
altered gDNA sequence snippet AAGTGGTGCATGGCACACTTCAAGTCCTGCATTTACTGGTT
original cDNA sequence snippet AAGTGGTGCATGGCACACTTGAAGTCCTGCATTTACTGGTT
altered cDNA sequence snippet AAGTGGTGCATGGCACACTTCAAGTCCTGCATTTACTGGTT
wildtype AA sequence MAAAPSALLL LPPFPVLSTY RLQSRSRPSA PETDDSRVGG IMRGEKNYYF RGAAGDHGSC
PTTTSPLASA LLMPSEAVSS SWSESGGGLS GGDEEDTRLL QLLRTARDPS EAFQALQAAL
PRRGGRLGFP RRKEALYRAL GRVLVEGGSD EKRLCLQLLS DVLRGQGEAG QLEEAFSLAL
LPQLVVSLRE ENPALRKDAL QILHICLKRS PGEVLRTLIQ QGLESTDARL RASTALLLPI
LLTTEDLLLG LDLTEVIISL ARKLGDQETE EESETAFSAL QQIGERLGQD RFQSYISRLP
SALRRHYNRR LESQFGSQVP YYLELEASGF PEDPLPCAVT LSNSNLKFGI IPQELHSRLL
DQEDYKNRTQ AVEELKQVLG KFNPSSTPHS SLVGFISLLY NLLDDSNFKV VHGTLEVLHL
LVIRLGEQVQ QFLGPVIAAS VKVLADNKLV IKQEYMKIFL KLMKEVGPQQ VLCLLLEHLK
HKHSRVREEV VNICICSLLT YPSEDFDLPK LSFDLAPALV DSKRRVRQAA LEAFAVLASS
MGSGKTSILF KAVDTVELQD NGDGVMNAVQ ARLARKTLPR LTEQGFVEYA VLMPSSAGGR
SNHLAHGADT DWLLAGNRTQ SAHCHCGDHV RDSMHIYGSY SPTICTRRVL SAGKGKNKLP
WENEQPGIMG ENQTSTSKDI EQFSTYDFIP SAKLKLSQGM PVNDDLCFSR KRVSRNLFQN
SRDFNPDCLP LCAAGTTGTH QTNLSGKCAQ LGFSQICGKT GSVGSDLQFL GTTSSHQEKV
YASLNFGSKT QQTFGSQTEC TSSNGQNPSP GAYILPSYPV SSPRTSPKHT SPLIISPKKS
QDNSVNFSNS WPLKSFEGLS KPSPQKKLVS QKSSDPTGRN HGENSQEKPP VQLTPALVRS
PSSRRGLNGT KPVPPIPRGI SLLPDKADLS TVGHKKKEPD DIWKCEKDSL PIDLSELNFK
DKDLDQEEMH SSLRSLRNSA AKKRAKLSGS TSDLESPDSA MKLDLTMDSP SLSSSPNINS
YSESGVYSQE SLTSSLSTTP QGKRIMSDIF PTFGSKPCPT RLSSAKKKIS HIAEQSPSAG
SSSNPQQISS FDFTTTKALS EDSVVVVGKG VFGSLSSAPA TCSQSVISSV ENGDTFSIKQ
SIEPPSGIYG RSVQQNISSY LDVENEKDAK VSISKSTYNK MRQKRKEEKE LFHNKDCEKK
EKNSWERMRH TGTEKMASES ETPTGAISQY KERMPSVTHS PEIMDLSELR PFSKPEIALT
EALRLLADED WEKKIEGLNF IRCLAAFHSE ILNTKLHETN FAVVQEVKNL RSGVSRAAVV
CLSDLFTYLK KSMDQELDTT VKVLLHKAGE SNTFIREDVD KALRAMVNNV TPARAVVSLI
NGGQSHLHIA VRRCTAQHLS DVLEFMEPER ILSAAKDMAE RILPAAAKFA QDSSQETRYY
GRKMLFFMMC HPNFEKMLEK YVPSKDLPYI KDSVRNLQQK GLGEIPLDTP SAKGRRSHTG
SVGNTRSSSV SRDAFNSAER AVTEVREVTR KSVPRNSLES AEYLKLITGL LNAKDFRDRI
NGIKQLLSDT ENNQDLVVGN IVKIFDAFKS RLHDSNSKVN LVALETMHKM IPLLRDHLSP
IINMLIPAIV DNNLNSKNPG IYAAATNVVQ ALSQHVDNYL LLQPFCTKAQ FLNGKAKQDM
TEKLADIVTE LYQRKPHATE QKVLVVLWHL LGNMTNSGSL PGAGGNIRTA TAKLSKALFA
QMGQNLLNQA ASQPPHIKKS LEELLDMTIL NEL*
mutated AA sequence MAAAPSALLL LPPFPVLSTY RLQSRSRPSA PETDDSRVGG IMRGEKNYYF RGAAGDHGSC
PTTTSPLASA LLMPSEAVSS SWSESGGGLS GGDEEDTRLL QLLRTARDPS EAFQALQAAL
PRRGGRLGFP RRKEALYRAL GRVLVEGGSD EKRLCLQLLS DVLRGQGEAG QLEEAFSLAL
LPQLVVSLRE ENPALRKDAL QILHICLKRS PGEVLRTLIQ QGLESTDARL RASTALLLPI
LLTTEDLLLG LDLTEVIISL ARKLGDQETE EESETAFSAL QQIGERLGQD RFQSYISRLP
SALRRHYNRR LESQFGSQVP YYLELEASGF PEDPLPCAVT LSNSNLKFGI IPQELHSRLL
DQEDYKNRTQ AVEELKQVLG KFNPSSTPHS SLVGFISLLY NLLDDSNFKV VHGTLQVLHL
LVIRLGEQVQ QFLGPVIAAS VKVLADNKLV IKQEYMKIFL KLMKEVGPQQ VLCLLLEHLK
HKHSRVREEV VNICICSLLT YPSEDFDLPK LSFDLAPALV DSKRRVRQAA LEAFAVLASS
MGSGKTSILF KAVDTVELQD NGDGVMNAVQ ARLARKTLPR LTEQGFVEYA VLMPSSAGGR
SNHLAHGADT DWLLAGNRTQ SAHCHCGDHV RDSMHIYGSY SPTICTRRVL SAGKGKNKLP
WENEQPGIMG ENQTSTSKDI EQFSTYDFIP SAKLKLSQGM PVNDDLCFSR KRVSRNLFQN
SRDFNPDCLP LCAAGTTGTH QTNLSGKCAQ LGFSQICGKT GSVGSDLQFL GTTSSHQEKV
YASLNFGSKT QQTFGSQTEC TSSNGQNPSP GAYILPSYPV SSPRTSPKHT SPLIISPKKS
QDNSVNFSNS WPLKSFEGLS KPSPQKKLVS QKSSDPTGRN HGENSQEKPP VQLTPALVRS
PSSRRGLNGT KPVPPIPRGI SLLPDKADLS TVGHKKKEPD DIWKCEKDSL PIDLSELNFK
DKDLDQEEMH SSLRSLRNSA AKKRAKLSGS TSDLESPDSA MKLDLTMDSP SLSSSPNINS
YSESGVYSQE SLTSSLSTTP QGKRIMSDIF PTFGSKPCPT RLSSAKKKIS HIAEQSPSAG
SSSNPQQISS FDFTTTKALS EDSVVVVGKG VFGSLSSAPA TCSQSVISSV ENGDTFSIKQ
SIEPPSGIYG RSVQQNISSY LDVENEKDAK VSISKSTYNK MRQKRKEEKE LFHNKDCEKK
EKNSWERMRH TGTEKMASES ETPTGAISQY KERMPSVTHS PEIMDLSELR PFSKPEIALT
EALRLLADED WEKKIEGLNF IRCLAAFHSE ILNTKLHETN FAVVQEVKNL RSGVSRAAVV
CLSDLFTYLK KSMDQELDTT VKVLLHKAGE SNTFIREDVD KALRAMVNNV TPARAVVSLI
NGGQSHLHIA VRRCTAQHLS DVLEFMEPER ILSAAKDMAE RILPAAAKFA QDSSQETRYY
GRKMLFFMMC HPNFEKMLEK YVPSKDLPYI KDSVRNLQQK GLGEIPLDTP SAKGRRSHTG
SVGNTRSSSV SRDAFNSAER AVTEVREVTR KSVPRNSLES AEYLKLITGL LNAKDFRDRI
NGIKQLLSDT ENNQDLVVGN IVKIFDAFKS RLHDSNSKVN LVALETMHKM IPLLRDHLSP
IINMLIPAIV DNNLNSKNPG IYAAATNVVQ ALSQHVDNYL LLQPFCTKAQ FLNGKAKQDM
TEKLADIVTE LYQRKPHATE QKVLVVLWHL LGNMTNSGSL PGAGGNIRTA TAKLSKALFA
QMGQNLLNQA ASQPPHIKKS LEELLDMTIL NEL*
speed 0.27 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999703229758862 (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) chr14:45432870G>CN/A show variant in all transcripts   IGV
HGNC symbol TOGARAM1
Ensembl transcript ID ENST00000382233
Genbank transcript ID N/A
UniProt peptide Q9Y4F4
alteration type single base exchange
alteration region CDS
DNA changes c.1246G>C
cDNA.1429G>C
g.1460G>C
AA changes E416Q Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 416
frameshift no
known variant Reference ID: rs3825629
databasehomozygous (C/C)heterozygousallele carriers
1000G162619781
ExAC1194999011184
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0470.995
1.6151
(flanking)4.5591
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased1462wt: 0.50 / mu: 0.76wt: CTTGAAGTCCTGCAT
mu: CTTCAAGTCCTGCAT		 TGAA|gtcc
distance from splice site 801
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      416DSNFKVVHGTLEVLHLLVIRLGEQ
mutated  all conserved    416DSNFKVVHGTLQVLHL
Ptroglodytes  all conserved  ENSPTRG00000023162  416DSNFKVVHGTLQVLHL
Mmulatta  all conserved  ENSMMUG00000010860  416DSNFKVVHGTLQVLHL
Fcatus  no alignment  ENSFCAG00000018384  n/a
Mmusculus  all conserved  ENSMUSG00000035614  415DSNFKVVHGTLQVLHL
Ggallus  all identical  ENSGALG00000012474  9FAVVLGALEAAQLLALRLGG
Trubripes  all conserved  ENSTRUG00000012385  111KGMDQELEGTVKVL----LQKAG
Drerio  no alignment  ENSDARG00000039197  n/a
Dmelanogaster  no alignment  FBgn0259818  n/a
Celegans  all conserved  B0024.8  332DLNFKVVVLALDIV
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
390427REPEATHEAT 2.lost
466504REPEATHEAT 3.might get lost (downstream of altered splice site)
477477CONFLICTE -> K (in Ref. 1; BAA24853).might get lost (downstream of altered splice site)
506543REPEATHEAT 4.might get lost (downstream of altered splice site)
9711129COMPBIASSer-rich.might get lost (downstream of altered splice site)
992992CONFLICTS -> L (in Ref. 1; BAA24853).might get lost (downstream of altered splice site)
10551055MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15261563REPEATHEAT 5.might get lost (downstream of altered splice site)
15671605REPEATHEAT 6.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2988 / 2988
position (AA) of stopcodon in wt / mu AA sequence 996 / 996
position of stopcodon in wt / mu cDNA 3171 / 3171
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 184 / 184
chromosome 14
strand 1
last intron/exon boundary 5007
theoretical NMD boundary in CDS 4773
length of CDS 2988
coding sequence (CDS) position 1246
cDNA position
(for ins/del: last normal base / first normal base)		 1429
gDNA position
(for ins/del: last normal base / first normal base)		 1460
chromosomal position
(for ins/del: last normal base / first normal base)		 45432870
original gDNA sequence snippet AAGTGGTGCATGGCACACTTGAAGTCCTGCATTTACTGGTT
altered gDNA sequence snippet AAGTGGTGCATGGCACACTTCAAGTCCTGCATTTACTGGTT
original cDNA sequence snippet AAGTGGTGCATGGCACACTTGAAGTCCTGCATTTACTGGTT
altered cDNA sequence snippet AAGTGGTGCATGGCACACTTCAAGTCCTGCATTTACTGGTT
wildtype AA sequence MAAAPSALLL LPPFPVLSTY RLQSRSRPSA PETDDSRVGG IMRGEKNYYF RGAAGDHGSC
PTTTSPLASA LLMPSEAVSS SWSESGGGLS GGDEEDTRLL QLLRTARDPS EAFQALQAAL
PRRGGRLGFP RRKEALYRAL GRVLVEGGSD EKRLCLQLLS DVLRGQGEAG QLEEAFSLAL
LPQLVVSLRE ENPALRKDAL QILHICLKRS PGEVLRTLIQ QGLESTDARL RASTALLLPI
LLTTEDLLLG LDLTEVIISL ARKLGDQETE EESETAFSAL QQIGERLGQD RFQSYISRLP
SALRRHYNRR LESQFGSQVP YYLELEASGF PEDPLPCAVT LSNSNLKFGI IPQELHSRLL
DQEDYKNRTQ AVEELKQVLG KFNPSSTPHS SLVGFISLLY NLLDDSNFKV VHGTLEVLHL
LVIRLGEQVQ QFLGPVIAAS VKVLADNKLV IKQEYMKIFL KLMKEVGPQQ VLCLLLEHLK
HKHSRVREEV VNICICSLLT YPSEDFDLPK LSFDLAPALV DSKRRVRQAA LEAFAVLASS
MGSGKTSILF KAVDTVELQD NGDGVMNAVQ ARLARKTLPR LTEQGFVEYA VLMPSSAGGR
SNHLAHGADT DWLLAGNRTQ SAHCHCGDHV RDSMHIYGSY SPTICTRRVL SAGKGKNKLP
WENEQPGIMG ENQTSTSKDI EQFSTYDFIP SAKLKLSQGM PVNDDLCFSR KRVSRNLFQN
SRDFNPDCLP LCAAGTTGTH QTNLSGKCAQ LGFSQICGKT GSVGSDLQFL GTTSSHQEKV
YASLNFGSKT QQTFGSQTEC TSSNGQNPSP GAYILPSYPV SSPRTSPKHT SPLIISPKKS
QDNSVNFSNS WPLKSFEGLS KPSPQKKLVS QKSSDPTGRN HGENSQEKPP VQLTPALVRS
PSSRRGLNGT KPVPPIPRGI SLLPDKADLS TVGHKKKEPD DIWKCEKDSL PIDLSELNFK
DKDLDQEEVR HISNIWVKTL SNKTFFCKEK NFSYC*
mutated AA sequence MAAAPSALLL LPPFPVLSTY RLQSRSRPSA PETDDSRVGG IMRGEKNYYF RGAAGDHGSC
PTTTSPLASA LLMPSEAVSS SWSESGGGLS GGDEEDTRLL QLLRTARDPS EAFQALQAAL
PRRGGRLGFP RRKEALYRAL GRVLVEGGSD EKRLCLQLLS DVLRGQGEAG QLEEAFSLAL
LPQLVVSLRE ENPALRKDAL QILHICLKRS PGEVLRTLIQ QGLESTDARL RASTALLLPI
LLTTEDLLLG LDLTEVIISL ARKLGDQETE EESETAFSAL QQIGERLGQD RFQSYISRLP
SALRRHYNRR LESQFGSQVP YYLELEASGF PEDPLPCAVT LSNSNLKFGI IPQELHSRLL
DQEDYKNRTQ AVEELKQVLG KFNPSSTPHS SLVGFISLLY NLLDDSNFKV VHGTLQVLHL
LVIRLGEQVQ QFLGPVIAAS VKVLADNKLV IKQEYMKIFL KLMKEVGPQQ VLCLLLEHLK
HKHSRVREEV VNICICSLLT YPSEDFDLPK LSFDLAPALV DSKRRVRQAA LEAFAVLASS
MGSGKTSILF KAVDTVELQD NGDGVMNAVQ ARLARKTLPR LTEQGFVEYA VLMPSSAGGR
SNHLAHGADT DWLLAGNRTQ SAHCHCGDHV RDSMHIYGSY SPTICTRRVL SAGKGKNKLP
WENEQPGIMG ENQTSTSKDI EQFSTYDFIP SAKLKLSQGM PVNDDLCFSR KRVSRNLFQN
SRDFNPDCLP LCAAGTTGTH QTNLSGKCAQ LGFSQICGKT GSVGSDLQFL GTTSSHQEKV
YASLNFGSKT QQTFGSQTEC TSSNGQNPSP GAYILPSYPV SSPRTSPKHT SPLIISPKKS
QDNSVNFSNS WPLKSFEGLS KPSPQKKLVS QKSSDPTGRN HGENSQEKPP VQLTPALVRS
PSSRRGLNGT KPVPPIPRGI SLLPDKADLS TVGHKKKEPD DIWKCEKDSL PIDLSELNFK
DKDLDQEEVR HISNIWVKTL SNKTFFCKEK NFSYC*
speed 0.23 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
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Problems