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 11 transcript(s)...
Querying Taster for transcript #1: ENST00000377111
Querying Taster for transcript #2: ENST00000377110
Querying Taster for transcript #3: ENST00000357533
Querying Taster for transcript #4: ENST00000408909
Querying Taster for transcript #5: ENST00000396285
Querying Taster for transcript #6: ENST00000396292
Querying Taster for transcript #7: ENST00000358082
Querying Taster for transcript #8: ENST00000423814
Querying Taster for transcript #9: ENST00000377106
Querying Taster for transcript #10: ENST00000360823
Querying Taster for transcript #11: ENST00000377105
MT speed 0 s - this script 6.221154 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
TRPM3polymorphism_automatic0.973072406233815simple_aaeaffectedR1692Ksingle base exchangers41287373show file
TRPM3polymorphism_automatic0.973072406233815simple_aaeaffectedR1696Ksingle base exchangers41287373show file
TRPM3polymorphism_automatic0.973072406233815simple_aaeaffectedR1551Ksingle base exchangers41287373show file
TRPM3polymorphism_automatic0.973072406233815simple_aaeaffectedR1551Ksingle base exchangers41287373show file
TRPM3polymorphism_automatic0.973072406233815simple_aaeaffectedR1564Ksingle base exchangers41287373show file
TRPM3polymorphism_automatic0.973072406233815simple_aaeaffectedR1554Ksingle base exchangers41287373show file
TRPM3polymorphism_automatic0.973072406233815simple_aaeaffectedR1564Ksingle base exchangers41287373show file
TRPM3polymorphism_automatic0.973072406233815simple_aaeaffectedR1719Ksingle base exchangers41287373show file
TRPM3polymorphism_automatic0.973072406233815simple_aaeaffectedR1554Ksingle base exchangers41287373show file
TRPM3polymorphism_automatic0.973072406233815simple_aaeaffectedR1551Ksingle base exchangers41287373show file
TRPM3polymorphism_automatic1without_aaeaffectedsingle base exchangers41287373show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0269275937661846 (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) chr9:73150918C>TN/A show variant in all transcripts   IGV
HGNC symbol TRPM3
Ensembl transcript ID ENST00000377110
Genbank transcript ID NM_001007471
UniProt peptide Q9HCF6
alteration type single base exchange
alteration region CDS
DNA changes c.5075G>A
cDNA.5319G>A
g.910903G>A
AA changes R1692K Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1692
frameshift no
known variant Reference ID: rs41287373
databasehomozygous (T/T)heterozygousallele carriers
1000G137766903
ExAC45132284227355
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5711
3.7181
(flanking)4.7191
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased910906wt: 0.84 / mu: 0.93wt: GAGACTGTCCAGAAC
mu: GAAACTGTCCAGAAC		 GACT|gtcc
Donor increased910899wt: 0.86 / mu: 0.99wt: CCATGAGGAGACTGT
mu: CCATGAGGAAACTGT		 ATGA|ggag
Donor increased910900wt: 0.50 / mu: 0.55wt: CATGAGGAGACTGTC
mu: CATGAGGAAACTGTC		 TGAG|gaga
distance from splice site 951
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1692PEGRGDSLSMRRLSRTSAFQSFES
mutated  all conserved    1692PEGRGDSLSMRKLSRTSAFQSFE
Ptroglodytes  all identical  ENSPTRG00000021014  1633PEGRGDSLSMRRLSRTSAFQSFE
Mmulatta  all identical  ENSMMUG00000006156  1717PEGRGDSLSMRRLSRTSAFQSFE
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000052387  1706PEGRGDSLSMRRLSRTSAFHSFE
Ggallus  no alignment  ENSGALG00000015126  n/a
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000039181  1718LEGKTDSLSMRKMA
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
11381732TOPO_DOMCytoplasmic (Potential).lost
17301730CONFLICTK -> Q (in Ref. 6; BAC55104).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5124 / 5124
position (AA) of stopcodon in wt / mu AA sequence 1708 / 1708
position of stopcodon in wt / mu cDNA 5368 / 5368
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 245 / 245
chromosome 9
strand -1
last intron/exon boundary 3916
theoretical NMD boundary in CDS 3621
length of CDS 5124
coding sequence (CDS) position 5075
cDNA position
(for ins/del: last normal base / first normal base)		 5319
gDNA position
(for ins/del: last normal base / first normal base)		 910903
chromosomal position
(for ins/del: last normal base / first normal base)		 73150918
original gDNA sequence snippet GGACAGCCTGTCCATGAGGAGACTGTCCAGAACATCGGCTT
altered gDNA sequence snippet GGACAGCCTGTCCATGAGGAAACTGTCCAGAACATCGGCTT
original cDNA sequence snippet GGACAGCCTGTCCATGAGGAGACTGTCCAGAACATCGGCTT
altered cDNA sequence snippet GGACAGCCTGTCCATGAGGAAACTGTCCAGAACATCGGCTT
wildtype AA sequence MPEPWGTVYF LGIAQVFSFL FSWWNLEGVM NQADAPRPLN WTIRKLCHAA FLPSVRLLKA
QKSWIERAFY KRECVHIIPS TKDPHRCCCG RLIGQHVGLT PSISVLQNEK NESRLSRNDI
QSEKWSISKH TQLSPTDAFG TIEFQGGGHS NKAMYVRVSF DTKPDLLLHL MTKEWQLELP
KLLISVHGGL QNFELQPKLK QVFGKGLIKA AMTTGAWIFT GGVNTGVIRH VGDALKDHAS
KSRGKICTIG IAPWGIVENQ EDLIGRDVVR PYQTMSNPMS KLTVLNSMHS HFILADNGTT
GKYGAEVKLR RQLEKHISLQ KINTRIGQGV PVVALIVEGG PNVISIVLEY LRDTPPVPVV
VCDGSGRASD ILAFGHKYSE EGGLINESLR DQLLVTIQKT FTYTRTQAQH LFIILMECMK
KKELITVFRM GSEGHQDIDL AILTALLKGA NASAPDQLSL ALAWNRVDIA RSQIFIYGQQ
WPVGSLEQAM LDALVLDRVD FVKLLIENGV SMHRFLTISR LEELYNTRHG PSNTLYHLVR
DVKKGNLPPD YRISLIDIGL VIEYLMGGAY RCNYTRKRFR TLYHNLFGPK RPKALKLLGM
EDDIPLRRGR KTTKKREEEV DIDLDDPEIN HFPFPFHELM VWAVLMKRQK MALFFWQHGE
EAMAKALVAC KLCKAMAHEA SENDMVDDIS QELNHNSRDF GQLAVELLDQ SYKQDEQLAM
KLLTYELKNW SNATCLQLAV AAKHRDFIAH TCSQMLLTDM WMGRLRMRKN SGLKVILGIL
LPPSILSLEF KNKDDMPYMS QAQEIHLQEK EAEEPEKPTK EKEEEDMELT AMLGRNNGES
SRKKDEEEVQ SKHRLIPLGR KIYEFYNAPI VKFWFYTLAY IGYLMLFNYI VLVKMERWPS
TQEWIVISYI FTLGIEKMRE ILMSEPGKLL QKVKVWLQEY WNVTDLIAIL LFSVGMILRL
QDQPFRSDGR VIYCVNIIYW YIRLLDIFGV NKYLGPYVMM IGKMMIDMMY FVIIMLVVLM
SFGVARQAIL FPNEEPSWKL AKNIFYMPYW MIYGEVFADQ IDPPCGQNET REDGKIIQLP
PCKTGAWIVP AIMACYLLVA NILLVNLLIA VFNNTFFEVK SISNQVWKFQ RYQLIMTFHE
RPVLPPPLII FSHMTMIFQH LCCRWRKHES DPDERDYGLK LFITDDELKK VHDFEEQCIE
EYFREKDDRF NSSNDERIRV TSERVENMSM RLEEVNEREH SMKASLQTVD IRLAQLEDLI
GRMATALERL TGLERAESNK IRSRTSSDCT DAAYIVRQSS FNSQEGNTFK LQESIDPAGE
ETMSPTSPTL MPRMRSHSFY SVNMKDKGGI EKLESIFKER SLSLHRATSS HSVAKEPKAP
AAPANTLAIV PDSRRPSSCI DIYVSAMDEL HCDIDPLDNS VNILGLGEPS FSTPVPSTAP
SSSAYATLAP TDRPPSRSID FEDITSMDTR SFSSDYTHLP ECQNPWDSEP PMYHTIERSK
SSRYLATTPF LLEEAPIVKS HSFMFSPSRS YYANFGVPVK TAEYTSITDC IDTRCVNAPQ
AIADRAAFPG GLGDKVEDLT CCHPEREAEL SHPSSDSEEN EAKGRRATIA ISSQEGDNSE
RTLSNNITVP KIERANSYSA EEPSAPYAHT RKSFSISDKL DRQRNTASLR NPFQRSKSSK
PEGRGDSLSM RRLSRTSAFQ SFESKHN*
mutated AA sequence MPEPWGTVYF LGIAQVFSFL FSWWNLEGVM NQADAPRPLN WTIRKLCHAA FLPSVRLLKA
QKSWIERAFY KRECVHIIPS TKDPHRCCCG RLIGQHVGLT PSISVLQNEK NESRLSRNDI
QSEKWSISKH TQLSPTDAFG TIEFQGGGHS NKAMYVRVSF DTKPDLLLHL MTKEWQLELP
KLLISVHGGL QNFELQPKLK QVFGKGLIKA AMTTGAWIFT GGVNTGVIRH VGDALKDHAS
KSRGKICTIG IAPWGIVENQ EDLIGRDVVR PYQTMSNPMS KLTVLNSMHS HFILADNGTT
GKYGAEVKLR RQLEKHISLQ KINTRIGQGV PVVALIVEGG PNVISIVLEY LRDTPPVPVV
VCDGSGRASD ILAFGHKYSE EGGLINESLR DQLLVTIQKT FTYTRTQAQH LFIILMECMK
KKELITVFRM GSEGHQDIDL AILTALLKGA NASAPDQLSL ALAWNRVDIA RSQIFIYGQQ
WPVGSLEQAM LDALVLDRVD FVKLLIENGV SMHRFLTISR LEELYNTRHG PSNTLYHLVR
DVKKGNLPPD YRISLIDIGL VIEYLMGGAY RCNYTRKRFR TLYHNLFGPK RPKALKLLGM
EDDIPLRRGR KTTKKREEEV DIDLDDPEIN HFPFPFHELM VWAVLMKRQK MALFFWQHGE
EAMAKALVAC KLCKAMAHEA SENDMVDDIS QELNHNSRDF GQLAVELLDQ SYKQDEQLAM
KLLTYELKNW SNATCLQLAV AAKHRDFIAH TCSQMLLTDM WMGRLRMRKN SGLKVILGIL
LPPSILSLEF KNKDDMPYMS QAQEIHLQEK EAEEPEKPTK EKEEEDMELT AMLGRNNGES
SRKKDEEEVQ SKHRLIPLGR KIYEFYNAPI VKFWFYTLAY IGYLMLFNYI VLVKMERWPS
TQEWIVISYI FTLGIEKMRE ILMSEPGKLL QKVKVWLQEY WNVTDLIAIL LFSVGMILRL
QDQPFRSDGR VIYCVNIIYW YIRLLDIFGV NKYLGPYVMM IGKMMIDMMY FVIIMLVVLM
SFGVARQAIL FPNEEPSWKL AKNIFYMPYW MIYGEVFADQ IDPPCGQNET REDGKIIQLP
PCKTGAWIVP AIMACYLLVA NILLVNLLIA VFNNTFFEVK SISNQVWKFQ RYQLIMTFHE
RPVLPPPLII FSHMTMIFQH LCCRWRKHES DPDERDYGLK LFITDDELKK VHDFEEQCIE
EYFREKDDRF NSSNDERIRV TSERVENMSM RLEEVNEREH SMKASLQTVD IRLAQLEDLI
GRMATALERL TGLERAESNK IRSRTSSDCT DAAYIVRQSS FNSQEGNTFK LQESIDPAGE
ETMSPTSPTL MPRMRSHSFY SVNMKDKGGI EKLESIFKER SLSLHRATSS HSVAKEPKAP
AAPANTLAIV PDSRRPSSCI DIYVSAMDEL HCDIDPLDNS VNILGLGEPS FSTPVPSTAP
SSSAYATLAP TDRPPSRSID FEDITSMDTR SFSSDYTHLP ECQNPWDSEP PMYHTIERSK
SSRYLATTPF LLEEAPIVKS HSFMFSPSRS YYANFGVPVK TAEYTSITDC IDTRCVNAPQ
AIADRAAFPG GLGDKVEDLT CCHPEREAEL SHPSSDSEEN EAKGRRATIA ISSQEGDNSE
RTLSNNITVP KIERANSYSA EEPSAPYAHT RKSFSISDKL DRQRNTASLR NPFQRSKSSK
PEGRGDSLSM RKLSRTSAFQ SFESKHN*
speed 1.29 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: 0.0269275937661846 (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) chr9:73150918C>TN/A show variant in all transcripts   IGV
HGNC symbol TRPM3
Ensembl transcript ID ENST00000357533
Genbank transcript ID NM_206945
UniProt peptide Q9HCF6
alteration type single base exchange
alteration region CDS
DNA changes c.5087G>A
cDNA.5087G>A
g.910903G>A
AA changes R1696K Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1696
frameshift no
known variant Reference ID: rs41287373
databasehomozygous (T/T)heterozygousallele carriers
1000G137766903
ExAC45132284227355
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5711
3.7181
(flanking)4.7191
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased910906wt: 0.84 / mu: 0.93wt: GAGACTGTCCAGAAC
mu: GAAACTGTCCAGAAC		 GACT|gtcc
Donor increased910899wt: 0.86 / mu: 0.99wt: CCATGAGGAGACTGT
mu: CCATGAGGAAACTGT		 ATGA|ggag
Donor increased910900wt: 0.50 / mu: 0.55wt: CATGAGGAGACTGTC
mu: CATGAGGAAACTGTC		 TGAG|gaga
distance from splice site 59
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1696PEGRGDSLSMRRLSRTSAFQSFES
mutated  all conserved    1696PEGRGDSLSMRKLSRTSAFQSFE
Ptroglodytes  all identical  ENSPTRG00000021014  1633PEGRGDSLSMRRLSRTSAFQSFE
Mmulatta  all identical  ENSMMUG00000006156  1717PEGRGDSLSMRRLSRTSAFQSF
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000052387  1706PEGRGDSLSMRRLSRTSAFHSFE
Ggallus  no alignment  ENSGALG00000015126  n/a
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000039181  1717GKTDSLSMRKMAKPSAFRSFD
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
11381732TOPO_DOMCytoplasmic (Potential).lost
17301730CONFLICTK -> Q (in Ref. 6; BAC55104).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5136 / 5136
position (AA) of stopcodon in wt / mu AA sequence 1712 / 1712
position of stopcodon in wt / mu cDNA 5136 / 5136
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 1 / 1
chromosome 9
strand -1
last intron/exon boundary 3684
theoretical NMD boundary in CDS 3633
length of CDS 5136
coding sequence (CDS) position 5087
cDNA position
(for ins/del: last normal base / first normal base)		 5087
gDNA position
(for ins/del: last normal base / first normal base)		 910903
chromosomal position
(for ins/del: last normal base / first normal base)		 73150918
original gDNA sequence snippet GGACAGCCTGTCCATGAGGAGACTGTCCAGAACATCGGCTT
altered gDNA sequence snippet GGACAGCCTGTCCATGAGGAAACTGTCCAGAACATCGGCTT
original cDNA sequence snippet GGACAGCCTGTCCATGAGGAGACTGTCCAGAACATCGGCTT
altered cDNA sequence snippet GGACAGCCTGTCCATGAGGAAACTGTCCAGAACATCGGCTT
wildtype AA sequence MGKKWRDAAE MERGCSDRED NAESRRRSRS ASRGRFAESW KRLSSKQGST KRSGLPSQQT
PAQKSWIERA FYKRECVHII PSTKDPHRCC CGRLIGQHVG LTPSISVLQN EKNESRLSRN
DIQSEKWSIS KHTQLSPTDA FGTIEFQGGG HSNKAMYVRV SFDTKPDLLL HLMTKEWQLE
LPKLLISVHG GLQNFELQPK LKQVFGKGLI KAAMTTGAWI FTGGVNTGVI RHVGDALKDH
ASKSRGKICT IGIAPWGIVE NQEDLIGRDV VRPYQTMSNP MSKLTVLNSM HSHFILADNG
TTGKYGAEVK LRRQLEKHIS LQKINTRIGQ GVPVVALIVE GGPNVISIVL EYLRDTPPVP
VVVCDGSGRA SDILAFGHKY SEEGGLINES LRDQLLVTIQ KTFTYTRTQA QHLFIILMEC
MKKKELITVF RMGSEGHQDI DLAILTALLK GANASAPDQL SLALAWNRVD IARSQIFIYG
QQWPVGSLEQ AMLDALVLDR VDFVKLLIEN GVSMHRFLTI SRLEELYNTR HGPSNTLYHL
VRDVKKREYP GFGWIYFKGN LPPDYRISLI DIGLVIEYLM GGAYRCNYTR KRFRTLYHNL
FGPKRDDIPL RRGRKTTKKR EEEVDIDLDD PEINHFPFPF HELMVWAVLM KRQKMALFFW
QHGEEAMAKA LVACKLCKAM AHEASENDMV DDISQELNHN SRDFGQLAVE LLDQSYKQDE
QLAMKLLTYE LKNWSNATCL QLAVAAKHRD FIAHTCSQML LTDMWMGRLR MRKNSGLKVI
LGILLPPSIL SLEFKNKDDM PYMSQAQEIH LQEKEAEEPE KPTKEKEEED MELTAMLGRN
NGESSRKKDE EEVQSKHRLI PLGRKIYEFY NAPIVKFWFY TLAYIGYLML FNYIVLVKME
RWPSTQEWIV ISYIFTLGIE KMREILMSEP GKLLQKVKVW LQEYWNVTDL IAILLFSVGM
ILRLQDQPFR SDGRVIYCVN IIYWYIRLLD IFGVNKYLGP YVMMIGKMMI DMMYFVIIML
VVLMSFGVAR QAILFPNEEP SWKLAKNIFY MPYWMIYGEV FADQIDPPCG QNETREDGKI
IQLPPCKTGA WIVPAIMACY LLVANILLVN LLIAVFNNTF FEVKSISNQV WKFQRYQLIM
TFHERPVLPP PLIIFSHMTM IFQHLCCRWR KHESDPDERD YGLKLFITDD ELKKVHDFEE
QCIEEYFREK DDRFNSSNDE RIRVTSERVE NMSMRLEEVN EREHSMKASL QTVDIRLAQL
EDLIGRMATA LERLTGLERA ESNKIRSRTS SDCTDAAYIV RQSSFNSQEG NTFKLQESID
PAGEETMSPT SPTLMPRMRS HSFYSVNMKD KGGIEKLESI FKERSLSLHR ATSSHSVAKE
PKAPAAPANT LAIVPDSRRP SSCIDIYVSA MDELHCDIDP LDNSVNILGL GEPSFSTPVP
STAPSSSAYA TLAPTDRPPS RSIDFEDITS MDTRSFSSDY THLPECQNPW DSEPPMYHTI
ERSKSSRYLA TTPFLLEEAP IVKSHSFMFS PSRSYYANFG VPVKTAEYTS ITDCIDTRCV
NAPQAIADRA AFPGGLGDKV EDLTCCHPER EAELSHPSSD SEENEAKGRR ATIAISSQEG
DNSERTLSNN ITVPKIERAN SYSAEEPSAP YAHTRKSFSI SDKLDRQRNT ASLRNPFQRS
KSSKPEGRGD SLSMRRLSRT SAFQSFESKH N*
mutated AA sequence MGKKWRDAAE MERGCSDRED NAESRRRSRS ASRGRFAESW KRLSSKQGST KRSGLPSQQT
PAQKSWIERA FYKRECVHII PSTKDPHRCC CGRLIGQHVG LTPSISVLQN EKNESRLSRN
DIQSEKWSIS KHTQLSPTDA FGTIEFQGGG HSNKAMYVRV SFDTKPDLLL HLMTKEWQLE
LPKLLISVHG GLQNFELQPK LKQVFGKGLI KAAMTTGAWI FTGGVNTGVI RHVGDALKDH
ASKSRGKICT IGIAPWGIVE NQEDLIGRDV VRPYQTMSNP MSKLTVLNSM HSHFILADNG
TTGKYGAEVK LRRQLEKHIS LQKINTRIGQ GVPVVALIVE GGPNVISIVL EYLRDTPPVP
VVVCDGSGRA SDILAFGHKY SEEGGLINES LRDQLLVTIQ KTFTYTRTQA QHLFIILMEC
MKKKELITVF RMGSEGHQDI DLAILTALLK GANASAPDQL SLALAWNRVD IARSQIFIYG
QQWPVGSLEQ AMLDALVLDR VDFVKLLIEN GVSMHRFLTI SRLEELYNTR HGPSNTLYHL
VRDVKKREYP GFGWIYFKGN LPPDYRISLI DIGLVIEYLM GGAYRCNYTR KRFRTLYHNL
FGPKRDDIPL RRGRKTTKKR EEEVDIDLDD PEINHFPFPF HELMVWAVLM KRQKMALFFW
QHGEEAMAKA LVACKLCKAM AHEASENDMV DDISQELNHN SRDFGQLAVE LLDQSYKQDE
QLAMKLLTYE LKNWSNATCL QLAVAAKHRD FIAHTCSQML LTDMWMGRLR MRKNSGLKVI
LGILLPPSIL SLEFKNKDDM PYMSQAQEIH LQEKEAEEPE KPTKEKEEED MELTAMLGRN
NGESSRKKDE EEVQSKHRLI PLGRKIYEFY NAPIVKFWFY TLAYIGYLML FNYIVLVKME
RWPSTQEWIV ISYIFTLGIE KMREILMSEP GKLLQKVKVW LQEYWNVTDL IAILLFSVGM
ILRLQDQPFR SDGRVIYCVN IIYWYIRLLD IFGVNKYLGP YVMMIGKMMI DMMYFVIIML
VVLMSFGVAR QAILFPNEEP SWKLAKNIFY MPYWMIYGEV FADQIDPPCG QNETREDGKI
IQLPPCKTGA WIVPAIMACY LLVANILLVN LLIAVFNNTF FEVKSISNQV WKFQRYQLIM
TFHERPVLPP PLIIFSHMTM IFQHLCCRWR KHESDPDERD YGLKLFITDD ELKKVHDFEE
QCIEEYFREK DDRFNSSNDE RIRVTSERVE NMSMRLEEVN EREHSMKASL QTVDIRLAQL
EDLIGRMATA LERLTGLERA ESNKIRSRTS SDCTDAAYIV RQSSFNSQEG NTFKLQESID
PAGEETMSPT SPTLMPRMRS HSFYSVNMKD KGGIEKLESI FKERSLSLHR ATSSHSVAKE
PKAPAAPANT LAIVPDSRRP SSCIDIYVSA MDELHCDIDP LDNSVNILGL GEPSFSTPVP
STAPSSSAYA TLAPTDRPPS RSIDFEDITS MDTRSFSSDY THLPECQNPW DSEPPMYHTI
ERSKSSRYLA TTPFLLEEAP IVKSHSFMFS PSRSYYANFG VPVKTAEYTS ITDCIDTRCV
NAPQAIADRA AFPGGLGDKV EDLTCCHPER EAELSHPSSD SEENEAKGRR ATIAISSQEG
DNSERTLSNN ITVPKIERAN SYSAEEPSAP YAHTRKSFSI SDKLDRQRNT ASLRNPFQRS
KSSKPEGRGD SLSMRKLSRT SAFQSFESKH N*
speed 0.31 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: 0.0269275937661846 (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) chr9:73150918C>TN/A show variant in all transcripts   IGV
HGNC symbol TRPM3
Ensembl transcript ID ENST00000408909
Genbank transcript ID N/A
UniProt peptide Q9HCF6
alteration type single base exchange
alteration region CDS
DNA changes c.4652G>A
cDNA.4652G>A
g.910903G>A
AA changes R1551K Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1551
frameshift no
known variant Reference ID: rs41287373
databasehomozygous (T/T)heterozygousallele carriers
1000G137766903
ExAC45132284227355
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5711
3.7181
(flanking)4.7191
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased910906wt: 0.84 / mu: 0.93wt: GAGACTGTCCAGAAC
mu: GAAACTGTCCAGAAC		 GACT|gtcc
Donor increased910899wt: 0.86 / mu: 0.99wt: CCATGAGGAGACTGT
mu: CCATGAGGAAACTGT		 ATGA|ggag
Donor increased910900wt: 0.50 / mu: 0.55wt: CATGAGGAGACTGTC
mu: CATGAGGAAACTGTC		 TGAG|gaga
distance from splice site 50
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1551PEGRGDSLSMRRLSRTSAFQSFES
mutated  all conserved    1551PEGRGDSLSMRKLSRTSAFQS
Ptroglodytes  all identical  ENSPTRG00000021014  1633PEGRGDSLSMRRLSRTSAFQS
Mmulatta  all identical  ENSMMUG00000006156  1717PEGRGDSLSMRRLSRTSAFQSFE
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000052387  1706PEGRGDSLSMRRLSRTSAFHS
Ggallus  no alignment  ENSGALG00000015126  n/a
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000039181  1718LEGKTDSLSMRKMAKPSAFRSFD
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
11381732TOPO_DOMCytoplasmic (Potential).lost
17301730CONFLICTK -> Q (in Ref. 6; BAC55104).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4701 / 4701
position (AA) of stopcodon in wt / mu AA sequence 1567 / 1567
position of stopcodon in wt / mu cDNA 4701 / 4701
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 1 / 1
chromosome 9
strand -1
last intron/exon boundary 3249
theoretical NMD boundary in CDS 3198
length of CDS 4701
coding sequence (CDS) position 4652
cDNA position
(for ins/del: last normal base / first normal base)		 4652
gDNA position
(for ins/del: last normal base / first normal base)		 910903
chromosomal position
(for ins/del: last normal base / first normal base)		 73150918
original gDNA sequence snippet GGACAGCCTGTCCATGAGGAGACTGTCCAGAACATCGGCTT
altered gDNA sequence snippet GGACAGCCTGTCCATGAGGAAACTGTCCAGAACATCGGCTT
original cDNA sequence snippet GGACAGCCTGTCCATGAGGAGACTGTCCAGAACATCGGCTT
altered cDNA sequence snippet GGACAGCCTGTCCATGAGGAAACTGTCCAGAACATCGGCTT
wildtype AA sequence MYVRVSFDTK PDLLLHLMTK EWQLELPKLL ISVHGGLQNF ELQPKLKQVF GKGLIKAAMT
TGAWIFTGGV NTGVIRHVGD ALKDHASKSR GKICTIGIAP WGIVENQEDL IGRDVVRPYQ
TMSNPMSKLT VLNSMHSHFI LADNGTTGKY GAEVKLRRQL EKHISLQKIN TRIGQGVPVV
ALIVEGGPNV ISIVLEYLRD TPPVPVVVCD GSGRASDILA FGHKYSEEGG LINESLRDQL
LVTIQKTFTY TRTQAQHLFI ILMECMKKKE LITVFRMGSE GHQDIDLAIL TALLKGANAS
APDQLSLALA WNRVDIARSQ IFIYGQQWPV GSLEQAMLDA LVLDRVDFVK LLIENGVSMH
RFLTISRLEE LYNTRHGPSN TLYHLVRDVK KREYPGFGWI YFKGNLPPDY RISLIDIGLV
IEYLMGGAYR CNYTRKRFRT LYHNLFGPKR PKALKLLGME DDIPLRRGRK TTKKREEEVD
IDLDDPEINH FPFPFHELMV WAVLMKRQKM ALFFWQHGEE AMAKALVACK LCKAMAHEAS
ENDMVDDISQ ELNHNSRDFG QLAVELLDQS YKQDEQLAMK LLTYELKNWS NATCLQLAVA
AKHRDFIAHT CSQMLLTDMW MGRLRMRKNS GLKVILGILL PPSILSLEFK NKDDMPYMSQ
AQEIHLQEKE AEEPEKPTKE KEEEDMELTA MLGRNNGESS RKKDEEEVQS KHRLIPLGRK
IYEFYNAPIV KFWFYTLAYI GYLMLFNYIV LVKMERWPST QEWIVISYIF TLGIEKMREI
LMSEPGKLLQ KVKVWLQEYW NVTDLIAILL FSVGMILRLQ DQPFRSDGRV IYCVNIIYWY
IRLLDIFGVN KYLGPYVMMI GKMMIDMMYF VIIMLVVLMS FGVARQAILF PNEEPSWKLA
KNIFYMPYWM IYGEVFADQI DPPCGQNETR EDGKIIQLPP CKTGAWIVPA IMACYLLVAN
ILLVNLLIAV FNNTFFEVKS ISNQVWKFQR YQLIMTFHER PVLPPPLIIF SHMTMIFQHL
CCRWRKHESD PDERDYGLKL FITDDELKKV HDFEEQCIEE YFREKDDRFN SSNDERIRVT
SERVENMSMR LEEVNEREHS MKASLQTVDI RLAQLEDLIG RMATALERLT GLERAESNKI
RSRTSSDCTD AAYIVRQSSF NSQEGNTFKL QESIDPAGEE TMSPTSPTLM PRMRSHSFYS
VNMKDKGGIE KLESIFKERS LSLHRATSSH SVAKEPKAPA APANTLAIVP DSRRPSSCID
IYVSAMDELH CDIDPLDNSV NILGLGEPSF STPVPSTAPS SSAYATLAPT DRPPSRSIDF
EDITSMDTRS FSSDYTHLPE CQNPWDSEPP MYHTIERSKS SRYLATTPFL LEEAPIVKSH
SFMFSPSRSY YANFGVPVKT AEYTSITDCI DTRCVNAPQA IADRAAFPGG LGDKVEDLTC
CHPEREAELS HPSSDSEENE AKGRRATIAI SSQEGDNSER TLSNNITVPK IERANSYSAE
EPSAPYAHTR KSFSISDKLD RQRNTASLRN PFQRSKSSKP EGRGDSLSMR RLSRTSAFQS
FESKHN*
mutated AA sequence MYVRVSFDTK PDLLLHLMTK EWQLELPKLL ISVHGGLQNF ELQPKLKQVF GKGLIKAAMT
TGAWIFTGGV NTGVIRHVGD ALKDHASKSR GKICTIGIAP WGIVENQEDL IGRDVVRPYQ
TMSNPMSKLT VLNSMHSHFI LADNGTTGKY GAEVKLRRQL EKHISLQKIN TRIGQGVPVV
ALIVEGGPNV ISIVLEYLRD TPPVPVVVCD GSGRASDILA FGHKYSEEGG LINESLRDQL
LVTIQKTFTY TRTQAQHLFI ILMECMKKKE LITVFRMGSE GHQDIDLAIL TALLKGANAS
APDQLSLALA WNRVDIARSQ IFIYGQQWPV GSLEQAMLDA LVLDRVDFVK LLIENGVSMH
RFLTISRLEE LYNTRHGPSN TLYHLVRDVK KREYPGFGWI YFKGNLPPDY RISLIDIGLV
IEYLMGGAYR CNYTRKRFRT LYHNLFGPKR PKALKLLGME DDIPLRRGRK TTKKREEEVD
IDLDDPEINH FPFPFHELMV WAVLMKRQKM ALFFWQHGEE AMAKALVACK LCKAMAHEAS
ENDMVDDISQ ELNHNSRDFG QLAVELLDQS YKQDEQLAMK LLTYELKNWS NATCLQLAVA
AKHRDFIAHT CSQMLLTDMW MGRLRMRKNS GLKVILGILL PPSILSLEFK NKDDMPYMSQ
AQEIHLQEKE AEEPEKPTKE KEEEDMELTA MLGRNNGESS RKKDEEEVQS KHRLIPLGRK
IYEFYNAPIV KFWFYTLAYI GYLMLFNYIV LVKMERWPST QEWIVISYIF TLGIEKMREI
LMSEPGKLLQ KVKVWLQEYW NVTDLIAILL FSVGMILRLQ DQPFRSDGRV IYCVNIIYWY
IRLLDIFGVN KYLGPYVMMI GKMMIDMMYF VIIMLVVLMS FGVARQAILF PNEEPSWKLA
KNIFYMPYWM IYGEVFADQI DPPCGQNETR EDGKIIQLPP CKTGAWIVPA IMACYLLVAN
ILLVNLLIAV FNNTFFEVKS ISNQVWKFQR YQLIMTFHER PVLPPPLIIF SHMTMIFQHL
CCRWRKHESD PDERDYGLKL FITDDELKKV HDFEEQCIEE YFREKDDRFN SSNDERIRVT
SERVENMSMR LEEVNEREHS MKASLQTVDI RLAQLEDLIG RMATALERLT GLERAESNKI
RSRTSSDCTD AAYIVRQSSF NSQEGNTFKL QESIDPAGEE TMSPTSPTLM PRMRSHSFYS
VNMKDKGGIE KLESIFKERS LSLHRATSSH SVAKEPKAPA APANTLAIVP DSRRPSSCID
IYVSAMDELH CDIDPLDNSV NILGLGEPSF STPVPSTAPS SSAYATLAPT DRPPSRSIDF
EDITSMDTRS FSSDYTHLPE CQNPWDSEPP MYHTIERSKS SRYLATTPFL LEEAPIVKSH
SFMFSPSRSY YANFGVPVKT AEYTSITDCI DTRCVNAPQA IADRAAFPGG LGDKVEDLTC
CHPEREAELS HPSSDSEENE AKGRRATIAI SSQEGDNSER TLSNNITVPK IERANSYSAE
EPSAPYAHTR KSFSISDKLD RQRNTASLRN PFQRSKSSKP EGRGDSLSMR KLSRTSAFQS
FESKHN*
speed 0.25 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: 0.0269275937661846 (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) chr9:73150918C>TN/A show variant in all transcripts   IGV
HGNC symbol TRPM3
Ensembl transcript ID ENST00000396285
Genbank transcript ID N/A
UniProt peptide Q9HCF6
alteration type single base exchange
alteration region CDS
DNA changes c.4652G>A
cDNA.4652G>A
g.910903G>A
AA changes R1551K Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1551
frameshift no
known variant Reference ID: rs41287373
databasehomozygous (T/T)heterozygousallele carriers
1000G137766903
ExAC45132284227355
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5711
3.7181
(flanking)4.7191
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased910906wt: 0.84 / mu: 0.93wt: GAGACTGTCCAGAAC
mu: GAAACTGTCCAGAAC		 GACT|gtcc
Donor increased910899wt: 0.86 / mu: 0.99wt: CCATGAGGAGACTGT
mu: CCATGAGGAAACTGT		 ATGA|ggag
Donor increased910900wt: 0.50 / mu: 0.55wt: CATGAGGAGACTGTC
mu: CATGAGGAAACTGTC		 TGAG|gaga
distance from splice site 50
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1551PEGRGDSLSMRRLSRTSAFQSFES
mutated  all conserved    1551PEGRGDSLSMRKLSRTSAFQS
Ptroglodytes  all identical  ENSPTRG00000021014  1633PEGRGDSLSMRRLSRTSAFQS
Mmulatta  all identical  ENSMMUG00000006156  1717PEGRGDSLSMRRLSRTSAFQSFE
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000052387  1706MRRLSRTSAFHSFE
Ggallus  no alignment  ENSGALG00000015126  n/a
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000039181  1718LEGKTDSLSMRKMAKPSAFRSFD
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
11381732TOPO_DOMCytoplasmic (Potential).lost
17301730CONFLICTK -> Q (in Ref. 6; BAC55104).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4701 / 4701
position (AA) of stopcodon in wt / mu AA sequence 1567 / 1567
position of stopcodon in wt / mu cDNA 4701 / 4701
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 1 / 1
chromosome 9
strand -1
last intron/exon boundary 3249
theoretical NMD boundary in CDS 3198
length of CDS 4701
coding sequence (CDS) position 4652
cDNA position
(for ins/del: last normal base / first normal base)		 4652
gDNA position
(for ins/del: last normal base / first normal base)		 910903
chromosomal position
(for ins/del: last normal base / first normal base)		 73150918
original gDNA sequence snippet GGACAGCCTGTCCATGAGGAGACTGTCCAGAACATCGGCTT
altered gDNA sequence snippet GGACAGCCTGTCCATGAGGAAACTGTCCAGAACATCGGCTT
original cDNA sequence snippet GGACAGCCTGTCCATGAGGAGACTGTCCAGAACATCGGCTT
altered cDNA sequence snippet GGACAGCCTGTCCATGAGGAAACTGTCCAGAACATCGGCTT
wildtype AA sequence MYVRVSFDTK PDLLLHLMTK EWQLELPKLL ISVHGGLQNF ELQPKLKQVF GKGLIKAAMT
TGAWIFTGGV NTGVIRHVGD ALKDHASKSR GKICTIGIAP WGIVENQEDL IGRDVVRPYQ
TMSNPMSKLT VLNSMHSHFI LADNGTTGKY GAEVKLRRQL EKHISLQKIN TRIGQGVPVV
ALIVEGGPNV ISIVLEYLRD TPPVPVVVCD GSGRASDILA FGHKYSEEGG LINESLRDQL
LVTIQKTFTY TRTQAQHLFI ILMECMKKKE LITVFRMGSE GHQDIDLAIL TALLKGANAS
APDQLSLALA WNRVDIARSQ IFIYGQQWPV GSLEQAMLDA LVLDRVDFVK LLIENGVSMH
RFLTISRLEE LYNTRHGPSN TLYHLVRDVK KGNLPPDYRI SLIDIGLVIE YLMGGAYRCN
YTRKRFRTLY HNLFGPKRPK ALKLLGMEDD IPLRRGRKTT KKREEEVDID LDDPEINHFP
FPFHELMVWA VLMKRQKMAL FFWQHGEEAM AKALVACKLC KAMAHEASEN DMVDDISQEL
NHNSRDFGQL AVELLDQSYK QDEQLAMKLL TYELKNWSNA TCLQLAVAAK HRDFIAHTCS
QMLLTDMWMG RLRMRKNSGL KVILGILLPP SILSLEFKNK DDMPYMSQAQ EIHLQEKEAE
EPEKPTKEKE EEDMELTAML GRNNGESSRK KDEEEVQSKH RLIPLGRKIY EFYNAPIVKF
WFYTLAYIGY LMLFNYIVLV KMERWPSTQE WIVISYIFTL GIEKMREILM SEPGKLLQKV
KVWLQEYWNV TDLIAILLFS VGMILRLQDQ PFRSDGRVIY CVNIIYWYIR LLDIFGVNKY
LGPYVMMIGK MMIDMMYFVI IMLVVLMSFG VARQAILFPN EEPSWKLAKN IFYMPYWMIY
GEVFADQIDR KQVYDSHTPK SAPCGQNETR EDGKIIQLPP CKTGAWIVPA IMACYLLVAN
ILLVNLLIAV FNNTFFEVKS ISNQVWKFQR YQLIMTFHER PVLPPPLIIF SHMTMIFQHL
CCRWRKHESD PDERDYGLKL FITDDELKKV HDFEEQCIEE YFREKDDRFN SSNDERIRVT
SERVENMSMR LEEVNEREHS MKASLQTVDI RLAQLEDLIG RMATALERLT GLERAESNKI
RSRTSSDCTD AAYIVRQSSF NSQEGNTFKL QESIDPAGEE TMSPTSPTLM PRMRSHSFYS
VNMKDKGGIE KLESIFKERS LSLHRATSSH SVAKEPKAPA APANTLAIVP DSRRPSSCID
IYVSAMDELH CDIDPLDNSV NILGLGEPSF STPVPSTAPS SSAYATLAPT DRPPSRSIDF
EDITSMDTRS FSSDYTHLPE CQNPWDSEPP MYHTIERSKS SRYLATTPFL LEEAPIVKSH
SFMFSPSRSY YANFGVPVKT AEYTSITDCI DTRCVNAPQA IADRAAFPGG LGDKVEDLTC
CHPEREAELS HPSSDSEENE AKGRRATIAI SSQEGDNSER TLSNNITVPK IERANSYSAE
EPSAPYAHTR KSFSISDKLD RQRNTASLRN PFQRSKSSKP EGRGDSLSMR RLSRTSAFQS
FESKHN*
mutated AA sequence MYVRVSFDTK PDLLLHLMTK EWQLELPKLL ISVHGGLQNF ELQPKLKQVF GKGLIKAAMT
TGAWIFTGGV NTGVIRHVGD ALKDHASKSR GKICTIGIAP WGIVENQEDL IGRDVVRPYQ
TMSNPMSKLT VLNSMHSHFI LADNGTTGKY GAEVKLRRQL EKHISLQKIN TRIGQGVPVV
ALIVEGGPNV ISIVLEYLRD TPPVPVVVCD GSGRASDILA FGHKYSEEGG LINESLRDQL
LVTIQKTFTY TRTQAQHLFI ILMECMKKKE LITVFRMGSE GHQDIDLAIL TALLKGANAS
APDQLSLALA WNRVDIARSQ IFIYGQQWPV GSLEQAMLDA LVLDRVDFVK LLIENGVSMH
RFLTISRLEE LYNTRHGPSN TLYHLVRDVK KGNLPPDYRI SLIDIGLVIE YLMGGAYRCN
YTRKRFRTLY HNLFGPKRPK ALKLLGMEDD IPLRRGRKTT KKREEEVDID LDDPEINHFP
FPFHELMVWA VLMKRQKMAL FFWQHGEEAM AKALVACKLC KAMAHEASEN DMVDDISQEL
NHNSRDFGQL AVELLDQSYK QDEQLAMKLL TYELKNWSNA TCLQLAVAAK HRDFIAHTCS
QMLLTDMWMG RLRMRKNSGL KVILGILLPP SILSLEFKNK DDMPYMSQAQ EIHLQEKEAE
EPEKPTKEKE EEDMELTAML GRNNGESSRK KDEEEVQSKH RLIPLGRKIY EFYNAPIVKF
WFYTLAYIGY LMLFNYIVLV KMERWPSTQE WIVISYIFTL GIEKMREILM SEPGKLLQKV
KVWLQEYWNV TDLIAILLFS VGMILRLQDQ PFRSDGRVIY CVNIIYWYIR LLDIFGVNKY
LGPYVMMIGK MMIDMMYFVI IMLVVLMSFG VARQAILFPN EEPSWKLAKN IFYMPYWMIY
GEVFADQIDR KQVYDSHTPK SAPCGQNETR EDGKIIQLPP CKTGAWIVPA IMACYLLVAN
ILLVNLLIAV FNNTFFEVKS ISNQVWKFQR YQLIMTFHER PVLPPPLIIF SHMTMIFQHL
CCRWRKHESD PDERDYGLKL FITDDELKKV HDFEEQCIEE YFREKDDRFN SSNDERIRVT
SERVENMSMR LEEVNEREHS MKASLQTVDI RLAQLEDLIG RMATALERLT GLERAESNKI
RSRTSSDCTD AAYIVRQSSF NSQEGNTFKL QESIDPAGEE TMSPTSPTLM PRMRSHSFYS
VNMKDKGGIE KLESIFKERS LSLHRATSSH SVAKEPKAPA APANTLAIVP DSRRPSSCID
IYVSAMDELH CDIDPLDNSV NILGLGEPSF STPVPSTAPS SSAYATLAPT DRPPSRSIDF
EDITSMDTRS FSSDYTHLPE CQNPWDSEPP MYHTIERSKS SRYLATTPFL LEEAPIVKSH
SFMFSPSRSY YANFGVPVKT AEYTSITDCI DTRCVNAPQA IADRAAFPGG LGDKVEDLTC
CHPEREAELS HPSSDSEENE AKGRRATIAI SSQEGDNSER TLSNNITVPK IERANSYSAE
EPSAPYAHTR KSFSISDKLD RQRNTASLRN PFQRSKSSKP EGRGDSLSMR KLSRTSAFQS
FESKHN*
speed 1.25 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: 0.0269275937661846 (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) chr9:73150918C>TN/A show variant in all transcripts   IGV
HGNC symbol TRPM3
Ensembl transcript ID ENST00000396292
Genbank transcript ID N/A
UniProt peptide Q9HCF6
alteration type single base exchange
alteration region CDS
DNA changes c.4691G>A
cDNA.4691G>A
g.910903G>A
AA changes R1564K Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1564
frameshift no
known variant Reference ID: rs41287373
databasehomozygous (T/T)heterozygousallele carriers
1000G137766903
ExAC45132284227355
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5711
3.7181
(flanking)4.7191
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased910906wt: 0.84 / mu: 0.93wt: GAGACTGTCCAGAAC
mu: GAAACTGTCCAGAAC		 GACT|gtcc
Donor increased910899wt: 0.86 / mu: 0.99wt: CCATGAGGAGACTGT
mu: CCATGAGGAAACTGT		 ATGA|ggag
Donor increased910900wt: 0.50 / mu: 0.55wt: CATGAGGAGACTGTC
mu: CATGAGGAAACTGTC		 TGAG|gaga
distance from splice site 50
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1564PEGRGDSLSMRRLSRTSAFQSFES
mutated  all conserved    1564SMRKLSRTSAFQSFE
Ptroglodytes  all identical  ENSPTRG00000021014  1633SMRRLSRTSAFQSFE
Mmulatta  all identical  ENSMMUG00000006156  1717SMRRLSRTSAFQSFE
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000052387  1706PEGRGDSLSMRRLSRTSAFHSFE
Ggallus  no alignment  ENSGALG00000015126  n/a
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000039181  1718LEGKTDSLSMRKMAKPSAFRSFD
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
11381732TOPO_DOMCytoplasmic (Potential).lost
17301730CONFLICTK -> Q (in Ref. 6; BAC55104).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4740 / 4740
position (AA) of stopcodon in wt / mu AA sequence 1580 / 1580
position of stopcodon in wt / mu cDNA 4740 / 4740
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 1 / 1
chromosome 9
strand -1
last intron/exon boundary 3288
theoretical NMD boundary in CDS 3237
length of CDS 4740
coding sequence (CDS) position 4691
cDNA position
(for ins/del: last normal base / first normal base)		 4691
gDNA position
(for ins/del: last normal base / first normal base)		 910903
chromosomal position
(for ins/del: last normal base / first normal base)		 73150918
original gDNA sequence snippet GGACAGCCTGTCCATGAGGAGACTGTCCAGAACATCGGCTT
altered gDNA sequence snippet GGACAGCCTGTCCATGAGGAAACTGTCCAGAACATCGGCTT
original cDNA sequence snippet GGACAGCCTGTCCATGAGGAGACTGTCCAGAACATCGGCTT
altered cDNA sequence snippet GGACAGCCTGTCCATGAGGAAACTGTCCAGAACATCGGCTT
wildtype AA sequence MYVRVSFDTK PDLLLHLMTK EWQLELPKLL ISVHGGLQNF ELQPKLKQVF GKGLIKAAMT
TGAWIFTGGV NTGVIRHVGD ALKDHASKSR GKICTIGIAP WGIVENQEDL IGRDVVRPYQ
TMSNPMSKLT VLNSMHSHFI LADNGTTGKY GAEVKLRRQL EKHISLQKIN TRCLPFFSLD
SRLFYSFWGS CQLDSVGIGQ GVPVVALIVE GGPNVISIVL EYLRDTPPVP VVVCDGSGRA
SDILAFGHKY SEEGGLINES LRDQLLVTIQ KTFTYTRTQA QHLFIILMEC MKKKELITVF
RMGSEGHQDI DLAILTALLK GANASAPDQL SLALAWNRVD IARSQIFIYG QQWPVGSLEQ
AMLDALVLDR VDFVKLLIEN GVSMHRFLTI SRLEELYNTR HGPSNTLYHL VRDVKKGNLP
PDYRISLIDI GLVIEYLMGG AYRCNYTRKR FRTLYHNLFG PKRPKALKLL GMEDDIPLRR
GRKTTKKREE EVDIDLDDPE INHFPFPFHE LMVWAVLMKR QKMALFFWQH GEEAMAKALV
ACKLCKAMAH EASENDMVDD ISQELNHNSR DFGQLAVELL DQSYKQDEQL AMKLLTYELK
NWSNATCLQL AVAAKHRDFI AHTCSQMLLT DMWMGRLRMR KNSGLKVILG ILLPPSILSL
EFKNKDDMPY MSQAQEIHLQ EKEAEEPEKP TKEKEEEDME LTAMLGRNNG ESSRKKDEEE
VQSKHRLIPL GRKIYEFYNA PIVKFWFYTL AYIGYLMLFN YIVLVKMERW PSTQEWIVIS
YIFTLGIEKM REILMSEPGK LLQKVKVWLQ EYWNVTDLIA ILLFSVGMIL RLQDQPFRSD
GRVIYCVNII YWYIRLLDIF GVNKYLGPYV MMIGKMMIDM MYFVIIMLVV LMSFGVARQA
ILFPNEEPSW KLAKNIFYMP YWMIYGEVFA DQIDPPCGQN ETREDGKIIQ LPPCKTGAWI
VPAIMACYLL VANILLVNLL IAVFNNTFFE VKSISNQVWK FQRYQLIMTF HERPVLPPPL
IIFSHMTMIF QHLCCRWRKH ESDPDERDYG LKLFITDDEL KKVHDFEEQC IEEYFREKDD
RFNSSNDERI RVTSERVENM SMRLEEVNER EHSMKASLQT VDIRLAQLED LIGRMATALE
RLTGLERAES NKIRSRTSSD CTDAAYIVRQ SSFNSQEGNT FKLQESIDPA GEETMSPTSP
TLMPRMRSHS FYSVNMKDKG GIEKLESIFK ERSLSLHRAT SSHSVAKEPK APAAPANTLA
IVPDSRRPSS CIDIYVSAMD ELHCDIDPLD NSVNILGLGE PSFSTPVPST APSSSAYATL
APTDRPPSRS IDFEDITSMD TRSFSSDYTH LPECQNPWDS EPPMYHTIER SKSSRYLATT
PFLLEEAPIV KSHSFMFSPS RSYYANFGVP VKTAEYTSIT DCIDTRCVNA PQAIADRAAF
PGGLGDKVED LTCCHPEREA ELSHPSSDSE ENEAKGRRAT IAISSQEGDN SERTLSNNIT
VPKIERANSY SAEEPSAPYA HTRKSFSISD KLDRQRNTAS LRNPFQRSKS SKPEGRGDSL
SMRRLSRTSA FQSFESKHN*
mutated AA sequence MYVRVSFDTK PDLLLHLMTK EWQLELPKLL ISVHGGLQNF ELQPKLKQVF GKGLIKAAMT
TGAWIFTGGV NTGVIRHVGD ALKDHASKSR GKICTIGIAP WGIVENQEDL IGRDVVRPYQ
TMSNPMSKLT VLNSMHSHFI LADNGTTGKY GAEVKLRRQL EKHISLQKIN TRCLPFFSLD
SRLFYSFWGS CQLDSVGIGQ GVPVVALIVE GGPNVISIVL EYLRDTPPVP VVVCDGSGRA
SDILAFGHKY SEEGGLINES LRDQLLVTIQ KTFTYTRTQA QHLFIILMEC MKKKELITVF
RMGSEGHQDI DLAILTALLK GANASAPDQL SLALAWNRVD IARSQIFIYG QQWPVGSLEQ
AMLDALVLDR VDFVKLLIEN GVSMHRFLTI SRLEELYNTR HGPSNTLYHL VRDVKKGNLP
PDYRISLIDI GLVIEYLMGG AYRCNYTRKR FRTLYHNLFG PKRPKALKLL GMEDDIPLRR
GRKTTKKREE EVDIDLDDPE INHFPFPFHE LMVWAVLMKR QKMALFFWQH GEEAMAKALV
ACKLCKAMAH EASENDMVDD ISQELNHNSR DFGQLAVELL DQSYKQDEQL AMKLLTYELK
NWSNATCLQL AVAAKHRDFI AHTCSQMLLT DMWMGRLRMR KNSGLKVILG ILLPPSILSL
EFKNKDDMPY MSQAQEIHLQ EKEAEEPEKP TKEKEEEDME LTAMLGRNNG ESSRKKDEEE
VQSKHRLIPL GRKIYEFYNA PIVKFWFYTL AYIGYLMLFN YIVLVKMERW PSTQEWIVIS
YIFTLGIEKM REILMSEPGK LLQKVKVWLQ EYWNVTDLIA ILLFSVGMIL RLQDQPFRSD
GRVIYCVNII YWYIRLLDIF GVNKYLGPYV MMIGKMMIDM MYFVIIMLVV LMSFGVARQA
ILFPNEEPSW KLAKNIFYMP YWMIYGEVFA DQIDPPCGQN ETREDGKIIQ LPPCKTGAWI
VPAIMACYLL VANILLVNLL IAVFNNTFFE VKSISNQVWK FQRYQLIMTF HERPVLPPPL
IIFSHMTMIF QHLCCRWRKH ESDPDERDYG LKLFITDDEL KKVHDFEEQC IEEYFREKDD
RFNSSNDERI RVTSERVENM SMRLEEVNER EHSMKASLQT VDIRLAQLED LIGRMATALE
RLTGLERAES NKIRSRTSSD CTDAAYIVRQ SSFNSQEGNT FKLQESIDPA GEETMSPTSP
TLMPRMRSHS FYSVNMKDKG GIEKLESIFK ERSLSLHRAT SSHSVAKEPK APAAPANTLA
IVPDSRRPSS CIDIYVSAMD ELHCDIDPLD NSVNILGLGE PSFSTPVPST APSSSAYATL
APTDRPPSRS IDFEDITSMD TRSFSSDYTH LPECQNPWDS EPPMYHTIER SKSSRYLATT
PFLLEEAPIV KSHSFMFSPS RSYYANFGVP VKTAEYTSIT DCIDTRCVNA PQAIADRAAF
PGGLGDKVED LTCCHPEREA ELSHPSSDSE ENEAKGRRAT IAISSQEGDN SERTLSNNIT
VPKIERANSY SAEEPSAPYA HTRKSFSISD KLDRQRNTAS LRNPFQRSKS SKPEGRGDSL
SMRKLSRTSA FQSFESKHN*
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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0269275937661846 (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) chr9:73150918C>TN/A show variant in all transcripts   IGV
HGNC symbol TRPM3
Ensembl transcript ID ENST00000358082
Genbank transcript ID N/A
UniProt peptide Q9HCF6
alteration type single base exchange
alteration region CDS
DNA changes c.4661G>A
cDNA.4661G>A
g.910903G>A
AA changes R1554K Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1554
frameshift no
known variant Reference ID: rs41287373
databasehomozygous (T/T)heterozygousallele carriers
1000G137766903
ExAC45132284227355
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5711
3.7181
(flanking)4.7191
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased910906wt: 0.84 / mu: 0.93wt: GAGACTGTCCAGAAC
mu: GAAACTGTCCAGAAC		 GACT|gtcc
Donor increased910899wt: 0.86 / mu: 0.99wt: CCATGAGGAGACTGT
mu: CCATGAGGAAACTGT		 ATGA|ggag
Donor increased910900wt: 0.50 / mu: 0.55wt: CATGAGGAGACTGTC
mu: CATGAGGAAACTGTC		 TGAG|gaga
distance from splice site 50
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1554PEGRGDSLSMRRLSRTSAFQSFES
mutated  all conserved    1554PEGRGDSLSMRKLSRTSA
Ptroglodytes  all identical  ENSPTRG00000021014  1633SMRRLSRTSAFQSFE
Mmulatta  all identical  ENSMMUG00000006156  1717SMRRLSRTSAFQSFE
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000052387  1706PEGRGDSLSMRRLSRTSAFHSFE
Ggallus  no alignment  ENSGALG00000015126  n/a
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000039181  1718LEGKTDSLSMRKMAKPSAFRSFD
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
11381732TOPO_DOMCytoplasmic (Potential).lost
17301730CONFLICTK -> Q (in Ref. 6; BAC55104).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4710 / 4710
position (AA) of stopcodon in wt / mu AA sequence 1570 / 1570
position of stopcodon in wt / mu cDNA 4710 / 4710
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 1 / 1
chromosome 9
strand -1
last intron/exon boundary 3258
theoretical NMD boundary in CDS 3207
length of CDS 4710
coding sequence (CDS) position 4661
cDNA position
(for ins/del: last normal base / first normal base)		 4661
gDNA position
(for ins/del: last normal base / first normal base)		 910903
chromosomal position
(for ins/del: last normal base / first normal base)		 73150918
original gDNA sequence snippet GGACAGCCTGTCCATGAGGAGACTGTCCAGAACATCGGCTT
altered gDNA sequence snippet GGACAGCCTGTCCATGAGGAAACTGTCCAGAACATCGGCTT
original cDNA sequence snippet GGACAGCCTGTCCATGAGGAGACTGTCCAGAACATCGGCTT
altered cDNA sequence snippet GGACAGCCTGTCCATGAGGAAACTGTCCAGAACATCGGCTT
wildtype AA sequence MYVRVSFDTK PDLLLHLMTK EWQLELPKLL ISVHGGLQNF ELQPKLKQVF GKGLIKAAMT
TGAWIFTGGV NTGVIRHVGD ALKDHASKSR GKICTIGIAP WGIVENQEDL IGRDVVRPYQ
TMSNPMSKLT VLNSMHSHFI LADNGTTGKY GAEVKLRRQL EKHISLQKIN TRCLPFFSLD
SRLFYSFWGS CQLDSVGIGQ GVPVVALIVE GGPNVISIVL EYLRDTPPVP VVVCDGSGRA
SDILAFGHKY SEEGGLINES LRDQLLVTIQ KTFTYTRTQA QHLFIILMEC MKKKELITVF
RMGSEGHQDI DLAILTALLK GANASAPDQL SLALAWNRVD IARSQIFIYG QQWPVGSLEQ
AMLDALVLDR VDFVKLLIEN GVSMHRFLTI SRLEELYNTR HGPSNTLYHL VRDVKKGNLP
PDYRISLIDI GLVIEYLMGG AYRCNYTRKR FRTLYHNLFG PKRDDIPLRR GRKTTKKREE
EVDIDLDDPE INHFPFPFHE LMVWAVLMKR QKMALFFWQH GEEAMAKALV ACKLCKAMAH
EASENDMVDD ISQELNHNSR DFGQLAVELL DQSYKQDEQL AMKLLTYELK NWSNATCLQL
AVAAKHRDFI AHTCSQMLLT DMWMGRLRMR KNSGLKVILG ILLPPSILSL EFKNKDDMPY
MSQAQEIHLQ EKEAEEPEKP TKEKEEEDME LTAMLGRNNG ESSRKKDEEE VQSKHRLIPL
GRKIYEFYNA PIVKFWFYTL AYIGYLMLFN YIVLVKMERW PSTQEWIVIS YIFTLGIEKM
REILMSEPGK LLQKVKVWLQ EYWNVTDLIA ILLFSVGMIL RLQDQPFRSD GRVIYCVNII
YWYIRLLDIF GVNKYLGPYV MMIGKMMIDM MYFVIIMLVV LMSFGVARQA ILFPNEEPSW
KLAKNIFYMP YWMIYGEVFA DQIDPPCGQN ETREDGKIIQ LPPCKTGAWI VPAIMACYLL
VANILLVNLL IAVFNNTFFE VKSISNQVWK FQRYQLIMTF HERPVLPPPL IIFSHMTMIF
QHLCCRWRKH ESDPDERDYG LKLFITDDEL KKVHDFEEQC IEEYFREKDD RFNSSNDERI
RVTSERVENM SMRLEEVNER EHSMKASLQT VDIRLAQLED LIGRMATALE RLTGLERAES
NKIRSRTSSD CTDAAYIVRQ SSFNSQEGNT FKLQESIDPA GEETMSPTSP TLMPRMRSHS
FYSVNMKDKG GIEKLESIFK ERSLSLHRAT SSHSVAKEPK APAAPANTLA IVPDSRRPSS
CIDIYVSAMD ELHCDIDPLD NSVNILGLGE PSFSTPVPST APSSSAYATL APTDRPPSRS
IDFEDITSMD TRSFSSDYTH LPECQNPWDS EPPMYHTIER SKSSRYLATT PFLLEEAPIV
KSHSFMFSPS RSYYANFGVP VKTAEYTSIT DCIDTRCVNA PQAIADRAAF PGGLGDKVED
LTCCHPEREA ELSHPSSDSE ENEAKGRRAT IAISSQEGDN SERTLSNNIT VPKIERANSY
SAEEPSAPYA HTRKSFSISD KLDRQRNTAS LRNPFQRSKS SKPEGRGDSL SMRRLSRTSA
FQSFESKHN*
mutated AA sequence MYVRVSFDTK PDLLLHLMTK EWQLELPKLL ISVHGGLQNF ELQPKLKQVF GKGLIKAAMT
TGAWIFTGGV NTGVIRHVGD ALKDHASKSR GKICTIGIAP WGIVENQEDL IGRDVVRPYQ
TMSNPMSKLT VLNSMHSHFI LADNGTTGKY GAEVKLRRQL EKHISLQKIN TRCLPFFSLD
SRLFYSFWGS CQLDSVGIGQ GVPVVALIVE GGPNVISIVL EYLRDTPPVP VVVCDGSGRA
SDILAFGHKY SEEGGLINES LRDQLLVTIQ KTFTYTRTQA QHLFIILMEC MKKKELITVF
RMGSEGHQDI DLAILTALLK GANASAPDQL SLALAWNRVD IARSQIFIYG QQWPVGSLEQ
AMLDALVLDR VDFVKLLIEN GVSMHRFLTI SRLEELYNTR HGPSNTLYHL VRDVKKGNLP
PDYRISLIDI GLVIEYLMGG AYRCNYTRKR FRTLYHNLFG PKRDDIPLRR GRKTTKKREE
EVDIDLDDPE INHFPFPFHE LMVWAVLMKR QKMALFFWQH GEEAMAKALV ACKLCKAMAH
EASENDMVDD ISQELNHNSR DFGQLAVELL DQSYKQDEQL AMKLLTYELK NWSNATCLQL
AVAAKHRDFI AHTCSQMLLT DMWMGRLRMR KNSGLKVILG ILLPPSILSL EFKNKDDMPY
MSQAQEIHLQ EKEAEEPEKP TKEKEEEDME LTAMLGRNNG ESSRKKDEEE VQSKHRLIPL
GRKIYEFYNA PIVKFWFYTL AYIGYLMLFN YIVLVKMERW PSTQEWIVIS YIFTLGIEKM
REILMSEPGK LLQKVKVWLQ EYWNVTDLIA ILLFSVGMIL RLQDQPFRSD GRVIYCVNII
YWYIRLLDIF GVNKYLGPYV MMIGKMMIDM MYFVIIMLVV LMSFGVARQA ILFPNEEPSW
KLAKNIFYMP YWMIYGEVFA DQIDPPCGQN ETREDGKIIQ LPPCKTGAWI VPAIMACYLL
VANILLVNLL IAVFNNTFFE VKSISNQVWK FQRYQLIMTF HERPVLPPPL IIFSHMTMIF
QHLCCRWRKH ESDPDERDYG LKLFITDDEL KKVHDFEEQC IEEYFREKDD RFNSSNDERI
RVTSERVENM SMRLEEVNER EHSMKASLQT VDIRLAQLED LIGRMATALE RLTGLERAES
NKIRSRTSSD CTDAAYIVRQ SSFNSQEGNT FKLQESIDPA GEETMSPTSP TLMPRMRSHS
FYSVNMKDKG GIEKLESIFK ERSLSLHRAT SSHSVAKEPK APAAPANTLA IVPDSRRPSS
CIDIYVSAMD ELHCDIDPLD NSVNILGLGE PSFSTPVPST APSSSAYATL APTDRPPSRS
IDFEDITSMD TRSFSSDYTH LPECQNPWDS EPPMYHTIER SKSSRYLATT PFLLEEAPIV
KSHSFMFSPS RSYYANFGVP VKTAEYTSIT DCIDTRCVNA PQAIADRAAF PGGLGDKVED
LTCCHPEREA ELSHPSSDSE ENEAKGRRAT IAISSQEGDN SERTLSNNIT VPKIERANSY
SAEEPSAPYA HTRKSFSISD KLDRQRNTAS LRNPFQRSKS SKPEGRGDSL SMRKLSRTSA
FQSFESKHN*
speed 0.25 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: 0.0269275937661846 (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) chr9:73150918C>TN/A show variant in all transcripts   IGV
HGNC symbol TRPM3
Ensembl transcript ID ENST00000377106
Genbank transcript ID NM_206946
UniProt peptide Q9HCF6
alteration type single base exchange
alteration region CDS
DNA changes c.4691G>A
cDNA.5046G>A
g.910903G>A
AA changes R1564K Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1564
frameshift no
known variant Reference ID: rs41287373
databasehomozygous (T/T)heterozygousallele carriers
1000G137766903
ExAC45132284227355
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5711
3.7181
(flanking)4.7191
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased910906wt: 0.84 / mu: 0.93wt: GAGACTGTCCAGAAC
mu: GAAACTGTCCAGAAC		 GACT|gtcc
Donor increased910899wt: 0.86 / mu: 0.99wt: CCATGAGGAGACTGT
mu: CCATGAGGAAACTGT		 ATGA|ggag
Donor increased910900wt: 0.50 / mu: 0.55wt: CATGAGGAGACTGTC
mu: CATGAGGAAACTGTC		 TGAG|gaga
distance from splice site 951
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1564PEGRGDSLSMRRLSRTSAFQSFES
mutated  all conserved    1564SMRKLSRTSAFQSFE
Ptroglodytes  all identical  ENSPTRG00000021014  1633SMRRLSRTSAFQSFE
Mmulatta  all identical  ENSMMUG00000006156  1717SMRRLSRTSAFQSFE
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000052387  1706PEGRGDSLSMRRLSRTSAFHSFE
Ggallus  no alignment  ENSGALG00000015126  n/a
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000039181  1718LEGKTDSLSMRKMAKPSAFRSFD
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
11381732TOPO_DOMCytoplasmic (Potential).lost
17301730CONFLICTK -> Q (in Ref. 6; BAC55104).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4740 / 4740
position (AA) of stopcodon in wt / mu AA sequence 1580 / 1580
position of stopcodon in wt / mu cDNA 5095 / 5095
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 356 / 356
chromosome 9
strand -1
last intron/exon boundary 3643
theoretical NMD boundary in CDS 3237
length of CDS 4740
coding sequence (CDS) position 4691
cDNA position
(for ins/del: last normal base / first normal base)		 5046
gDNA position
(for ins/del: last normal base / first normal base)		 910903
chromosomal position
(for ins/del: last normal base / first normal base)		 73150918
original gDNA sequence snippet GGACAGCCTGTCCATGAGGAGACTGTCCAGAACATCGGCTT
altered gDNA sequence snippet GGACAGCCTGTCCATGAGGAAACTGTCCAGAACATCGGCTT
original cDNA sequence snippet GGACAGCCTGTCCATGAGGAGACTGTCCAGAACATCGGCTT
altered cDNA sequence snippet GGACAGCCTGTCCATGAGGAAACTGTCCAGAACATCGGCTT
wildtype AA sequence MYVRVSFDTK PDLLLHLMTK EWQLELPKLL ISVHGGLQNF ELQPKLKQVF GKGLIKAAMT
TGAWIFTGGV NTGVIRHVGD ALKDHASKSR GKICTIGIAP WGIVENQEDL IGRDVVRPYQ
TMSNPMSKLT VLNSMHSHFI LADNGTTGKY GAEVKLRRQL EKHISLQKIN TRCLPFFSLD
SRLFYSFWGS CQLDSVGIGQ GVPVVALIVE GGPNVISIVL EYLRDTPPVP VVVCDGSGRA
SDILAFGHKY SEEGGLINES LRDQLLVTIQ KTFTYTRTQA QHLFIILMEC MKKKELITVF
RMGSEGHQDI DLAILTALLK GANASAPDQL SLALAWNRVD IARSQIFIYG QQWPVGSLEQ
AMLDALVLDR VDFVKLLIEN GVSMHRFLTI SRLEELYNTR HGPSNTLYHL VRDVKKGNLP
PDYRISLIDI GLVIEYLMGG AYRCNYTRKR FRTLYHNLFG PKRPKALKLL GMEDDIPLRR
GRKTTKKREE EVDIDLDDPE INHFPFPFHE LMVWAVLMKR QKMALFFWQH GEEAMAKALV
ACKLCKAMAH EASENDMVDD ISQELNHNSR DFGQLAVELL DQSYKQDEQL AMKLLTYELK
NWSNATCLQL AVAAKHRDFI AHTCSQMLLT DMWMGRLRMR KNSGLKVILG ILLPPSILSL
EFKNKDDMPY MSQAQEIHLQ EKEAEEPEKP TKEKEEEDME LTAMLGRNNG ESSRKKDEEE
VQSKHRLIPL GRKIYEFYNA PIVKFWFYTL AYIGYLMLFN YIVLVKMERW PSTQEWIVIS
YIFTLGIEKM REILMSEPGK LLQKVKVWLQ EYWNVTDLIA ILLFSVGMIL RLQDQPFRSD
GRVIYCVNII YWYIRLLDIF GVNKYLGPYV MMIGKMMIDM MYFVIIMLVV LMSFGVARQA
ILFPNEEPSW KLAKNIFYMP YWMIYGEVFA DQIDPPCGQN ETREDGKIIQ LPPCKTGAWI
VPAIMACYLL VANILLVNLL IAVFNNTFFE VKSISNQVWK FQRYQLIMTF HERPVLPPPL
IIFSHMTMIF QHLCCRWRKH ESDPDERDYG LKLFITDDEL KKVHDFEEQC IEEYFREKDD
RFNSSNDERI RVTSERVENM SMRLEEVNER EHSMKASLQT VDIRLAQLED LIGRMATALE
RLTGLERAES NKIRSRTSSD CTDAAYIVRQ SSFNSQEGNT FKLQESIDPA GEETMSPTSP
TLMPRMRSHS FYSVNMKDKG GIEKLESIFK ERSLSLHRAT SSHSVAKEPK APAAPANTLA
IVPDSRRPSS CIDIYVSAMD ELHCDIDPLD NSVNILGLGE PSFSTPVPST APSSSAYATL
APTDRPPSRS IDFEDITSMD TRSFSSDYTH LPECQNPWDS EPPMYHTIER SKSSRYLATT
PFLLEEAPIV KSHSFMFSPS RSYYANFGVP VKTAEYTSIT DCIDTRCVNA PQAIADRAAF
PGGLGDKVED LTCCHPEREA ELSHPSSDSE ENEAKGRRAT IAISSQEGDN SERTLSNNIT
VPKIERANSY SAEEPSAPYA HTRKSFSISD KLDRQRNTAS LRNPFQRSKS SKPEGRGDSL
SMRRLSRTSA FQSFESKHN*
mutated AA sequence MYVRVSFDTK PDLLLHLMTK EWQLELPKLL ISVHGGLQNF ELQPKLKQVF GKGLIKAAMT
TGAWIFTGGV NTGVIRHVGD ALKDHASKSR GKICTIGIAP WGIVENQEDL IGRDVVRPYQ
TMSNPMSKLT VLNSMHSHFI LADNGTTGKY GAEVKLRRQL EKHISLQKIN TRCLPFFSLD
SRLFYSFWGS CQLDSVGIGQ GVPVVALIVE GGPNVISIVL EYLRDTPPVP VVVCDGSGRA
SDILAFGHKY SEEGGLINES LRDQLLVTIQ KTFTYTRTQA QHLFIILMEC MKKKELITVF
RMGSEGHQDI DLAILTALLK GANASAPDQL SLALAWNRVD IARSQIFIYG QQWPVGSLEQ
AMLDALVLDR VDFVKLLIEN GVSMHRFLTI SRLEELYNTR HGPSNTLYHL VRDVKKGNLP
PDYRISLIDI GLVIEYLMGG AYRCNYTRKR FRTLYHNLFG PKRPKALKLL GMEDDIPLRR
GRKTTKKREE EVDIDLDDPE INHFPFPFHE LMVWAVLMKR QKMALFFWQH GEEAMAKALV
ACKLCKAMAH EASENDMVDD ISQELNHNSR DFGQLAVELL DQSYKQDEQL AMKLLTYELK
NWSNATCLQL AVAAKHRDFI AHTCSQMLLT DMWMGRLRMR KNSGLKVILG ILLPPSILSL
EFKNKDDMPY MSQAQEIHLQ EKEAEEPEKP TKEKEEEDME LTAMLGRNNG ESSRKKDEEE
VQSKHRLIPL GRKIYEFYNA PIVKFWFYTL AYIGYLMLFN YIVLVKMERW PSTQEWIVIS
YIFTLGIEKM REILMSEPGK LLQKVKVWLQ EYWNVTDLIA ILLFSVGMIL RLQDQPFRSD
GRVIYCVNII YWYIRLLDIF GVNKYLGPYV MMIGKMMIDM MYFVIIMLVV LMSFGVARQA
ILFPNEEPSW KLAKNIFYMP YWMIYGEVFA DQIDPPCGQN ETREDGKIIQ LPPCKTGAWI
VPAIMACYLL VANILLVNLL IAVFNNTFFE VKSISNQVWK FQRYQLIMTF HERPVLPPPL
IIFSHMTMIF QHLCCRWRKH ESDPDERDYG LKLFITDDEL KKVHDFEEQC IEEYFREKDD
RFNSSNDERI RVTSERVENM SMRLEEVNER EHSMKASLQT VDIRLAQLED LIGRMATALE
RLTGLERAES NKIRSRTSSD CTDAAYIVRQ SSFNSQEGNT FKLQESIDPA GEETMSPTSP
TLMPRMRSHS FYSVNMKDKG GIEKLESIFK ERSLSLHRAT SSHSVAKEPK APAAPANTLA
IVPDSRRPSS CIDIYVSAMD ELHCDIDPLD NSVNILGLGE PSFSTPVPST APSSSAYATL
APTDRPPSRS IDFEDITSMD TRSFSSDYTH LPECQNPWDS EPPMYHTIER SKSSRYLATT
PFLLEEAPIV KSHSFMFSPS RSYYANFGVP VKTAEYTSIT DCIDTRCVNA PQAIADRAAF
PGGLGDKVED LTCCHPEREA ELSHPSSDSE ENEAKGRRAT IAISSQEGDN SERTLSNNIT
VPKIERANSY SAEEPSAPYA HTRKSFSISD KLDRQRNTAS LRNPFQRSKS SKPEGRGDSL
SMRKLSRTSA FQSFESKHN*
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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0269275937661846 (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) chr9:73150918C>TN/A show variant in all transcripts   IGV
HGNC symbol TRPM3
Ensembl transcript ID ENST00000423814
Genbank transcript ID N/A
UniProt peptide Q9HCF6
alteration type single base exchange
alteration region CDS
DNA changes c.5156G>A
cDNA.5156G>A
g.910903G>A
AA changes R1719K Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1719
frameshift no
known variant Reference ID: rs41287373
databasehomozygous (T/T)heterozygousallele carriers
1000G137766903
ExAC45132284227355
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5711
3.7181
(flanking)4.7191
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased910906wt: 0.84 / mu: 0.93wt: GAGACTGTCCAGAAC
mu: GAAACTGTCCAGAAC		 GACT|gtcc
Donor increased910899wt: 0.86 / mu: 0.99wt: CCATGAGGAGACTGT
mu: CCATGAGGAAACTGT		 ATGA|ggag
Donor increased910900wt: 0.50 / mu: 0.55wt: CATGAGGAGACTGTC
mu: CATGAGGAAACTGTC		 TGAG|gaga
distance from splice site 50
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1719PEGRGDSLSMRRLSRTSAFQSFES
mutated  all conserved    1719PEGRGDSLSMRKLSRTSAFQSFE
Ptroglodytes  all identical  ENSPTRG00000021014  1633PEGRGDSLSMRRLSRTSAFQSFE
Mmulatta  all identical  ENSMMUG00000006156  1717PEGRGDSLSMRRLSRTSAFQSFE
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000052387  1706PEGRGDSLSMRRLSRTSAFHS
Ggallus  no alignment  ENSGALG00000015126  n/a
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000039181  1716LEGKTDSLSMRKMAKPSAFRSFD
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
11381732TOPO_DOMCytoplasmic (Potential).lost
17301730CONFLICTK -> Q (in Ref. 6; BAC55104).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5205 / 5205
position (AA) of stopcodon in wt / mu AA sequence 1735 / 1735
position of stopcodon in wt / mu cDNA 5205 / 5205
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 1 / 1
chromosome 9
strand -1
last intron/exon boundary 3753
theoretical NMD boundary in CDS 3702
length of CDS 5205
coding sequence (CDS) position 5156
cDNA position
(for ins/del: last normal base / first normal base)		 5156
gDNA position
(for ins/del: last normal base / first normal base)		 910903
chromosomal position
(for ins/del: last normal base / first normal base)		 73150918
original gDNA sequence snippet GGACAGCCTGTCCATGAGGAGACTGTCCAGAACATCGGCTT
altered gDNA sequence snippet GGACAGCCTGTCCATGAGGAAACTGTCCAGAACATCGGCTT
original cDNA sequence snippet GGACAGCCTGTCCATGAGGAGACTGTCCAGAACATCGGCTT
altered cDNA sequence snippet GGACAGCCTGTCCATGAGGAAACTGTCCAGAACATCGGCTT
wildtype AA sequence MGKKWRDAAE MERGCSDRED NAESRRRSRS ASRGRFAESW KRLSSKQGST KRSGLPSQQT
PAQKSWIERA FYKRECVHII PSTKDPHRCC CGRLIGQHVG LTPSISVLQN EKNESRLSRN
DIQSEKWSIS KHTQLSPTDA FGTIEFQGGG HSNKAMYVRV SFDTKPDLLL HLMTKEWQLE
LPKLLISVHG GLQNFELQPK LKQVFGKGLI KAAMTTGAWI FTGGVNTGVI RHVGDALKDH
ASKSRGKICT IGIAPWGIVE NQEDLIGRDV VRPYQTMSNP MSKLTVLNSM HSHFILADNG
TTGKYGAEVK LRRQLEKHIS LQKINTRCLP FFSLDSRLFY SFWGSCQLDS VGIGQGVPVV
ALIVEGGPNV ISIVLEYLRD TPPVPVVVCD GSGRASDILA FGHKYSEEGG LINESLRDQL
LVTIQKTFTY TRTQAQHLFI ILMECMKKKE LITVFRMGSE GHQDIDLAIL TALLKGANAS
APDQLSLALA WNRVDIARSQ IFIYGQQWPV GSLEQAMLDA LVLDRVDFVK LLIENGVSMH
RFLTISRLEE LYNTRHGPSN TLYHLVRDVK KGNLPPDYRI SLIDIGLVIE YLMGGAYRCN
YTRKRFRTLY HNLFGPKRPK ALKLLGMEDD IPLRRGRKTT KKREEEVDID LDDPEINHFP
FPFHELMVWA VLMKRQKMAL FFWQHGEEAM AKALVACKLC KAMAHEASEN DMVDDISQEL
NHNSRDFGQL AVELLDQSYK QDEQLAMKLL TYELKNWSNA TCLQLAVAAK HRDFIAHTCS
QMLLTDMWMG RLRMRKNSGL KVILGILLPP SILSLEFKNK DDMPYMSQAQ EIHLQEKEAE
EPEKPTKEKE EEDMELTAML GRNNGESSRK KDEEEVQSKH RLIPLGRKIY EFYNAPIVKF
WFYTLAYIGY LMLFNYIVLV KMERWPSTQE WIVISYIFTL GIEKMREILM SEPGKLLQKV
KVWLQEYWNV TDLIAILLFS VGMILRLQDQ PFRSDGRVIY CVNIIYWYIR LLDIFGVNKY
LGPYVMMIGK MMIDMMYFVI IMLVVLMSFG VARQAILFPN EEPSWKLAKN IFYMPYWMIY
GEVFADQIDP PCGQNETRED GKIIQLPPCK TGAWIVPAIM ACYLLVANIL LVNLLIAVFN
NTFFEVKSIS NQVWKFQRYQ LIMTFHERPV LPPPLIIFSH MTMIFQHLCC RWRKHESDPD
ERDYGLKLFI TDDELKKVHD FEEQCIEEYF REKDDRFNSS NDERIRVTSE RVENMSMRLE
EVNEREHSMK ASLQTVDIRL AQLEDLIGRM ATALERLTGL ERAESNKIRS RTSSDCTDAA
YIVRQSSFNS QEGNTFKLQE SIDPAGEETM SPTSPTLMPR MRSHSFYSVN MKDKGGIEKL
ESIFKERSLS LHRATSSHSV AKEPKAPAAP ANTLAIVPDS RRPSSCIDIY VSAMDELHCD
IDPLDNSVNI LGLGEPSFST PVPSTAPSSS AYATLAPTDR PPSRSIDFED ITSMDTRSFS
SDYTHLPECQ NPWDSEPPMY HTIERSKSSR YLATTPFLLE EAPIVKSHSF MFSPSRSYYA
NFGVPVKTAE YTSITDCIDT RCVNAPQAIA DRAAFPGGLG DKVEDLTCCH PEREAELSHP
SSDSEENEAK GRRATIAISS QEGDNSERTL SNNITVPKIE RANSYSAEEP SAPYAHTRKS
FSISDKLDRQ RNTASLRNPF QRSKSSKPEG RGDSLSMRRL SRTSAFQSFE SKHN*
mutated AA sequence MGKKWRDAAE MERGCSDRED NAESRRRSRS ASRGRFAESW KRLSSKQGST KRSGLPSQQT
PAQKSWIERA FYKRECVHII PSTKDPHRCC CGRLIGQHVG LTPSISVLQN EKNESRLSRN
DIQSEKWSIS KHTQLSPTDA FGTIEFQGGG HSNKAMYVRV SFDTKPDLLL HLMTKEWQLE
LPKLLISVHG GLQNFELQPK LKQVFGKGLI KAAMTTGAWI FTGGVNTGVI RHVGDALKDH
ASKSRGKICT IGIAPWGIVE NQEDLIGRDV VRPYQTMSNP MSKLTVLNSM HSHFILADNG
TTGKYGAEVK LRRQLEKHIS LQKINTRCLP FFSLDSRLFY SFWGSCQLDS VGIGQGVPVV
ALIVEGGPNV ISIVLEYLRD TPPVPVVVCD GSGRASDILA FGHKYSEEGG LINESLRDQL
LVTIQKTFTY TRTQAQHLFI ILMECMKKKE LITVFRMGSE GHQDIDLAIL TALLKGANAS
APDQLSLALA WNRVDIARSQ IFIYGQQWPV GSLEQAMLDA LVLDRVDFVK LLIENGVSMH
RFLTISRLEE LYNTRHGPSN TLYHLVRDVK KGNLPPDYRI SLIDIGLVIE YLMGGAYRCN
YTRKRFRTLY HNLFGPKRPK ALKLLGMEDD IPLRRGRKTT KKREEEVDID LDDPEINHFP
FPFHELMVWA VLMKRQKMAL FFWQHGEEAM AKALVACKLC KAMAHEASEN DMVDDISQEL
NHNSRDFGQL AVELLDQSYK QDEQLAMKLL TYELKNWSNA TCLQLAVAAK HRDFIAHTCS
QMLLTDMWMG RLRMRKNSGL KVILGILLPP SILSLEFKNK DDMPYMSQAQ EIHLQEKEAE
EPEKPTKEKE EEDMELTAML GRNNGESSRK KDEEEVQSKH RLIPLGRKIY EFYNAPIVKF
WFYTLAYIGY LMLFNYIVLV KMERWPSTQE WIVISYIFTL GIEKMREILM SEPGKLLQKV
KVWLQEYWNV TDLIAILLFS VGMILRLQDQ PFRSDGRVIY CVNIIYWYIR LLDIFGVNKY
LGPYVMMIGK MMIDMMYFVI IMLVVLMSFG VARQAILFPN EEPSWKLAKN IFYMPYWMIY
GEVFADQIDP PCGQNETRED GKIIQLPPCK TGAWIVPAIM ACYLLVANIL LVNLLIAVFN
NTFFEVKSIS NQVWKFQRYQ LIMTFHERPV LPPPLIIFSH MTMIFQHLCC RWRKHESDPD
ERDYGLKLFI TDDELKKVHD FEEQCIEEYF REKDDRFNSS NDERIRVTSE RVENMSMRLE
EVNEREHSMK ASLQTVDIRL AQLEDLIGRM ATALERLTGL ERAESNKIRS RTSSDCTDAA
YIVRQSSFNS QEGNTFKLQE SIDPAGEETM SPTSPTLMPR MRSHSFYSVN MKDKGGIEKL
ESIFKERSLS LHRATSSHSV AKEPKAPAAP ANTLAIVPDS RRPSSCIDIY VSAMDELHCD
IDPLDNSVNI LGLGEPSFST PVPSTAPSSS AYATLAPTDR PPSRSIDFED ITSMDTRSFS
SDYTHLPECQ NPWDSEPPMY HTIERSKSSR YLATTPFLLE EAPIVKSHSF MFSPSRSYYA
NFGVPVKTAE YTSITDCIDT RCVNAPQAIA DRAAFPGGLG DKVEDLTCCH PEREAELSHP
SSDSEENEAK GRRATIAISS QEGDNSERTL SNNITVPKIE RANSYSAEEP SAPYAHTRKS
FSISDKLDRQ RNTASLRNPF QRSKSSKPEG RGDSLSMRKL SRTSAFQSFE SKHN*
speed 1.19 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: 0.0269275937661846 (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) chr9:73150918C>TN/A show variant in all transcripts   IGV
HGNC symbol TRPM3
Ensembl transcript ID ENST00000360823
Genbank transcript ID NM_206947
UniProt peptide Q9HCF6
alteration type single base exchange
alteration region CDS
DNA changes c.4661G>A
cDNA.5016G>A
g.910903G>A
AA changes R1554K Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1554
frameshift no
known variant Reference ID: rs41287373
databasehomozygous (T/T)heterozygousallele carriers
1000G137766903
ExAC45132284227355
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5711
3.7181
(flanking)4.7191
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased910906wt: 0.84 / mu: 0.93wt: GAGACTGTCCAGAAC
mu: GAAACTGTCCAGAAC		 GACT|gtcc
Donor increased910899wt: 0.86 / mu: 0.99wt: CCATGAGGAGACTGT
mu: CCATGAGGAAACTGT		 ATGA|ggag
Donor increased910900wt: 0.50 / mu: 0.55wt: CATGAGGAGACTGTC
mu: CATGAGGAAACTGTC		 TGAG|gaga
distance from splice site 951
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1554PEGRGDSLSMRRLSRTSAFQSFES
mutated  all conserved    1554PEGRGDSLSMRKLSRTSA
Ptroglodytes  all identical  ENSPTRG00000021014  1633SMRRLSRTSAFQSFE
Mmulatta  all identical  ENSMMUG00000006156  1717SMRRLSRTSAFQSFE
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000052387  1706PEGRGDSLSMRRLSRTSAFHSFE
Ggallus  no alignment  ENSGALG00000015126  n/a
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000039181  1718LEGKTDSLSMRKMAKPSAFRSFD
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
11381732TOPO_DOMCytoplasmic (Potential).lost
17301730CONFLICTK -> Q (in Ref. 6; BAC55104).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4710 / 4710
position (AA) of stopcodon in wt / mu AA sequence 1570 / 1570
position of stopcodon in wt / mu cDNA 5065 / 5065
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 356 / 356
chromosome 9
strand -1
last intron/exon boundary 3613
theoretical NMD boundary in CDS 3207
length of CDS 4710
coding sequence (CDS) position 4661
cDNA position
(for ins/del: last normal base / first normal base)		 5016
gDNA position
(for ins/del: last normal base / first normal base)		 910903
chromosomal position
(for ins/del: last normal base / first normal base)		 73150918
original gDNA sequence snippet GGACAGCCTGTCCATGAGGAGACTGTCCAGAACATCGGCTT
altered gDNA sequence snippet GGACAGCCTGTCCATGAGGAAACTGTCCAGAACATCGGCTT
original cDNA sequence snippet GGACAGCCTGTCCATGAGGAGACTGTCCAGAACATCGGCTT
altered cDNA sequence snippet GGACAGCCTGTCCATGAGGAAACTGTCCAGAACATCGGCTT
wildtype AA sequence MYVRVSFDTK PDLLLHLMTK EWQLELPKLL ISVHGGLQNF ELQPKLKQVF GKGLIKAAMT
TGAWIFTGGV NTGVIRHVGD ALKDHASKSR GKICTIGIAP WGIVENQEDL IGRDVVRPYQ
TMSNPMSKLT VLNSMHSHFI LADNGTTGKY GAEVKLRRQL EKHISLQKIN TRCLPFFSLD
SRLFYSFWGS CQLDSVGIGQ GVPVVALIVE GGPNVISIVL EYLRDTPPVP VVVCDGSGRA
SDILAFGHKY SEEGGLINES LRDQLLVTIQ KTFTYTRTQA QHLFIILMEC MKKKELITVF
RMGSEGHQDI DLAILTALLK GANASAPDQL SLALAWNRVD IARSQIFIYG QQWPVGSLEQ
AMLDALVLDR VDFVKLLIEN GVSMHRFLTI SRLEELYNTR HGPSNTLYHL VRDVKKGNLP
PDYRISLIDI GLVIEYLMGG AYRCNYTRKR FRTLYHNLFG PKRDDIPLRR GRKTTKKREE
EVDIDLDDPE INHFPFPFHE LMVWAVLMKR QKMALFFWQH GEEAMAKALV ACKLCKAMAH
EASENDMVDD ISQELNHNSR DFGQLAVELL DQSYKQDEQL AMKLLTYELK NWSNATCLQL
AVAAKHRDFI AHTCSQMLLT DMWMGRLRMR KNSGLKVILG ILLPPSILSL EFKNKDDMPY
MSQAQEIHLQ EKEAEEPEKP TKEKEEEDME LTAMLGRNNG ESSRKKDEEE VQSKHRLIPL
GRKIYEFYNA PIVKFWFYTL AYIGYLMLFN YIVLVKMERW PSTQEWIVIS YIFTLGIEKM
REILMSEPGK LLQKVKVWLQ EYWNVTDLIA ILLFSVGMIL RLQDQPFRSD GRVIYCVNII
YWYIRLLDIF GVNKYLGPYV MMIGKMMIDM MYFVIIMLVV LMSFGVARQA ILFPNEEPSW
KLAKNIFYMP YWMIYGEVFA DQIDPPCGQN ETREDGKIIQ LPPCKTGAWI VPAIMACYLL
VANILLVNLL IAVFNNTFFE VKSISNQVWK FQRYQLIMTF HERPVLPPPL IIFSHMTMIF
QHLCCRWRKH ESDPDERDYG LKLFITDDEL KKVHDFEEQC IEEYFREKDD RFNSSNDERI
RVTSERVENM SMRLEEVNER EHSMKASLQT VDIRLAQLED LIGRMATALE RLTGLERAES
NKIRSRTSSD CTDAAYIVRQ SSFNSQEGNT FKLQESIDPA GEETMSPTSP TLMPRMRSHS
FYSVNMKDKG GIEKLESIFK ERSLSLHRAT SSHSVAKEPK APAAPANTLA IVPDSRRPSS
CIDIYVSAMD ELHCDIDPLD NSVNILGLGE PSFSTPVPST APSSSAYATL APTDRPPSRS
IDFEDITSMD TRSFSSDYTH LPECQNPWDS EPPMYHTIER SKSSRYLATT PFLLEEAPIV
KSHSFMFSPS RSYYANFGVP VKTAEYTSIT DCIDTRCVNA PQAIADRAAF PGGLGDKVED
LTCCHPEREA ELSHPSSDSE ENEAKGRRAT IAISSQEGDN SERTLSNNIT VPKIERANSY
SAEEPSAPYA HTRKSFSISD KLDRQRNTAS LRNPFQRSKS SKPEGRGDSL SMRRLSRTSA
FQSFESKHN*
mutated AA sequence MYVRVSFDTK PDLLLHLMTK EWQLELPKLL ISVHGGLQNF ELQPKLKQVF GKGLIKAAMT
TGAWIFTGGV NTGVIRHVGD ALKDHASKSR GKICTIGIAP WGIVENQEDL IGRDVVRPYQ
TMSNPMSKLT VLNSMHSHFI LADNGTTGKY GAEVKLRRQL EKHISLQKIN TRCLPFFSLD
SRLFYSFWGS CQLDSVGIGQ GVPVVALIVE GGPNVISIVL EYLRDTPPVP VVVCDGSGRA
SDILAFGHKY SEEGGLINES LRDQLLVTIQ KTFTYTRTQA QHLFIILMEC MKKKELITVF
RMGSEGHQDI DLAILTALLK GANASAPDQL SLALAWNRVD IARSQIFIYG QQWPVGSLEQ
AMLDALVLDR VDFVKLLIEN GVSMHRFLTI SRLEELYNTR HGPSNTLYHL VRDVKKGNLP
PDYRISLIDI GLVIEYLMGG AYRCNYTRKR FRTLYHNLFG PKRDDIPLRR GRKTTKKREE
EVDIDLDDPE INHFPFPFHE LMVWAVLMKR QKMALFFWQH GEEAMAKALV ACKLCKAMAH
EASENDMVDD ISQELNHNSR DFGQLAVELL DQSYKQDEQL AMKLLTYELK NWSNATCLQL
AVAAKHRDFI AHTCSQMLLT DMWMGRLRMR KNSGLKVILG ILLPPSILSL EFKNKDDMPY
MSQAQEIHLQ EKEAEEPEKP TKEKEEEDME LTAMLGRNNG ESSRKKDEEE VQSKHRLIPL
GRKIYEFYNA PIVKFWFYTL AYIGYLMLFN YIVLVKMERW PSTQEWIVIS YIFTLGIEKM
REILMSEPGK LLQKVKVWLQ EYWNVTDLIA ILLFSVGMIL RLQDQPFRSD GRVIYCVNII
YWYIRLLDIF GVNKYLGPYV MMIGKMMIDM MYFVIIMLVV LMSFGVARQA ILFPNEEPSW
KLAKNIFYMP YWMIYGEVFA DQIDPPCGQN ETREDGKIIQ LPPCKTGAWI VPAIMACYLL
VANILLVNLL IAVFNNTFFE VKSISNQVWK FQRYQLIMTF HERPVLPPPL IIFSHMTMIF
QHLCCRWRKH ESDPDERDYG LKLFITDDEL KKVHDFEEQC IEEYFREKDD RFNSSNDERI
RVTSERVENM SMRLEEVNER EHSMKASLQT VDIRLAQLED LIGRMATALE RLTGLERAES
NKIRSRTSSD CTDAAYIVRQ SSFNSQEGNT FKLQESIDPA GEETMSPTSP TLMPRMRSHS
FYSVNMKDKG GIEKLESIFK ERSLSLHRAT SSHSVAKEPK APAAPANTLA IVPDSRRPSS
CIDIYVSAMD ELHCDIDPLD NSVNILGLGE PSFSTPVPST APSSSAYATL APTDRPPSRS
IDFEDITSMD TRSFSSDYTH LPECQNPWDS EPPMYHTIER SKSSRYLATT PFLLEEAPIV
KSHSFMFSPS RSYYANFGVP VKTAEYTSIT DCIDTRCVNA PQAIADRAAF PGGLGDKVED
LTCCHPEREA ELSHPSSDSE ENEAKGRRAT IAISSQEGDN SERTLSNNIT VPKIERANSY
SAEEPSAPYA HTRKSFSISD KLDRQRNTAS LRNPFQRSKS SKPEGRGDSL SMRKLSRTSA
FQSFESKHN*
speed 0.22 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: 0.0269275937661846 (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) chr9:73150918C>TN/A show variant in all transcripts   IGV
HGNC symbol TRPM3
Ensembl transcript ID ENST00000377105
Genbank transcript ID NM_024971
UniProt peptide Q9HCF6
alteration type single base exchange
alteration region CDS
DNA changes c.4652G>A
cDNA.5007G>A
g.910903G>A
AA changes R1551K Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1551
frameshift no
known variant Reference ID: rs41287373
databasehomozygous (T/T)heterozygousallele carriers
1000G137766903
ExAC45132284227355
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5711
3.7181
(flanking)4.7191
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased910906wt: 0.84 / mu: 0.93wt: GAGACTGTCCAGAAC
mu: GAAACTGTCCAGAAC		 GACT|gtcc
Donor increased910899wt: 0.86 / mu: 0.99wt: CCATGAGGAGACTGT
mu: CCATGAGGAAACTGT		 ATGA|ggag
Donor increased910900wt: 0.50 / mu: 0.55wt: CATGAGGAGACTGTC
mu: CATGAGGAAACTGTC		 TGAG|gaga
distance from splice site 951
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1551PEGRGDSLSMRRLSRTSAFQSFES
mutated  all conserved    1551PEGRGDSLSMRKLSRTSAFQS
Ptroglodytes  all identical  ENSPTRG00000021014  1633PEGRGDSLSMRRLSRTSAFQS
Mmulatta  all identical  ENSMMUG00000006156  1717PEGRGDSLSMRRLSRTSAFQSFE
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000052387  1706PEGRGDSLSMRRLSRTSAFHS
Ggallus  no alignment  ENSGALG00000015126  n/a
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000039181  1718LEGKTDSLSMRKMAKPSAFRSFD
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
11381732TOPO_DOMCytoplasmic (Potential).lost
17301730CONFLICTK -> Q (in Ref. 6; BAC55104).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4701 / 4701
position (AA) of stopcodon in wt / mu AA sequence 1567 / 1567
position of stopcodon in wt / mu cDNA 5056 / 5056
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 356 / 356
chromosome 9
strand -1
last intron/exon boundary 3604
theoretical NMD boundary in CDS 3198
length of CDS 4701
coding sequence (CDS) position 4652
cDNA position
(for ins/del: last normal base / first normal base)		 5007
gDNA position
(for ins/del: last normal base / first normal base)		 910903
chromosomal position
(for ins/del: last normal base / first normal base)		 73150918
original gDNA sequence snippet GGACAGCCTGTCCATGAGGAGACTGTCCAGAACATCGGCTT
altered gDNA sequence snippet GGACAGCCTGTCCATGAGGAAACTGTCCAGAACATCGGCTT
original cDNA sequence snippet GGACAGCCTGTCCATGAGGAGACTGTCCAGAACATCGGCTT
altered cDNA sequence snippet GGACAGCCTGTCCATGAGGAAACTGTCCAGAACATCGGCTT
wildtype AA sequence MYVRVSFDTK PDLLLHLMTK EWQLELPKLL ISVHGGLQNF ELQPKLKQVF GKGLIKAAMT
TGAWIFTGGV NTGVIRHVGD ALKDHASKSR GKICTIGIAP WGIVENQEDL IGRDVVRPYQ
TMSNPMSKLT VLNSMHSHFI LADNGTTGKY GAEVKLRRQL EKHISLQKIN TRIGQGVPVV
ALIVEGGPNV ISIVLEYLRD TPPVPVVVCD GSGRASDILA FGHKYSEEGG LINESLRDQL
LVTIQKTFTY TRTQAQHLFI ILMECMKKKE LITVFRMGSE GHQDIDLAIL TALLKGANAS
APDQLSLALA WNRVDIARSQ IFIYGQQWPV GSLEQAMLDA LVLDRVDFVK LLIENGVSMH
RFLTISRLEE LYNTRHGPSN TLYHLVRDVK KREYPGFGWI YFKGNLPPDY RISLIDIGLV
IEYLMGGAYR CNYTRKRFRT LYHNLFGPKR PKALKLLGME DDIPLRRGRK TTKKREEEVD
IDLDDPEINH FPFPFHELMV WAVLMKRQKM ALFFWQHGEE AMAKALVACK LCKAMAHEAS
ENDMVDDISQ ELNHNSRDFG QLAVELLDQS YKQDEQLAMK LLTYELKNWS NATCLQLAVA
AKHRDFIAHT CSQMLLTDMW MGRLRMRKNS GLKVILGILL PPSILSLEFK NKDDMPYMSQ
AQEIHLQEKE AEEPEKPTKE KEEEDMELTA MLGRNNGESS RKKDEEEVQS KHRLIPLGRK
IYEFYNAPIV KFWFYTLAYI GYLMLFNYIV LVKMERWPST QEWIVISYIF TLGIEKMREI
LMSEPGKLLQ KVKVWLQEYW NVTDLIAILL FSVGMILRLQ DQPFRSDGRV IYCVNIIYWY
IRLLDIFGVN KYLGPYVMMI GKMMIDMMYF VIIMLVVLMS FGVARQAILF PNEEPSWKLA
KNIFYMPYWM IYGEVFADQI DPPCGQNETR EDGKIIQLPP CKTGAWIVPA IMACYLLVAN
ILLVNLLIAV FNNTFFEVKS ISNQVWKFQR YQLIMTFHER PVLPPPLIIF SHMTMIFQHL
CCRWRKHESD PDERDYGLKL FITDDELKKV HDFEEQCIEE YFREKDDRFN SSNDERIRVT
SERVENMSMR LEEVNEREHS MKASLQTVDI RLAQLEDLIG RMATALERLT GLERAESNKI
RSRTSSDCTD AAYIVRQSSF NSQEGNTFKL QESIDPAGEE TMSPTSPTLM PRMRSHSFYS
VNMKDKGGIE KLESIFKERS LSLHRATSSH SVAKEPKAPA APANTLAIVP DSRRPSSCID
IYVSAMDELH CDIDPLDNSV NILGLGEPSF STPVPSTAPS SSAYATLAPT DRPPSRSIDF
EDITSMDTRS FSSDYTHLPE CQNPWDSEPP MYHTIERSKS SRYLATTPFL LEEAPIVKSH
SFMFSPSRSY YANFGVPVKT AEYTSITDCI DTRCVNAPQA IADRAAFPGG LGDKVEDLTC
CHPEREAELS HPSSDSEENE AKGRRATIAI SSQEGDNSER TLSNNITVPK IERANSYSAE
EPSAPYAHTR KSFSISDKLD RQRNTASLRN PFQRSKSSKP EGRGDSLSMR RLSRTSAFQS
FESKHN*
mutated AA sequence MYVRVSFDTK PDLLLHLMTK EWQLELPKLL ISVHGGLQNF ELQPKLKQVF GKGLIKAAMT
TGAWIFTGGV NTGVIRHVGD ALKDHASKSR GKICTIGIAP WGIVENQEDL IGRDVVRPYQ
TMSNPMSKLT VLNSMHSHFI LADNGTTGKY GAEVKLRRQL EKHISLQKIN TRIGQGVPVV
ALIVEGGPNV ISIVLEYLRD TPPVPVVVCD GSGRASDILA FGHKYSEEGG LINESLRDQL
LVTIQKTFTY TRTQAQHLFI ILMECMKKKE LITVFRMGSE GHQDIDLAIL TALLKGANAS
APDQLSLALA WNRVDIARSQ IFIYGQQWPV GSLEQAMLDA LVLDRVDFVK LLIENGVSMH
RFLTISRLEE LYNTRHGPSN TLYHLVRDVK KREYPGFGWI YFKGNLPPDY RISLIDIGLV
IEYLMGGAYR CNYTRKRFRT LYHNLFGPKR PKALKLLGME DDIPLRRGRK TTKKREEEVD
IDLDDPEINH FPFPFHELMV WAVLMKRQKM ALFFWQHGEE AMAKALVACK LCKAMAHEAS
ENDMVDDISQ ELNHNSRDFG QLAVELLDQS YKQDEQLAMK LLTYELKNWS NATCLQLAVA
AKHRDFIAHT CSQMLLTDMW MGRLRMRKNS GLKVILGILL PPSILSLEFK NKDDMPYMSQ
AQEIHLQEKE AEEPEKPTKE KEEEDMELTA MLGRNNGESS RKKDEEEVQS KHRLIPLGRK
IYEFYNAPIV KFWFYTLAYI GYLMLFNYIV LVKMERWPST QEWIVISYIF TLGIEKMREI
LMSEPGKLLQ KVKVWLQEYW NVTDLIAILL FSVGMILRLQ DQPFRSDGRV IYCVNIIYWY
IRLLDIFGVN KYLGPYVMMI GKMMIDMMYF VIIMLVVLMS FGVARQAILF PNEEPSWKLA
KNIFYMPYWM IYGEVFADQI DPPCGQNETR EDGKIIQLPP CKTGAWIVPA IMACYLLVAN
ILLVNLLIAV FNNTFFEVKS ISNQVWKFQR YQLIMTFHER PVLPPPLIIF SHMTMIFQHL
CCRWRKHESD PDERDYGLKL FITDDELKKV HDFEEQCIEE YFREKDDRFN SSNDERIRVT
SERVENMSMR LEEVNEREHS MKASLQTVDI RLAQLEDLIG RMATALERLT GLERAESNKI
RSRTSSDCTD AAYIVRQSSF NSQEGNTFKL QESIDPAGEE TMSPTSPTLM PRMRSHSFYS
VNMKDKGGIE KLESIFKERS LSLHRATSSH SVAKEPKAPA APANTLAIVP DSRRPSSCID
IYVSAMDELH CDIDPLDNSV NILGLGEPSF STPVPSTAPS SSAYATLAPT DRPPSRSIDF
EDITSMDTRS FSSDYTHLPE CQNPWDSEPP MYHTIERSKS SRYLATTPFL LEEAPIVKSH
SFMFSPSRSY YANFGVPVKT AEYTSITDCI DTRCVNAPQA IADRAAFPGG LGDKVEDLTC
CHPEREAELS HPSSDSEENE AKGRRATIAI SSQEGDNSER TLSNNITVPK IERANSYSAE
EPSAPYAHTR KSFSISDKLD RQRNTASLRN PFQRSKSSKP EGRGDSLSMR KLSRTSAFQS
FESKHN*
speed 0.22 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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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 2.24769741181696e-37 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr9:73150918C>TN/A show variant in all transcripts   IGV
HGNC symbol TRPM3
Ensembl transcript ID ENST00000377111
Genbank transcript ID N/A
UniProt peptide Q9HCF6
alteration type single base exchange
alteration region intron
DNA changes g.910903G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs41287373
databasehomozygous (T/T)heterozygousallele carriers
1000G137766903
ExAC45132284227355
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5711
3.7181
(flanking)4.7191
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased910906wt: 0.84 / mu: 0.93wt: GAGACTGTCCAGAAC
mu: GAAACTGTCCAGAAC		 GACT|gtcc
Donor increased910899wt: 0.86 / mu: 0.99wt: CCATGAGGAGACTGT
mu: CCATGAGGAAACTGT		 ATGA|ggag
Donor increased910900wt: 0.50 / mu: 0.55wt: CATGAGGAGACTGTC
mu: CATGAGGAAACTGTC		 TGAG|gaga
distance from splice site 551
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
11381732TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
17301730CONFLICTK -> Q (in Ref. 6; BAC55104).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 245 / 245
chromosome 9
strand -1
last intron/exon boundary 4200
theoretical NMD boundary in CDS 3905
length of CDS 3978
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 910903
chromosomal position
(for ins/del: last normal base / first normal base)		 73150918
original gDNA sequence snippet GGACAGCCTGTCCATGAGGAGACTGTCCAGAACATCGGCTT
altered gDNA sequence snippet GGACAGCCTGTCCATGAGGAAACTGTCCAGAACATCGGCTT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MPEPWGTVYF LGIAQVFSFL FSWWNLEGVM NQADAPRPLN WTIRKLCHAA FLPSVRLLKA
QKSWIERAFY KRECVHIIPS TKDPHRCCCG RLIGQHVGLT PSISVLQNEK NESRLSRNDI
QSEKWSISKH TQLSPTDAFG TIEFQGGGHS NKAMYVRVSF DTKPDLLLHL MTKEWQLELP
KLLISVHGGL QNFELQPKLK QVFGKGLIKA AMTTGAWIFT GGVNTGVIRH VGDALKDHAS
KSRGKICTIG IAPWGIVENQ EDLIGRDVVR PYQTMSNPMS KLTVLNSMHS HFILADNGTT
GKYGAEVKLR RQLEKHISLQ KINTRIGQGV PVVALIVEGG PNVISIVLEY LRDTPPVPVV
VCDGSGRASD ILAFGHKYSE EGGLINESLR DQLLVTIQKT FTYTRTQAQH LFIILMECMK
KKELITVFRM GSEGHQDIDL AILTALLKGA NASAPDQLSL ALAWNRVDIA RSQIFIYGQQ
WPVGSLEQAM LDALVLDRVD FVKLLIENGV SMHRFLTISR LEELYNTRHG PSNTLYHLVR
DVKKGNLPPD YRISLIDIGL VIEYLMGGAY RCNYTRKRFR TLYHNLFGPK RPKALKLLGM
EDDIPLRRGR KTTKKREEEV DIDLDDPEIN HFPFPFHELM VWAVLMKRQK MALFFWQHGE
EAMAKALVAC KLCKAMAHEA SENDMVDDIS QELNHNSRDF GQLAVELLDQ SYKQDEQLAM
KLLTYELKNW SNATCLQLAV AAKHRDFIAH TCSQMLLTDM WMGRLRMRKN SGLKVILGIL
LPPSILSLEF KNKDDMPYMS QAQEIHLQEK EAEEPEKPTK EKEEEDMELT AMLGRNNGES
SRKKDEEEVQ SKHRLIPLGR KIYEFYNAPI VKFWFYTLAY IGYLMLFNYI VLVKMERWPS
TQEWIVISYI FTLGIEKMRE ILMSEPGKLL QKVKVWLQEY WNVTDLIAIL LFSVGMILRL
QDQPFRSDGR VIYCVNIIYW YIRLLDIFGV NKYLGPYVMM IGKMMIDMMY FVIIMLVVLM
SFGVARQAIL FPNEEPSWKL AKNIFYMPYW MIYGEVFADQ IDPPCGQNET REDGKIIQLP
PCKTGAWIVP AIMACYLLVA NILLVNLLIA VFNNTFFEVK SISNQVWKFQ RYQLIMTFHE
RPVLPPPLII FSHMTMIFQH LCCRWRKHES DPDERDYGLK LFITDDELKK VHDFEEQCIE
EYFREKDDRF NSSNDERIRV TSERVENMSM RLEEVNEREH SMKASLQTVD IRLAQLEDLI
GRMATALERL TGLERAESNK IRSRTSSDCT DAAYIVRQSS FNSQEGNTFK LQESIDPAEH
PLYSV*
mutated AA sequence N/A
speed 0.93 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