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 increased910900wt: 0.50 / mu: 0.55wt: CATGAGGAGACTGTC
mu: CATGAGGAAACTGTC		 TGAG|gaga
Donor increased910899wt: 0.86 / mu: 0.99wt: CCATGAGGAGACTGT
mu: CCATGAGGAAACTGT		 ATGA|ggag
Donor increased910906wt: 0.84 / mu: 0.93wt: GAGACTGTCCAGAAC
mu: GAAACTGTCCAGAAC		 GACT|gtcc
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 0.64 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