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 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 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 1.23 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