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 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 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 0.45 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