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 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      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 1.09 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