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 2 transcript(s)...
Querying Taster for transcript #1: ENST00000265944
Querying Taster for transcript #2: ENST00000543632
MT speed 0 s - this script 3.229183 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
MYO3Apolymorphism_automatic3.44750006320282e-10simple_aaeaffectedI348Vsingle base exchangers3824699show file
MYO3Apolymorphism_automatic3.44750006320282e-10simple_aaeaffectedI348Vsingle base exchangers3824699show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999965525 (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) chr10:26355992A>GN/A show variant in all transcripts   IGV
HGNC symbol MYO3A
Ensembl transcript ID ENST00000265944
Genbank transcript ID NM_017433
UniProt peptide Q8NEV4
alteration type single base exchange
alteration region CDS
DNA changes c.1042A>G
cDNA.1208A>G
g.132797A>G
AA changes I348V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 348
frameshift no
known variant Reference ID: rs3824699
databasehomozygous (G/G)heterozygousallele carriers
1000G107511692244
ExAC28071-233754696
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2840.553
0.8010.564
(flanking)1.3340.569
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased132791wt: 0.74 / mu: 0.97wt: CAACCCTAGAAATTT
mu: CAACCCTAGAAGTTT		 ACCC|taga
Donor marginally increased132788wt: 0.6637 / mu: 0.6988 (marginal change - not scored)wt: TAGCAACCCTAGAAA
mu: TAGCAACCCTAGAAG		 GCAA|ccct
Donor gained1327960.47mu: CTAGAAGTTTTGGAT AGAA|gttt
distance from splice site 12
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      348LKDVDDLATLEILDENTVSEQLEK
mutated  all conserved    348LKDVDDLATLEVLDENTVSEQLE
Ptroglodytes  all conserved  ENSPTRG00000002371  348LKDVDDLATLEVLDENTVSEQLE
Mmulatta  all conserved  ENSMMUG00000012229  348PKDVDDLATLEVLDENTVSEQLE
Fcatus  all conserved  ENSFCAG00000002336  345LKDVDDLATLEVLDENTVSEQLE
Mmusculus  all conserved  ENSMUSG00000025716  356LKDVDDLATLDVLDENTVSEHLE
Ggallus  all conserved  ENSGALG00000007647  348QEDVDDLATLEVLDENTVTEQLQ
Trubripes  all conserved  ENSTRUG00000001734  354EEDADDLAALEVLDENKVTEQLQ
Drerio  all conserved  ENSDARG00000010186  348CDDADDLATLEV
Dmelanogaster  not conserved  FBgn0002938  343EKMYPEDLAALENPVDENIIESLR
Celegans  not conserved  Y11D7A.14  100YSE--DLCTLTQPNAATVLNALK
Xtropicalis  not conserved  ENSXETG00000018713  351QDDVDDLATLEALDENT
protein features
start (aa)end (aa)featuredetails 
3401041DOMAINMyosin head-like.lost
418418CONFLICTM -> I (in Ref. 1 and 2).might get lost (downstream of altered splice site)
636636CONFLICTA -> V (in Ref. 1 and 2).might get lost (downstream of altered splice site)
848851CONFLICTRDTL -> KTLV (in Ref. 2; AAF70861).might get lost (downstream of altered splice site)
886890CONFLICTTKNVI -> LKML (in Ref. 2; AAF70861).might get lost (downstream of altered splice site)
10551084DOMAINIQ 1.might get lost (downstream of altered splice site)
10821111DOMAINIQ 2.might get lost (downstream of altered splice site)
10991099CONFLICTR -> G (in Ref. 1 and 2).might get lost (downstream of altered splice site)
12171217CONFLICTS -> F (in Ref. 1 and 2).might get lost (downstream of altered splice site)
13461375DOMAINIQ 3.might get lost (downstream of altered splice site)
13551355MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13781378CONFLICTR -> K (in Ref. 1 and 2).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4851 / 4851
position (AA) of stopcodon in wt / mu AA sequence 1617 / 1617
position of stopcodon in wt / mu cDNA 5017 / 5017
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 167 / 167
chromosome 10
strand 1
last intron/exon boundary 4897
theoretical NMD boundary in CDS 4680
length of CDS 4851
coding sequence (CDS) position 1042
cDNA position
(for ins/del: last normal base / first normal base)		 1208
gDNA position
(for ins/del: last normal base / first normal base)		 132797
chromosomal position
(for ins/del: last normal base / first normal base)		 26355992
original gDNA sequence snippet ATGATTTAGCAACCCTAGAAATTTTGGATGAGGTAAGAATT
altered gDNA sequence snippet ATGATTTAGCAACCCTAGAAGTTTTGGATGAGGTAAGAATT
original cDNA sequence snippet ATGATTTAGCAACCCTAGAAATTTTGGATGAGAATACAGTC
altered cDNA sequence snippet ATGATTTAGCAACCCTAGAAGTTTTGGATGAGAATACAGTC
wildtype AA sequence MFPLIGKTII FDNFPDPSDT WEITETIGKG TYGKVFKVLN KKNGQKAAVK ILDPIHDIDE
EIEAEYNILK ALSDHPNVVR FYGIYFKKDK VNGDKLWLVL ELCSGGSVTD LVKGFLKRGE
RMSEPLIAYI LHEALMGLQH LHNNKTIHRD VKGNNILLTT EGGVKLVDFG VSAQLTSTRH
RRNTSVGTPF WMAPEVIACE QQLDTTYDAR CDTWSLGITA IELGDGDPPL ADLHPMRALF
KIPRNPPPKL RQPELWSAEF NDFISKCLTK DYEKRPTVSE LLQHKFITQI EGKDVMLQKQ
LTEFIGIHQC MGGTEKARRE RIHTKKGNFN RPLISNLKDV DDLATLEILD ENTVSEQLEK
CYSRDQIYVY VGDILIALNP FQSLGLYSTK HSKLYIGSKR TASPPHIFAM ADLGYQSMIT
YNSDQCIVIS GESGAGKTEN AHLLVQQLTV LGKANNRTLQ EKILQVNNLV EAFGNACTII
NDNSSRFGKY LEMKFTSSGA VVGAQISEYL LEKSRVIHQA IGEKNFHIFY YIYAGLAEKK
KLAHYKLPEN KPPRYLQNDH LRTVQDIMNN SFYKSQYELI EQCFKVIGFT MEQLGSIYSI
LAAILNVGNI EFSSVATEHQ IDKSHISNHT ALENCASLLC IRADELQEAL TSHCVVTRGE
TIIRPNTVEK ATDVRDAMAK TLYGRLFSWI VNCINSLLKH DSSPSGNGDE LSIGILDIFG
FENFKKNSFE QLCINIANEQ IQYYYNQHVF AWEQNEYLNE DVDARVIEYE DNWPLLDMFL
QKPMGLLSLL DEESRFPKAT DQTLVEKFEG NLKSQYFWRP KRMELSFGIH HYAGKVLYNA
SGFLAKNRDT LPTDIVLLLR SSDNSVIRQL VNHPLTKTGN LPHSKTKNVI NYQMRTSEKL
INLAKGDTGE ATRHARETTN MKTQTVASYF RYSLMDLLSK MVVGQPHFVR CIKPNSERQA
RKYDKEKVLL QLRYTGILET ARIRRLGFSH RILFANFIKR YYLLCYKSSE EPRMSPDTCA
TILEKAGLDN WALGKTKVFL KYYHVEQLNL MRKEAIDKLI LIQACVRAFL CSRRYQKIQE
KRKESAIIIQ SAARGHLVRK QRKEIVDMKN TAVTTIQTSD QEFDYKKNFE NTRESFVKKQ
AENAISANER FISAPNNKGS VSVVKTSTFK PEEETTNAVE SNNRVYQTPK KMNNVYEEEV
KQEFYLVGPE VSPKQKSVKD LEENSNLRKV EKEEAMIQSY YQRYTEERNC EESKAAYLER
KAISERPSYP VPWLAENETS FKKTLEPTLS QRSIYQNANS MEKEKKTSVV TQRAPICSQE
EGRGRLRHET VKERQVEPVT QAQEEEDKAA VFIQSKYRGY KRRQQLRKDK MSSFKHQRIV
TTPTEVARNT HNLYSYPTKH EEINNIKKKD NKDSKATSER EACGLAIFSK QISKLSEEYF
ILQKKLNEMI LSQQLKSLYL GVSHHKPINR RVSSQQCLSG VCKGEEPKIL RPPRRPRKPK
TLNNPEDSTY YYLLHKSIQE EKRRPRKDSQ GKLLDLEDFY YKEFLPSRSG PKEHSPSLRE
RRPQQELQNQ CIKANERCWA AESPEKEEER EPAANPYDFR RLLRKTSQRR RLVQQS*
mutated AA sequence MFPLIGKTII FDNFPDPSDT WEITETIGKG TYGKVFKVLN KKNGQKAAVK ILDPIHDIDE
EIEAEYNILK ALSDHPNVVR FYGIYFKKDK VNGDKLWLVL ELCSGGSVTD LVKGFLKRGE
RMSEPLIAYI LHEALMGLQH LHNNKTIHRD VKGNNILLTT EGGVKLVDFG VSAQLTSTRH
RRNTSVGTPF WMAPEVIACE QQLDTTYDAR CDTWSLGITA IELGDGDPPL ADLHPMRALF
KIPRNPPPKL RQPELWSAEF NDFISKCLTK DYEKRPTVSE LLQHKFITQI EGKDVMLQKQ
LTEFIGIHQC MGGTEKARRE RIHTKKGNFN RPLISNLKDV DDLATLEVLD ENTVSEQLEK
CYSRDQIYVY VGDILIALNP FQSLGLYSTK HSKLYIGSKR TASPPHIFAM ADLGYQSMIT
YNSDQCIVIS GESGAGKTEN AHLLVQQLTV LGKANNRTLQ EKILQVNNLV EAFGNACTII
NDNSSRFGKY LEMKFTSSGA VVGAQISEYL LEKSRVIHQA IGEKNFHIFY YIYAGLAEKK
KLAHYKLPEN KPPRYLQNDH LRTVQDIMNN SFYKSQYELI EQCFKVIGFT MEQLGSIYSI
LAAILNVGNI EFSSVATEHQ IDKSHISNHT ALENCASLLC IRADELQEAL TSHCVVTRGE
TIIRPNTVEK ATDVRDAMAK TLYGRLFSWI VNCINSLLKH DSSPSGNGDE LSIGILDIFG
FENFKKNSFE QLCINIANEQ IQYYYNQHVF AWEQNEYLNE DVDARVIEYE DNWPLLDMFL
QKPMGLLSLL DEESRFPKAT DQTLVEKFEG NLKSQYFWRP KRMELSFGIH HYAGKVLYNA
SGFLAKNRDT LPTDIVLLLR SSDNSVIRQL VNHPLTKTGN LPHSKTKNVI NYQMRTSEKL
INLAKGDTGE ATRHARETTN MKTQTVASYF RYSLMDLLSK MVVGQPHFVR CIKPNSERQA
RKYDKEKVLL QLRYTGILET ARIRRLGFSH RILFANFIKR YYLLCYKSSE EPRMSPDTCA
TILEKAGLDN WALGKTKVFL KYYHVEQLNL MRKEAIDKLI LIQACVRAFL CSRRYQKIQE
KRKESAIIIQ SAARGHLVRK QRKEIVDMKN TAVTTIQTSD QEFDYKKNFE NTRESFVKKQ
AENAISANER FISAPNNKGS VSVVKTSTFK PEEETTNAVE SNNRVYQTPK KMNNVYEEEV
KQEFYLVGPE VSPKQKSVKD LEENSNLRKV EKEEAMIQSY YQRYTEERNC EESKAAYLER
KAISERPSYP VPWLAENETS FKKTLEPTLS QRSIYQNANS MEKEKKTSVV TQRAPICSQE
EGRGRLRHET VKERQVEPVT QAQEEEDKAA VFIQSKYRGY KRRQQLRKDK MSSFKHQRIV
TTPTEVARNT HNLYSYPTKH EEINNIKKKD NKDSKATSER EACGLAIFSK QISKLSEEYF
ILQKKLNEMI LSQQLKSLYL GVSHHKPINR RVSSQQCLSG VCKGEEPKIL RPPRRPRKPK
TLNNPEDSTY YYLLHKSIQE EKRRPRKDSQ GKLLDLEDFY YKEFLPSRSG PKEHSPSLRE
RRPQQELQNQ CIKANERCWA AESPEKEEER EPAANPYDFR RLLRKTSQRR RLVQQS*
speed 0.63 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: 0.99999999965525 (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) chr10:26355992A>GN/A show variant in all transcripts   IGV
HGNC symbol MYO3A
Ensembl transcript ID ENST00000543632
Genbank transcript ID N/A
UniProt peptide Q8NEV4
alteration type single base exchange
alteration region CDS
DNA changes c.1042A>G
cDNA.1102A>G
g.132797A>G
AA changes I348V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 348
frameshift no
known variant Reference ID: rs3824699
databasehomozygous (G/G)heterozygousallele carriers
1000G107511692244
ExAC28071-233754696
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2840.553
0.8010.564
(flanking)1.3340.569
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased132791wt: 0.74 / mu: 0.97wt: CAACCCTAGAAATTT
mu: CAACCCTAGAAGTTT		 ACCC|taga
Donor marginally increased132788wt: 0.6637 / mu: 0.6988 (marginal change - not scored)wt: TAGCAACCCTAGAAA
mu: TAGCAACCCTAGAAG		 GCAA|ccct
Donor gained1327960.47mu: CTAGAAGTTTTGGAT AGAA|gttt
distance from splice site 12
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      348LKDVDDLATLEILDENTVSEQLEK
mutated  all conserved    348LKDVDDLATLEVLDENTVSEQLE
Ptroglodytes  all conserved  ENSPTRG00000002371  348LKDVDDLATLEVLDENTVSEQLE
Mmulatta  all conserved  ENSMMUG00000012229  348PKDVDDLATLEVLDENTVSEQLE
Fcatus  all conserved  ENSFCAG00000002336  345LKDVDDLATLEVLDENTVSEQLE
Mmusculus  all conserved  ENSMUSG00000025716  356LKDVDDLATLDVLDENTVSEHLE
Ggallus  all conserved  ENSGALG00000007647  348QEDVDDLATLEVLDENTVTEQLQ
Trubripes  all conserved  ENSTRUG00000001734  354EEDADDLAALEVLDENKVTEQLQ
Drerio  all conserved  ENSDARG00000010186  348CDDADDLATLEV
Dmelanogaster  not conserved  FBgn0002938  343EKMYPEDLAALENPVDENIIESLR
Celegans  not conserved  Y11D7A.14  100YSE--DLCTLTQPNAATVLNALK
Xtropicalis  not conserved  ENSXETG00000018713  351QDDVDDLATLEALDENT
protein features
start (aa)end (aa)featuredetails 
3401041DOMAINMyosin head-like.lost
418418CONFLICTM -> I (in Ref. 1 and 2).might get lost (downstream of altered splice site)
636636CONFLICTA -> V (in Ref. 1 and 2).might get lost (downstream of altered splice site)
848851CONFLICTRDTL -> KTLV (in Ref. 2; AAF70861).might get lost (downstream of altered splice site)
886890CONFLICTTKNVI -> LKML (in Ref. 2; AAF70861).might get lost (downstream of altered splice site)
10551084DOMAINIQ 1.might get lost (downstream of altered splice site)
10821111DOMAINIQ 2.might get lost (downstream of altered splice site)
10991099CONFLICTR -> G (in Ref. 1 and 2).might get lost (downstream of altered splice site)
12171217CONFLICTS -> F (in Ref. 1 and 2).might get lost (downstream of altered splice site)
13461375DOMAINIQ 3.might get lost (downstream of altered splice site)
13551355MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13781378CONFLICTR -> K (in Ref. 1 and 2).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1995 / 1995
position (AA) of stopcodon in wt / mu AA sequence 665 / 665
position of stopcodon in wt / mu cDNA 2055 / 2055
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 61 / 61
chromosome 10
strand 1
last intron/exon boundary 1837
theoretical NMD boundary in CDS 1726
length of CDS 1995
coding sequence (CDS) position 1042
cDNA position
(for ins/del: last normal base / first normal base)		 1102
gDNA position
(for ins/del: last normal base / first normal base)		 132797
chromosomal position
(for ins/del: last normal base / first normal base)		 26355992
original gDNA sequence snippet ATGATTTAGCAACCCTAGAAATTTTGGATGAGGTAAGAATT
altered gDNA sequence snippet ATGATTTAGCAACCCTAGAAGTTTTGGATGAGGTAAGAATT
original cDNA sequence snippet ATGATTTAGCAACCCTAGAAATTTTGGATGAGAATACAGTC
altered cDNA sequence snippet ATGATTTAGCAACCCTAGAAGTTTTGGATGAGAATACAGTC
wildtype AA sequence MFPLIGKTII FDNFPDPSDT WEITETIGKG TYGKVFKVLN KKNGQKAAVK ILDPIHDIDE
EIEAEYNILK ALSDHPNVVR FYGIYFKKDK VNGDKLWLVL ELCSGGSVTD LVKGFLKRGE
RMSEPLIAYI LHEALMGLQH LHNNKTIHRD VKGNNILLTT EGGVKLVDFG VSAQLTSTRH
RRNTSVGTPF WMAPEVIACE QQLDTTYDAR CDTWSLGITA IELGDGDPPL ADLHPMRALF
KIPRNPPPKL RQPELWSAEF NDFISKCLTK DYEKRPTVSE LLQHKFITQI EGKDVMLQKQ
LTEFIGIHQC MGGTEKARRE RIHTKKGNFN RPLISNLKDV DDLATLEILD ENTVSEQLEK
CYSRDQIYVY VGDILIALNP FQSLGLYSTK HSKLYIGSKR TASPPHIFAM ADLGYQSMIT
YNSDQCIVIS GESGAGKTEN AHLLVQQLTV LGKANNRTLQ EKILQVNNLV EAFGNACTII
NDNSSRFGKY LEMKFTSSGA VVGAQISEYL LEKSRVIHQA IGEKNFHIFY YIYAGLAEKK
KLAHYKLPEN KPPRYLQNDH LRTVQDIMNN SFYKSQYELI EQCFKVIGFT MEVLGGGEPR
EGGGERASSQ PLRLQEAPAQ NLPAPAPRPA VLTVQRGSHR RRKALEPAGQ QGPSRHSGAG
TSRH*
mutated AA sequence MFPLIGKTII FDNFPDPSDT WEITETIGKG TYGKVFKVLN KKNGQKAAVK ILDPIHDIDE
EIEAEYNILK ALSDHPNVVR FYGIYFKKDK VNGDKLWLVL ELCSGGSVTD LVKGFLKRGE
RMSEPLIAYI LHEALMGLQH LHNNKTIHRD VKGNNILLTT EGGVKLVDFG VSAQLTSTRH
RRNTSVGTPF WMAPEVIACE QQLDTTYDAR CDTWSLGITA IELGDGDPPL ADLHPMRALF
KIPRNPPPKL RQPELWSAEF NDFISKCLTK DYEKRPTVSE LLQHKFITQI EGKDVMLQKQ
LTEFIGIHQC MGGTEKARRE RIHTKKGNFN RPLISNLKDV DDLATLEVLD ENTVSEQLEK
CYSRDQIYVY VGDILIALNP FQSLGLYSTK HSKLYIGSKR TASPPHIFAM ADLGYQSMIT
YNSDQCIVIS GESGAGKTEN AHLLVQQLTV LGKANNRTLQ EKILQVNNLV EAFGNACTII
NDNSSRFGKY LEMKFTSSGA VVGAQISEYL LEKSRVIHQA IGEKNFHIFY YIYAGLAEKK
KLAHYKLPEN KPPRYLQNDH LRTVQDIMNN SFYKSQYELI EQCFKVIGFT MEVLGGGEPR
EGGGERASSQ PLRLQEAPAQ NLPAPAPRPA VLTVQRGSHR RRKALEPAGQ QGPSRHSGAG
TSRH*
speed 0.61 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

Problems