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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000355280
Querying Taster for transcript #2: ENST00000347992
Querying Taster for transcript #3: ENST00000453408
MT speed 3.42 s - this script 4.487942 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
MINK1polymorphism_automatic0.912994508505443simple_aaeaffectedV834Isingle base exchangers2302319show file
MINK1polymorphism_automatic0.9952435865625simple_aaeaffectedV863Isingle base exchangers2302319show file
MINK1polymorphism_automatic0.9952435865625simple_aaeaffectedV843Isingle base exchangers2302319show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.0870054914945568 (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) chr17:4797305G>AN/A show variant in all transcripts   IGV
HGNC symbol MINK1
Ensembl transcript ID ENST00000347992
Genbank transcript ID NM_170663
UniProt peptide Q8N4C8
alteration type single base exchange
alteration region CDS
DNA changes c.2500G>A
cDNA.2684G>A
g.60623G>A
AA changes V834I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
834
frameshift no
known variant Reference ID: rs2302319
databasehomozygous (A/A)heterozygousallele carriers
1000G200645845
ExAC20471127513322
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.0150.498
1.6390.964
(flanking)2.6591
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased60620wt: 0.38 / mu: 0.46wt: CAGACAGCGTCAGCA
mu: CAGACAGCATCAGCA
 GACA|gcgt
Donor marginally increased60616wt: 0.8408 / mu: 0.8410 (marginal change - not scored)wt: GATACAGACAGCGTC
mu: GATACAGACAGCATC
 TACA|gaca
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      834PGGRSDGDTDSVSTMVVHDVEEIT
mutated  all conserved    834PGGRSDGDTDSISTMVVH
Ptroglodytes  all identical  ENSPTRG00000008611  863PGGRSDGDTDSVSTMVVHDVEEI
Mmulatta  all identical  ENSMMUG00000002404  845PGGRSDGDTDSVSTMVVHDVEEI
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000020827  876PGGR-DGDTDSVSTMVVHDVEEI
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000016332  867TDSVNTMVVHEDE--
Drerio  all identical  ENSDARG00000035360  821P---RDADSDSVNTMVVHEEEEG
Dmelanogaster  not conserved  FBgn0010909  986PGTRTSSVLPDLLSQASPATPPRHDK
Celegans  no alignment  ZC504.4  n/a
Xtropicalis  all conserved  ENSXETG00000032292  806PSGTNGADT-SMFLLILPPPPPQ
protein features
start (aa)end (aa)featuredetails 
8661332REGIONMediates interaction with RAP2A.might get lost (downstream of altered splice site)
906906MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
916916MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
993993MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
10191306DOMAINCNH.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3912 / 3912
position (AA) of stopcodon in wt / mu AA sequence 1304 / 1304
position of stopcodon in wt / mu cDNA 4096 / 4096
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 185 / 185
chromosome 17
strand 1
last intron/exon boundary 4013
theoretical NMD boundary in CDS 3778
length of CDS 3912
coding sequence (CDS) position 2500
cDNA position
(for ins/del: last normal base / first normal base)
2684
gDNA position
(for ins/del: last normal base / first normal base)
60623
chromosomal position
(for ins/del: last normal base / first normal base)
4797305
original gDNA sequence snippet GCGATGGGGATACAGACAGCGTCAGCACCATGGTGGTCCAC
altered gDNA sequence snippet GCGATGGGGATACAGACAGCATCAGCACCATGGTGGTCCAC
original cDNA sequence snippet GCGATGGGGATACAGACAGCGTCAGCACCATGGTGGTCCAC
altered cDNA sequence snippet GCGATGGGGATACAGACAGCATCAGCACCATGGTGGTCCAC
wildtype AA sequence MGDPAPARSL DDIDLSALRD PAGIFELVEV VGNGTYGQVY KGRHVKTGQL AAIKVMDVTE
DEEEEIKQEI NMLKKYSHHR NIATYYGAFI KKSPPGNDDQ LWLVMEFCGA GSVTDLVKNT
KGNALKEDCI AYICREILRG LAHLHAHKVI HRDIKGQNVL LTENAEVKLV DFGVSAQLDR
TVGRRNTFIG TPYWMAPEVI ACDENPDATY DYRSDIWSLG ITAIEMAEGA PPLCDMHPMR
ALFLIPRNPP PRLKSKKWSK KFIDFIDTCL IKTYLSRPPT EQLLKFPFIR DQPTERQVRI
QLKDHIDRSR KKRGEKEETE YEYSGSEEED DSHGEEGEPS SIMNVPGEST LRREFLRLQQ
ENKSNSEALK QQQQLQQQQQ RDPEAHIKHL LHQRQRRIEE QKEERRRVEE QQRREREQRK
LQEKEQQRRL EDMQALRREE ERRQAEREQE YKRKQLEEQR QSERLQRQLQ QEHAYLKSLQ
QQQQQQQLQK QQQQQLLPGD RKPLYHYGRG MNPADKPAWA REVEERTRMN KQQNSPLAKS
KPGSTGPEPP IPQASPGPPG PLSQTPPMQR PVEPQEGPHK SLVAHRVPLK PYAAPVPRSQ
SLQDQPTRNL AAFPASHDPD PAIPAPTATP SARGAVIRQN SDPTSEGPGP SPNPPAWVRP
DNEAPPKVPQ RTSSIATALN TSGAGGSRPA QAVRASNPDL RRSDPGWERS DSVLPASHGH
LPQAGSLERN RVGVSSKPDS SPVLSPGNKA KPDDHRSRPG RPASYKRAIG EDFVLLKERT
LDEAPRPPKK AMDYSSSSEE VESSEDDEEE GEGGPAEGSR DTPGGRSDGD TDSVSTMVVH
DVEEITGTQP PYGGGTMVVQ RTPEEERNLL HADSNGYTNL PDVVQPSHSP TENSKGQSPP
SKDGSGDYQS RGLVKAPGKS SFTMFVDLGI YQPGGSGDSI PITALVGGEG TRLDQLQYDV
RKGSVVNVNP TNTRAHSETP EIRKYKKRFN SEILCAALWG VNLLVGTENG LMLLDRSGQG
KVYGLIGRRR FQQMDVLEGL NLLITISGKR NKLRVYYLSW LRNKILHNDP EVEKKQGWTT
VGDMEGCGHY RVVKYERIKF LVIALKSSVE VYAWAPKPYH KFMAFKSFAD LPHRPLLVDL
TVEEGQRLKV IYGSSAGFHA VDVDSGNSYD IYIPVHIQSQ ITPHAIIFLP NTDGMEMLLC
YEDEGVYVNT YGRIIKDVVL QWGEMPTSVA YICSNQIMGW GEKAIEIRSV ETGHLDGVFM
HKRAQRLKFL CERNDKVFFA SVRSGGSSQV YFMTLNRNCI MNW*
mutated AA sequence MGDPAPARSL DDIDLSALRD PAGIFELVEV VGNGTYGQVY KGRHVKTGQL AAIKVMDVTE
DEEEEIKQEI NMLKKYSHHR NIATYYGAFI KKSPPGNDDQ LWLVMEFCGA GSVTDLVKNT
KGNALKEDCI AYICREILRG LAHLHAHKVI HRDIKGQNVL LTENAEVKLV DFGVSAQLDR
TVGRRNTFIG TPYWMAPEVI ACDENPDATY DYRSDIWSLG ITAIEMAEGA PPLCDMHPMR
ALFLIPRNPP PRLKSKKWSK KFIDFIDTCL IKTYLSRPPT EQLLKFPFIR DQPTERQVRI
QLKDHIDRSR KKRGEKEETE YEYSGSEEED DSHGEEGEPS SIMNVPGEST LRREFLRLQQ
ENKSNSEALK QQQQLQQQQQ RDPEAHIKHL LHQRQRRIEE QKEERRRVEE QQRREREQRK
LQEKEQQRRL EDMQALRREE ERRQAEREQE YKRKQLEEQR QSERLQRQLQ QEHAYLKSLQ
QQQQQQQLQK QQQQQLLPGD RKPLYHYGRG MNPADKPAWA REVEERTRMN KQQNSPLAKS
KPGSTGPEPP IPQASPGPPG PLSQTPPMQR PVEPQEGPHK SLVAHRVPLK PYAAPVPRSQ
SLQDQPTRNL AAFPASHDPD PAIPAPTATP SARGAVIRQN SDPTSEGPGP SPNPPAWVRP
DNEAPPKVPQ RTSSIATALN TSGAGGSRPA QAVRASNPDL RRSDPGWERS DSVLPASHGH
LPQAGSLERN RVGVSSKPDS SPVLSPGNKA KPDDHRSRPG RPASYKRAIG EDFVLLKERT
LDEAPRPPKK AMDYSSSSEE VESSEDDEEE GEGGPAEGSR DTPGGRSDGD TDSISTMVVH
DVEEITGTQP PYGGGTMVVQ RTPEEERNLL HADSNGYTNL PDVVQPSHSP TENSKGQSPP
SKDGSGDYQS RGLVKAPGKS SFTMFVDLGI YQPGGSGDSI PITALVGGEG TRLDQLQYDV
RKGSVVNVNP TNTRAHSETP EIRKYKKRFN SEILCAALWG VNLLVGTENG LMLLDRSGQG
KVYGLIGRRR FQQMDVLEGL NLLITISGKR NKLRVYYLSW LRNKILHNDP EVEKKQGWTT
VGDMEGCGHY RVVKYERIKF LVIALKSSVE VYAWAPKPYH KFMAFKSFAD LPHRPLLVDL
TVEEGQRLKV IYGSSAGFHA VDVDSGNSYD IYIPVHIQSQ ITPHAIIFLP NTDGMEMLLC
YEDEGVYVNT YGRIIKDVVL QWGEMPTSVA YICSNQIMGW GEKAIEIRSV ETGHLDGVFM
HKRAQRLKFL CERNDKVFFA SVRSGGSSQV YFMTLNRNCI MNW*
speed 1.14 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: 0.00475641343750024 (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) chr17:4797305G>AN/A show variant in all transcripts   IGV
HGNC symbol MINK1
Ensembl transcript ID ENST00000355280
Genbank transcript ID NM_153827
UniProt peptide Q8N4C8
alteration type single base exchange
alteration region CDS
DNA changes c.2587G>A
cDNA.2783G>A
g.60623G>A
AA changes V863I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
863
frameshift no
known variant Reference ID: rs2302319
databasehomozygous (A/A)heterozygousallele carriers
1000G200645845
ExAC20471127513322
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.0150.498
1.6390.964
(flanking)2.6591
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased60620wt: 0.38 / mu: 0.46wt: CAGACAGCGTCAGCA
mu: CAGACAGCATCAGCA
 GACA|gcgt
Donor marginally increased60616wt: 0.8408 / mu: 0.8410 (marginal change - not scored)wt: GATACAGACAGCGTC
mu: GATACAGACAGCATC
 TACA|gaca
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      863PGGRSDGDTDSVSTMVVHDVEEIT
mutated  all conserved    863PGGRSDGDTDSISTMVVHDVEEI
Ptroglodytes  all identical  ENSPTRG00000008611  863PGGRSDGDTDSVSTMVVHDVEEI
Mmulatta  all identical  ENSMMUG00000002404  845DGDTDSVSTMVVHDVEEI
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000020827  876PGGR-DGDTDSVSTMVVHDVEEI
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000016332  838PILMLTYKGSLCVCSYNYSGYCHNNLIESNFSHRDADTDSVNTMVVHEDE--
Drerio  all identical  ENSDARG00000035360  822P---RDADSDSVNTMVVHEEEEG
Dmelanogaster  not conserved  FBgn0010909  1001TRTSSVLPDLLSQASPATPPRHDK
Celegans  all identical  ZC504.4  588PPTPTDGENTLVS-----DVRRN
Xtropicalis  all conserved  ENSXETG00000032292  806PSGTNGADT-SMFLLILPPPPPQ
protein features
start (aa)end (aa)featuredetails 
8661332REGIONMediates interaction with RAP2A.might get lost (downstream of altered splice site)
906906MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
916916MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
993993MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
10191306DOMAINCNH.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3999 / 3999
position (AA) of stopcodon in wt / mu AA sequence 1333 / 1333
position of stopcodon in wt / mu cDNA 4195 / 4195
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 197 / 197
chromosome 17
strand 1
last intron/exon boundary 4112
theoretical NMD boundary in CDS 3865
length of CDS 3999
coding sequence (CDS) position 2587
cDNA position
(for ins/del: last normal base / first normal base)
2783
gDNA position
(for ins/del: last normal base / first normal base)
60623
chromosomal position
(for ins/del: last normal base / first normal base)
4797305
original gDNA sequence snippet GCGATGGGGATACAGACAGCGTCAGCACCATGGTGGTCCAC
altered gDNA sequence snippet GCGATGGGGATACAGACAGCATCAGCACCATGGTGGTCCAC
original cDNA sequence snippet GCGATGGGGATACAGACAGCGTCAGCACCATGGTGGTCCAC
altered cDNA sequence snippet GCGATGGGGATACAGACAGCATCAGCACCATGGTGGTCCAC
wildtype AA sequence MGDPAPARSL DDIDLSALRD PAGIFELVEV VGNGTYGQVY KGRHVKTGQL AAIKVMDVTE
DEEEEIKQEI NMLKKYSHHR NIATYYGAFI KKSPPGNDDQ LWLVMEFCGA GSVTDLVKNT
KGNALKEDCI AYICREILRG LAHLHAHKVI HRDIKGQNVL LTENAEVKLV DFGVSAQLDR
TVGRRNTFIG TPYWMAPEVI ACDENPDATY DYRSDIWSLG ITAIEMAEGA PPLCDMHPMR
ALFLIPRNPP PRLKSKKWSK KFIDFIDTCL IKTYLSRPPT EQLLKFPFIR DQPTERQVRI
QLKDHIDRSR KKRGEKEETE YEYSGSEEED DSHGEEGEPS SIMNVPGEST LRREFLRLQQ
ENKSNSEALK QQQQLQQQQQ RDPEAHIKHL LHQRQRRIEE QKEERRRVEE QQRREREQRK
LQEKEQQRRL EDMQALRREE ERRQAEREQE YKRKQLEEQR QSERLQRQLQ QEHAYLKSLQ
QQQQQQQLQK QQQQQLLPGD RKPLYHYGRG MNPADKPAWA REVEERTRMN KQQNSPLAKS
KPGSTGPEPP IPQASPGPPG PLSQTPPMQR PVEPQEGPHK SLVAHRVPLK PYAAPVPRSQ
SLQDQPTRNL AAFPASHDPD PAIPAPTATP SARGAVIRQN SDPTSEGPGP SPNPPAWVRP
DNEAPPKVPQ RTSSIATALN TSGAGGSRPA QAVRARPRSN SAWQIYLQRR AERGTPKPPG
PPAQPPGPPN ASSNPDLRRS DPGWERSDSV LPASHGHLPQ AGSLERNRVG VSSKPDSSPV
LSPGNKAKPD DHRSRPGRPA DFVLLKERTL DEAPRPPKKA MDYSSSSEEV ESSEDDEEEG
EGGPAEGSRD TPGGRSDGDT DSVSTMVVHD VEEITGTQPP YGGGTMVVQR TPEEERNLLH
ADSNGYTNLP DVVQPSHSPT ENSKGQSPPS KDGSGDYQSR GLVKAPGKSS FTMFVDLGIY
QPGGSGDSIP ITALVGGEGT RLDQLQYDVR KGSVVNVNPT NTRAHSETPE IRKYKKRFNS
EILCAALWGV NLLVGTENGL MLLDRSGQGK VYGLIGRRRF QQMDVLEGLN LLITISGKRN
KLRVYYLSWL RNKILHNDPE VEKKQGWTTV GDMEGCGHYR VVKYERIKFL VIALKSSVEV
YAWAPKPYHK FMAFKSFADL PHRPLLVDLT VEEGQRLKVI YGSSAGFHAV DVDSGNSYDI
YIPVHIQSQI TPHAIIFLPN TDGMEMLLCY EDEGVYVNTY GRIIKDVVLQ WGEMPTSVAY
ICSNQIMGWG EKAIEIRSVE TGHLDGVFMH KRAQRLKFLC ERNDKVFFAS VRSGGSSQVY
FMTLNRNCIM NW*
mutated AA sequence MGDPAPARSL DDIDLSALRD PAGIFELVEV VGNGTYGQVY KGRHVKTGQL AAIKVMDVTE
DEEEEIKQEI NMLKKYSHHR NIATYYGAFI KKSPPGNDDQ LWLVMEFCGA GSVTDLVKNT
KGNALKEDCI AYICREILRG LAHLHAHKVI HRDIKGQNVL LTENAEVKLV DFGVSAQLDR
TVGRRNTFIG TPYWMAPEVI ACDENPDATY DYRSDIWSLG ITAIEMAEGA PPLCDMHPMR
ALFLIPRNPP PRLKSKKWSK KFIDFIDTCL IKTYLSRPPT EQLLKFPFIR DQPTERQVRI
QLKDHIDRSR KKRGEKEETE YEYSGSEEED DSHGEEGEPS SIMNVPGEST LRREFLRLQQ
ENKSNSEALK QQQQLQQQQQ RDPEAHIKHL LHQRQRRIEE QKEERRRVEE QQRREREQRK
LQEKEQQRRL EDMQALRREE ERRQAEREQE YKRKQLEEQR QSERLQRQLQ QEHAYLKSLQ
QQQQQQQLQK QQQQQLLPGD RKPLYHYGRG MNPADKPAWA REVEERTRMN KQQNSPLAKS
KPGSTGPEPP IPQASPGPPG PLSQTPPMQR PVEPQEGPHK SLVAHRVPLK PYAAPVPRSQ
SLQDQPTRNL AAFPASHDPD PAIPAPTATP SARGAVIRQN SDPTSEGPGP SPNPPAWVRP
DNEAPPKVPQ RTSSIATALN TSGAGGSRPA QAVRARPRSN SAWQIYLQRR AERGTPKPPG
PPAQPPGPPN ASSNPDLRRS DPGWERSDSV LPASHGHLPQ AGSLERNRVG VSSKPDSSPV
LSPGNKAKPD DHRSRPGRPA DFVLLKERTL DEAPRPPKKA MDYSSSSEEV ESSEDDEEEG
EGGPAEGSRD TPGGRSDGDT DSISTMVVHD VEEITGTQPP YGGGTMVVQR TPEEERNLLH
ADSNGYTNLP DVVQPSHSPT ENSKGQSPPS KDGSGDYQSR GLVKAPGKSS FTMFVDLGIY
QPGGSGDSIP ITALVGGEGT RLDQLQYDVR KGSVVNVNPT NTRAHSETPE IRKYKKRFNS
EILCAALWGV NLLVGTENGL MLLDRSGQGK VYGLIGRRRF QQMDVLEGLN LLITISGKRN
KLRVYYLSWL RNKILHNDPE VEKKQGWTTV GDMEGCGHYR VVKYERIKFL VIALKSSVEV
YAWAPKPYHK FMAFKSFADL PHRPLLVDLT VEEGQRLKVI YGSSAGFHAV DVDSGNSYDI
YIPVHIQSQI TPHAIIFLPN TDGMEMLLCY EDEGVYVNTY GRIIKDVVLQ WGEMPTSVAY
ICSNQIMGWG EKAIEIRSVE TGHLDGVFMH KRAQRLKFLC ERNDKVFFAS VRSGGSSQVY
FMTLNRNCIM NW*
speed 1.20 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: 0.00475641343750024 (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) chr17:4797305G>AN/A show variant in all transcripts   IGV
HGNC symbol MINK1
Ensembl transcript ID ENST00000453408
Genbank transcript ID NM_001024937
UniProt peptide Q8N4C8
alteration type single base exchange
alteration region CDS
DNA changes c.2527G>A
cDNA.2527G>A
g.60623G>A
AA changes V843I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
843
frameshift no
known variant Reference ID: rs2302319
databasehomozygous (A/A)heterozygousallele carriers
1000G200645845
ExAC20471127513322
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.0150.498
1.6390.964
(flanking)2.6591
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased60620wt: 0.38 / mu: 0.46wt: CAGACAGCGTCAGCA
mu: CAGACAGCATCAGCA
 GACA|gcgt
Donor marginally increased60616wt: 0.8408 / mu: 0.8410 (marginal change - not scored)wt: GATACAGACAGCGTC
mu: GATACAGACAGCATC
 TACA|gaca
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      843PGGRSDGDTDSVSTMVVHDVEEIT
mutated  all conserved    843DSISTMVVHDVEEI
Ptroglodytes  all identical  ENSPTRG00000008611  863PGGRSDGDTDSVSTMVVHDVEEI
Mmulatta  all identical  ENSMMUG00000002404  845DGDTDSVSTMVVHDVEEI
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000020827  876PGGR-DGDTDSVSTMVVHDVEEI
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000016332  843YKGSLCVCSYNYSGYCHNNLIESNFSHRDADTDSVNTMVVHEDE--
Drerio  all identical  ENSDARG00000035360  822P---RDADSDSVNTMVVHEEEEG
Dmelanogaster  not conserved  FBgn0010909  989PGTRTSSVLPDLLSQASPATPPRHDK
Celegans  all identical  ZC504.4  588PPTPTDGENTLVS-----DVRRN
Xtropicalis  all conserved  ENSXETG00000032292  802DT-SMFLLILPPPPPQ
protein features
start (aa)end (aa)featuredetails 
8661332REGIONMediates interaction with RAP2A.might get lost (downstream of altered splice site)
906906MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
916916MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
993993MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
10191306DOMAINCNH.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3939 / 3939
position (AA) of stopcodon in wt / mu AA sequence 1313 / 1313
position of stopcodon in wt / mu cDNA 3939 / 3939
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 17
strand 1
last intron/exon boundary 3856
theoretical NMD boundary in CDS 3805
length of CDS 3939
coding sequence (CDS) position 2527
cDNA position
(for ins/del: last normal base / first normal base)
2527
gDNA position
(for ins/del: last normal base / first normal base)
60623
chromosomal position
(for ins/del: last normal base / first normal base)
4797305
original gDNA sequence snippet GCGATGGGGATACAGACAGCGTCAGCACCATGGTGGTCCAC
altered gDNA sequence snippet GCGATGGGGATACAGACAGCATCAGCACCATGGTGGTCCAC
original cDNA sequence snippet GCGATGGGGATACAGACAGCGTCAGCACCATGGTGGTCCAC
altered cDNA sequence snippet GCGATGGGGATACAGACAGCATCAGCACCATGGTGGTCCAC
wildtype AA sequence MGDPAPARSL DDIDLSALRD PAGIFELVEV VGNGTYGQVY KGRHVKTGQL AAIKVMDVTE
DEEEEIKQEI NMLKKYSHHR NIATYYGAFI KKSPPGNDDQ LWLVMEFCGA GSVTDLVKNT
KGNALKEDCI AYICREILRG LAHLHAHKVI HRDIKGQNVL LTENAEVKLV DFGVSAQLDR
TVGRRNTFIG TPYWMAPEVI ACDENPDATY DYRSDIWSLG ITAIEMAEGA PPLCDMHPMR
ALFLIPRNPP PRLKSKKWSK KFIDFIDTCL IKTYLSRPPT EQLLKFPFIR DQPTERQVRI
QLKDHIDRSR KKRGEKEETE YEYSGSEEED DSHGEEGEPS SIMNVPGEST LRREFLRLQQ
ENKSNSEALK QQQQLQQQQQ RDPEAHIKHL LHQRQRRIEE QKEERRRVEE QQRREREQRK
LQEKEQQRRL EDMQALRREE ERRQAEREQE YKRKQLEEQR QSERLQRQLQ QEHAYLKSLQ
QQQQQQQLQK QQQQQLLPGD RKPLYHYGRG MNPADKPAWA REVEERTRMN KQQNSPLAKS
KPGSTGPEPP IPQASPGPPG PLSQTPPMQR PVEPQEGPHK SLQDQPTRNL AAFPASHDPD
PAIPAPTATP SARGAVIRQN SDPTSEGPGP SPNPPAWVRP DNEAPPKVPQ RTSSIATALN
TSGAGGSRPA QAVRARPRSN SAWQIYLQRR AERGTPKPPG PPAQPPGPPN ASSNPDLRRS
DPGWERSDSV LPASHGHLPQ AGSLERNRVG VSSKPDSSPV LSPGNKAKPD DHRSRPGRPA
DFVLLKERTL DEAPRPPKKA MDYSSSSEEV ESSEDDEEEG EGGPAEGSRD TPGGRSDGDT
DSVSTMVVHD VEEITGTQPP YGGGTMVVQR TPEEERNLLH ADSNGYTNLP DVVQPSHSPT
ENSKGQSPPS KDGSGDYQSR GLVKAPGKSS FTMFVDLGIY QPGGSGDSIP ITALVGGEGT
RLDQLQYDVR KGSVVNVNPT NTRAHSETPE IRKYKKRFNS EILCAALWGV NLLVGTENGL
MLLDRSGQGK VYGLIGRRRF QQMDVLEGLN LLITISGKRN KLRVYYLSWL RNKILHNDPE
VEKKQGWTTV GDMEGCGHYR VVKYERIKFL VIALKSSVEV YAWAPKPYHK FMAFKSFADL
PHRPLLVDLT VEEGQRLKVI YGSSAGFHAV DVDSGNSYDI YIPVHIQSQI TPHAIIFLPN
TDGMEMLLCY EDEGVYVNTY GRIIKDVVLQ WGEMPTSVAY ICSNQIMGWG EKAIEIRSVE
TGHLDGVFMH KRAQRLKFLC ERNDKVFFAS VRSGGSSQVY FMTLNRNCIM NW*
mutated AA sequence MGDPAPARSL DDIDLSALRD PAGIFELVEV VGNGTYGQVY KGRHVKTGQL AAIKVMDVTE
DEEEEIKQEI NMLKKYSHHR NIATYYGAFI KKSPPGNDDQ LWLVMEFCGA GSVTDLVKNT
KGNALKEDCI AYICREILRG LAHLHAHKVI HRDIKGQNVL LTENAEVKLV DFGVSAQLDR
TVGRRNTFIG TPYWMAPEVI ACDENPDATY DYRSDIWSLG ITAIEMAEGA PPLCDMHPMR
ALFLIPRNPP PRLKSKKWSK KFIDFIDTCL IKTYLSRPPT EQLLKFPFIR DQPTERQVRI
QLKDHIDRSR KKRGEKEETE YEYSGSEEED DSHGEEGEPS SIMNVPGEST LRREFLRLQQ
ENKSNSEALK QQQQLQQQQQ RDPEAHIKHL LHQRQRRIEE QKEERRRVEE QQRREREQRK
LQEKEQQRRL EDMQALRREE ERRQAEREQE YKRKQLEEQR QSERLQRQLQ QEHAYLKSLQ
QQQQQQQLQK QQQQQLLPGD RKPLYHYGRG MNPADKPAWA REVEERTRMN KQQNSPLAKS
KPGSTGPEPP IPQASPGPPG PLSQTPPMQR PVEPQEGPHK SLQDQPTRNL AAFPASHDPD
PAIPAPTATP SARGAVIRQN SDPTSEGPGP SPNPPAWVRP DNEAPPKVPQ RTSSIATALN
TSGAGGSRPA QAVRARPRSN SAWQIYLQRR AERGTPKPPG PPAQPPGPPN ASSNPDLRRS
DPGWERSDSV LPASHGHLPQ AGSLERNRVG VSSKPDSSPV LSPGNKAKPD DHRSRPGRPA
DFVLLKERTL DEAPRPPKKA MDYSSSSEEV ESSEDDEEEG EGGPAEGSRD TPGGRSDGDT
DSISTMVVHD VEEITGTQPP YGGGTMVVQR TPEEERNLLH ADSNGYTNLP DVVQPSHSPT
ENSKGQSPPS KDGSGDYQSR GLVKAPGKSS FTMFVDLGIY QPGGSGDSIP ITALVGGEGT
RLDQLQYDVR KGSVVNVNPT NTRAHSETPE IRKYKKRFNS EILCAALWGV NLLVGTENGL
MLLDRSGQGK VYGLIGRRRF QQMDVLEGLN LLITISGKRN KLRVYYLSWL RNKILHNDPE
VEKKQGWTTV GDMEGCGHYR VVKYERIKFL VIALKSSVEV YAWAPKPYHK FMAFKSFADL
PHRPLLVDLT VEEGQRLKVI YGSSAGFHAV DVDSGNSYDI YIPVHIQSQI TPHAIIFLPN
TDGMEMLLCY EDEGVYVNTY GRIIKDVVLQ WGEMPTSVAY ICSNQIMGWG EKAIEIRSVE
TGHLDGVFMH KRAQRLKFLC ERNDKVFFAS VRSGGSSQVY FMTLNRNCIM NW*
speed 1.08 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
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Problems