MutationTaster - study a chromosomal position

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: ENST00000325942
Querying Taster for transcript #2: ENST00000264895
Querying Taster for transcript #3: ENST00000264899
MT speed 0 s - this script 4.361073 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
FRAS1	polymorphism_automatic	5.27022869789562e-13	simple_aae				D687G	single base exchange	rs345513		show file
FRAS1	polymorphism_automatic	5.27022869789562e-13	simple_aae				D687G	single base exchange	rs345513		show file
FRAS1	polymorphism_automatic	1.05120356863608e-11	simple_aae				D687G	single base exchange	rs345513		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999473 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:79240063A>GN/A show variant in all transcripts IGV

HGNC symbol

FRAS1

Ensembl transcript ID

ENST00000325942

Genbank transcript ID

NM_001166133

UniProt peptide

N/A

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2060A>G
cDNA.2500A>G
g.261340A>G

AA changes

D687G Score: 94 explain score(s)

position(s) of altered AA
if AA alteration in CDS

687

frameshift

known variant

Reference ID: rs345513

database	homozygous (G/G)	heterozygous	allele carriers
1000G	467	1241	1708
ExAC	10166	12435	22601

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.676	0.007
	0.305	0.002
(flanking)	-0.018	0.001

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

687

mutated

not conserved

687

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000002564

687

Fcatus

no alignment

ENSFCAG00000011279

n/a

Mmusculus

not conserved

ENSMUSG00000034687

686

Ggallus

all conserved

ENSGALG00000010316

690

Trubripes

not conserved

ENSTRUG00000002517

664

Drerio

all conserved

ENSDARG00000054619

666

Dmelanogaster

no homologue

Celegans

no alignment

C48E7.6

n/a

Xtropicalis

not conserved

ENSXETG00000000377

659

protein features

N/A

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5931 / 5931

position (AA) of stopcodon in wt / mu AA sequence

1977 / 1977

position of stopcodon in wt / mu cDNA

6371 / 6371

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

441 / 441

chromosome

strand

last intron/exon boundary

6106

theoretical NMD boundary in CDS

5615

length of CDS

5931

coding sequence (CDS) position

2060

cDNA position
(for ins/del: last normal base / first normal base)

2500

gDNA position
(for ins/del: last normal base / first normal base)

261340

chromosomal position
(for ins/del: last normal base / first normal base)

79240063

original gDNA sequence snippet

GCAAGTGGAGCAGCTGTCTGACGTGGGCATCCCCTCTGGCG

altered gDNA sequence snippet

GCAAGTGGAGCAGCTGTCTGGCGTGGGCATCCCCTCTGGCG

original cDNA sequence snippet

GCAAGTGGAGCAGCTGTCTGACGTGGGCATCCCCTCTGGCG

altered cDNA sequence snippet

GCAAGTGGAGCAGCTGTCTGGCGTGGGCATCCCCTCTGGCG

wildtype AA sequence

mutated AA sequence

speed

0.28 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

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999473 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:79240063A>GN/A show variant in all transcripts IGV

HGNC symbol

FRAS1

Ensembl transcript ID

ENST00000264895

Genbank transcript ID

NM_025074

UniProt peptide

N/A

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2060A>G
cDNA.2500A>G
g.261340A>G

AA changes

D687G Score: 94 explain score(s)

position(s) of altered AA
if AA alteration in CDS

687

frameshift

known variant

Reference ID: rs345513

database	homozygous (G/G)	heterozygous	allele carriers
1000G	467	1241	1708
ExAC	10166	12435	22601

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.676	0.007
	0.305	0.002
(flanking)	-0.018	0.001

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

687

mutated

not conserved

687

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000002564

687

Fcatus

no alignment

ENSFCAG00000011279

n/a

Mmusculus

not conserved

ENSMUSG00000034687

686

Ggallus

all conserved

ENSGALG00000010316

690

Trubripes

not conserved

ENSTRUG00000002517

664

Drerio

all conserved

ENSDARG00000054619

666

Dmelanogaster

no homologue

Celegans

no alignment

C48E7.6

n/a

Xtropicalis

not conserved

ENSXETG00000000377

659

protein features

N/A

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

12039 / 12039

position (AA) of stopcodon in wt / mu AA sequence

4013 / 4013

position of stopcodon in wt / mu cDNA

12479 / 12479

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

441 / 441

chromosome

strand

last intron/exon boundary

11886

theoretical NMD boundary in CDS

11395

length of CDS

12039

coding sequence (CDS) position

2060

cDNA position
(for ins/del: last normal base / first normal base)

2500

gDNA position
(for ins/del: last normal base / first normal base)

261340

chromosomal position
(for ins/del: last normal base / first normal base)

79240063

original gDNA sequence snippet

GCAAGTGGAGCAGCTGTCTGACGTGGGCATCCCCTCTGGCG

altered gDNA sequence snippet

GCAAGTGGAGCAGCTGTCTGGCGTGGGCATCCCCTCTGGCG

original cDNA sequence snippet

GCAAGTGGAGCAGCTGTCTGACGTGGGCATCCCCTCTGGCG

altered cDNA sequence snippet

GCAAGTGGAGCAGCTGTCTGGCGTGGGCATCCCCTCTGGCG

wildtype AA sequence

MGVLKVWLGL ALALAEFAVL PHHSEGACVY QDSLLADATI WKPDSCQSCR CHGDIVICKP
AVCRNPQCAF EKGEVLQIAA NQCCPECVLR TPGSCHHEKK IHEHGTEWAS SPCSVCSCNH
GEVRCTPQPC PPLSCGHQEL AFIPEGSCCP VCVGLGKPCS YEGHVFQDGE DWRLSRCAKC
LCRNGVAQCF TAQCQPLFCN QDETVVRVPG KCCPQCSARS CSAAGQVYEH GEQWSENACT
TCICDRGEVR CHKQACLPLR CGKGQSRARR HGQCCEECVS PAGSCSYDGV VRYQDEMWKG
SACEFCMCDH GQVTCQTGEC AKVECARDEE LIHLDGKCCP ECISRNGYCV YEETGEFMSS
NASEVKRIPE GEKWEDGPCK VCECRGAQVT CYEPSCPPCP VGTLALEVKG QCCPDCTSVH
CHPDCLTCSQ SPDHCDLCQD PTKLLQNGWC VHSCGLGFYQ AGSLCLACQP QCSTCTSGLE
CSSCQPPLLM RHGQCVPTCG DGFYQDRHSC AVCHESCAGC WGPTEKHCLA CRDPLHVLRD
GGCESSCGKG FYNRQGTCSA CDQSCDSCGP SSPRCLTCTE KTVLHDGKCM SECPGGYYAD
ATGRCKVCHN SCASCSGPTP SHCTACSPPK ALRQGHCLPR CGEGFYSDHG VCKACHSSCL
ACMGPAPSHC TGCKKPEEGL QVEQLSDVGI PSGECLAQCR AHFYLESTGI CEACHQSCFR
CAGKSPHNCT DCGPSHVLLD GQCLSQCPDG YFHQEGSCTE CHPTCRQCHG PLESDCISCY
PHISLTNGNC RTSCREEQFL NLVGYCADCH HLCQHCAADL HNTGSICLRC QNAHYLLLGD
HCVPDCPSGY YAERGACKKC HSSCRTCQGR GPFSCSSCDT NLVLSHTGTC STTCFPGHYL
DDNHVCQPCN THCGSCDSQA SCTSCRDPNK VLLFGECQYE SCAPQYYLDF STNTCKECDW
SCSACSGPLK TDCLQCMDGY VLQDGACVEQ CLSSFYQDSG LCKNCDSYCL QCQGPHECTR
CKGPFLLLEA QCVQECGKGY FADHAKHKCT ACPQGCLQCS HRDRCHLCDH GFFLKSGLCV
YNCVPGFSVH TSNETCSGKI HTPSLHVNGS LILPIGSIKP LDFSLLNVQD QEGRVEDLLF
HVVSTPTNGQ LVLSRNGKEV QLDKAGRFSW KDVNEKKVRF VHSKEKLRKG YLFLKISDQQ
FFSEPQLINI QAFSTQAPYV LRNEVLHISR GERATITTQM LDIRDDDNPQ DVVIEIIDPP
LHGQLLQTLQ SPATPIYQFQ LDELSRGLLH YAHDGSDSTS DVAVLQANDG HSFHNILFQV
KTVPQNDRGL QLVANSMVWV PEGGMLQITN RILQAEAPGA SAEEIIYKIT QDYPQFGEVV
LLVNMPADSP ADEGQHLPDG RTATPTSTFT QQDINEGIVW YRHSGAPAQS DSFRFEVSSA
SNAQTRLESH MFNIAILPQT PEAPKVSLEA SLHMTAREDG LTVIQPHSLS FINSEKPSGK
IVYNITLPLH PNQGIIEHRD HPHSPIRYFT QEDINQGKVM YRPPPAAPHL QELMAFSFAG
LPESVKFHFT VSDGEHTSPE MVLTIHLLPS DQQLPVFQVT APRLAVSPGG STSVGLQVVV
RDAETAPKEL FFELRRPPQH GVLLKHTAEF RRPMATGDTF TYEDVEKNAL QYIHDGSSTR
EDSMEISVTD GLTVTMLEVR VEVSLSEDRG PRLAAGSSLS ITVASKSTAI ITRSHLAYVD
DSSPDPEIWI QLNYLPSYGT LLRISGSEVE ELSEVSNFTM EDINNKKIRY SAVFETDGHL
VTDSFYFSVS DMDHNHLDNQ IFTIMITPAE NPPPVIAFAD LITVDEGGRA PLSFHHFFAT
DDDDNLQRDA IIKLSALPKY GCIENTGTGD RFGPETASDL EASFPIQDVL ENYIYYFQSV
HESIEPTHDI FSFYVSDGTS RSEIHSINIT IERKNDEPPR MTLQPLRVQL SSGVVISNSS
LSLQDLDTPD NELIFVLTKK PDHGHVLWRQ TASEPLENGR VLVQGSTFTY QDILAGLVGY
VPSVPGMVVD EFQFSLTDGL HVDTGRMKIY TELPASDTPH LAINQGLQLS AGSVARITEQ
HLKVTDIDSD DHQVMYIMKE DPGAGRLQMM KHGNLEQISI KGPIRSFTQA DISQGHVEYS
HGTGEPGGSF AFKFDVVDGE GNRLIDKSFS ISILEDKSPP VITTNKGLVL DENSVKKITT
LQLSATDQDS GPTELIYRIT RQPQLGHLEH AASPGIQISS FTQADLTSRN VQYVHSSEAE
KHSDAFSFTL SDGVSEVTQT FHITLHPVDD SLPVVQNLGM RVQEGMRKTI TEFELKAVDA
DTEAESVTFT IVQPPRHGTI ERTSNGQHFH LTSTFTMKDI YQNRVSYSHD GSNSLKDRFT
FTVSDGTNPF FIIEEGGKEI MTAAPQPFRV DILPVDDGTP RIVTNLGLQW LEYMDGKATN
LITKKELLTM DPDTEDAQLV YEITTGPKHG FVENKLQPGR AAATFTQEDV NLGLIRYVLH
KEKIREMMDS FQFLVKDSKP NVVSDNVFHI QWSLISFKYT SYNVSEKAGS VSVTVQRTGN
LNQYAIVLCR TEQGTASSSS RVSSQPGQQD YVEYAGQVQF DEREDTKSCT IVINDDDVFE
NVESFTVELS MPAYALLGEF TQAKVIINDT EDEPTLEFDK KIYWVNESAG FLFAPIERKG
DASSIVSAIC YTVPKSAMGS SLYALESGSD FKSRGMSAAS RVIFGPGVTM STCDVMLIDD
SEYEEEEEFE IALADASDNA RIGRVATAKV LISGPNDAST VSLGNTAFTV SEDAGTVKIP
VIRHGTDLST FASVWCATRP SDPASATPGV DYVPSSRKVE FGPGVIEQYC TLTILDDTQY
PVIEGLETFV VFLSSAQGAE LTKPFQAVIA INDTFQDVPS MQFAKDLLLV KEKEGVLHVP
ITRSGDLSYE SSVRCYTQSH SAQVMEDFEE RQNADSSRIT FLKGDKVKNC TVYIHDDSMF
EPEEQFRVYL GLPLGNHWSG ARIGKNNMAT ITISNDEDAP TIEFEEAAYQ VREPAGPDAI
AILNIKVIRR GDQNRTSKVR CSTRDGSAQS GVDYYPKSRV LKFSPGVDHI FFKVEILSNE
DREWHESFSL VLGPDDPVEA VLGDVTTATV TILDQEAAGS LILPAPPIVV TLADYDHVEE
VTKEGVKKSP SPGYPLVCVT PCDPHFPRYA VMKERCSEAG INQTSVQFSW EVAAPTDGNG
ARSPFETITD NTPFTSVNHM VLDSIYFSRR FHVRCVAKAV DKVGHVGTPL RSNIVTIGTD
SAICHTPVVA GTSRGFQAQS FIATLKYLDV KHKEHPNRIH ISVQIPHQDG MLPLISTMPL
HNLHFLLSES IYRHQHVCSN LVTTYDLRGI SEAGFLDDVV YDSTALGPGY DRPFQFDPSV
REPKTIQLYK HLNLKSCVWT FDAYYDMTEL IDVCGGSVTA DFQVRDSAQS FLTVHVPLYV
SYIYVTAPRG WASLEHHTEM EFSFFYDTVL WRTGIQTDSV LSARLQIIRI YIREDGRLVI
EFKTHAKFRG QFVMEHHTLP EVKSFVLTPD HLGGIEFDLQ LLWSAQTFDS PHQLWRATSS
YNRKDYSGEY TIYLIPCTVQ PTQPWVDPGE KPLACTAHAP ERFLIPIAFQ QTNRPVPVVY
SLNTEFQLCN NEKVFLMDPN TSDMSLAEMD YKGAFSKGQI LYGRVLWNPE QNLNSAYKLQ
LEKVYLCTGK DGYVPFFDPT GTIYNEGPQY GCIQPNKHLK HRFLLLDRNQ PEVTDKYFHD
VPFEAHFASE LPDFHVVSNM PGVDGFTLKV DALYKVEAGH QWYLQVIYII GPDTISGPRV
QRSLTAPLRR NRRDLVEPDG QLILDDSLIY DNEGDQVKNG TNMKSLNLEM QELAVAASLS
QTGASIGSAL AAIMLLLLVF LVACFINRKC QKQRKKKPAE DILEEYPLNT KVEVPKRHPD
RVEKNVNRHY CTVRNVNILS EPEAAYTFKG AKVKRLNLEV RVHNNLQDGT EV*

mutated AA sequence

MGVLKVWLGL ALALAEFAVL PHHSEGACVY QDSLLADATI WKPDSCQSCR CHGDIVICKP
AVCRNPQCAF EKGEVLQIAA NQCCPECVLR TPGSCHHEKK IHEHGTEWAS SPCSVCSCNH
GEVRCTPQPC PPLSCGHQEL AFIPEGSCCP VCVGLGKPCS YEGHVFQDGE DWRLSRCAKC
LCRNGVAQCF TAQCQPLFCN QDETVVRVPG KCCPQCSARS CSAAGQVYEH GEQWSENACT
TCICDRGEVR CHKQACLPLR CGKGQSRARR HGQCCEECVS PAGSCSYDGV VRYQDEMWKG
SACEFCMCDH GQVTCQTGEC AKVECARDEE LIHLDGKCCP ECISRNGYCV YEETGEFMSS
NASEVKRIPE GEKWEDGPCK VCECRGAQVT CYEPSCPPCP VGTLALEVKG QCCPDCTSVH
CHPDCLTCSQ SPDHCDLCQD PTKLLQNGWC VHSCGLGFYQ AGSLCLACQP QCSTCTSGLE
CSSCQPPLLM RHGQCVPTCG DGFYQDRHSC AVCHESCAGC WGPTEKHCLA CRDPLHVLRD
GGCESSCGKG FYNRQGTCSA CDQSCDSCGP SSPRCLTCTE KTVLHDGKCM SECPGGYYAD
ATGRCKVCHN SCASCSGPTP SHCTACSPPK ALRQGHCLPR CGEGFYSDHG VCKACHSSCL
ACMGPAPSHC TGCKKPEEGL QVEQLSGVGI PSGECLAQCR AHFYLESTGI CEACHQSCFR
CAGKSPHNCT DCGPSHVLLD GQCLSQCPDG YFHQEGSCTE CHPTCRQCHG PLESDCISCY
PHISLTNGNC RTSCREEQFL NLVGYCADCH HLCQHCAADL HNTGSICLRC QNAHYLLLGD
HCVPDCPSGY YAERGACKKC HSSCRTCQGR GPFSCSSCDT NLVLSHTGTC STTCFPGHYL
DDNHVCQPCN THCGSCDSQA SCTSCRDPNK VLLFGECQYE SCAPQYYLDF STNTCKECDW
SCSACSGPLK TDCLQCMDGY VLQDGACVEQ CLSSFYQDSG LCKNCDSYCL QCQGPHECTR
CKGPFLLLEA QCVQECGKGY FADHAKHKCT ACPQGCLQCS HRDRCHLCDH GFFLKSGLCV
YNCVPGFSVH TSNETCSGKI HTPSLHVNGS LILPIGSIKP LDFSLLNVQD QEGRVEDLLF
HVVSTPTNGQ LVLSRNGKEV QLDKAGRFSW KDVNEKKVRF VHSKEKLRKG YLFLKISDQQ
FFSEPQLINI QAFSTQAPYV LRNEVLHISR GERATITTQM LDIRDDDNPQ DVVIEIIDPP
LHGQLLQTLQ SPATPIYQFQ LDELSRGLLH YAHDGSDSTS DVAVLQANDG HSFHNILFQV
KTVPQNDRGL QLVANSMVWV PEGGMLQITN RILQAEAPGA SAEEIIYKIT QDYPQFGEVV
LLVNMPADSP ADEGQHLPDG RTATPTSTFT QQDINEGIVW YRHSGAPAQS DSFRFEVSSA
SNAQTRLESH MFNIAILPQT PEAPKVSLEA SLHMTAREDG LTVIQPHSLS FINSEKPSGK
IVYNITLPLH PNQGIIEHRD HPHSPIRYFT QEDINQGKVM YRPPPAAPHL QELMAFSFAG
LPESVKFHFT VSDGEHTSPE MVLTIHLLPS DQQLPVFQVT APRLAVSPGG STSVGLQVVV
RDAETAPKEL FFELRRPPQH GVLLKHTAEF RRPMATGDTF TYEDVEKNAL QYIHDGSSTR
EDSMEISVTD GLTVTMLEVR VEVSLSEDRG PRLAAGSSLS ITVASKSTAI ITRSHLAYVD
DSSPDPEIWI QLNYLPSYGT LLRISGSEVE ELSEVSNFTM EDINNKKIRY SAVFETDGHL
VTDSFYFSVS DMDHNHLDNQ IFTIMITPAE NPPPVIAFAD LITVDEGGRA PLSFHHFFAT
DDDDNLQRDA IIKLSALPKY GCIENTGTGD RFGPETASDL EASFPIQDVL ENYIYYFQSV
HESIEPTHDI FSFYVSDGTS RSEIHSINIT IERKNDEPPR MTLQPLRVQL SSGVVISNSS
LSLQDLDTPD NELIFVLTKK PDHGHVLWRQ TASEPLENGR VLVQGSTFTY QDILAGLVGY
VPSVPGMVVD EFQFSLTDGL HVDTGRMKIY TELPASDTPH LAINQGLQLS AGSVARITEQ
HLKVTDIDSD DHQVMYIMKE DPGAGRLQMM KHGNLEQISI KGPIRSFTQA DISQGHVEYS
HGTGEPGGSF AFKFDVVDGE GNRLIDKSFS ISILEDKSPP VITTNKGLVL DENSVKKITT
LQLSATDQDS GPTELIYRIT RQPQLGHLEH AASPGIQISS FTQADLTSRN VQYVHSSEAE
KHSDAFSFTL SDGVSEVTQT FHITLHPVDD SLPVVQNLGM RVQEGMRKTI TEFELKAVDA
DTEAESVTFT IVQPPRHGTI ERTSNGQHFH LTSTFTMKDI YQNRVSYSHD GSNSLKDRFT
FTVSDGTNPF FIIEEGGKEI MTAAPQPFRV DILPVDDGTP RIVTNLGLQW LEYMDGKATN
LITKKELLTM DPDTEDAQLV YEITTGPKHG FVENKLQPGR AAATFTQEDV NLGLIRYVLH
KEKIREMMDS FQFLVKDSKP NVVSDNVFHI QWSLISFKYT SYNVSEKAGS VSVTVQRTGN
LNQYAIVLCR TEQGTASSSS RVSSQPGQQD YVEYAGQVQF DEREDTKSCT IVINDDDVFE
NVESFTVELS MPAYALLGEF TQAKVIINDT EDEPTLEFDK KIYWVNESAG FLFAPIERKG
DASSIVSAIC YTVPKSAMGS SLYALESGSD FKSRGMSAAS RVIFGPGVTM STCDVMLIDD
SEYEEEEEFE IALADASDNA RIGRVATAKV LISGPNDAST VSLGNTAFTV SEDAGTVKIP
VIRHGTDLST FASVWCATRP SDPASATPGV DYVPSSRKVE FGPGVIEQYC TLTILDDTQY
PVIEGLETFV VFLSSAQGAE LTKPFQAVIA INDTFQDVPS MQFAKDLLLV KEKEGVLHVP
ITRSGDLSYE SSVRCYTQSH SAQVMEDFEE RQNADSSRIT FLKGDKVKNC TVYIHDDSMF
EPEEQFRVYL GLPLGNHWSG ARIGKNNMAT ITISNDEDAP TIEFEEAAYQ VREPAGPDAI
AILNIKVIRR GDQNRTSKVR CSTRDGSAQS GVDYYPKSRV LKFSPGVDHI FFKVEILSNE
DREWHESFSL VLGPDDPVEA VLGDVTTATV TILDQEAAGS LILPAPPIVV TLADYDHVEE
VTKEGVKKSP SPGYPLVCVT PCDPHFPRYA VMKERCSEAG INQTSVQFSW EVAAPTDGNG
ARSPFETITD NTPFTSVNHM VLDSIYFSRR FHVRCVAKAV DKVGHVGTPL RSNIVTIGTD
SAICHTPVVA GTSRGFQAQS FIATLKYLDV KHKEHPNRIH ISVQIPHQDG MLPLISTMPL
HNLHFLLSES IYRHQHVCSN LVTTYDLRGI SEAGFLDDVV YDSTALGPGY DRPFQFDPSV
REPKTIQLYK HLNLKSCVWT FDAYYDMTEL IDVCGGSVTA DFQVRDSAQS FLTVHVPLYV
SYIYVTAPRG WASLEHHTEM EFSFFYDTVL WRTGIQTDSV LSARLQIIRI YIREDGRLVI
EFKTHAKFRG QFVMEHHTLP EVKSFVLTPD HLGGIEFDLQ LLWSAQTFDS PHQLWRATSS
YNRKDYSGEY TIYLIPCTVQ PTQPWVDPGE KPLACTAHAP ERFLIPIAFQ QTNRPVPVVY
SLNTEFQLCN NEKVFLMDPN TSDMSLAEMD YKGAFSKGQI LYGRVLWNPE QNLNSAYKLQ
LEKVYLCTGK DGYVPFFDPT GTIYNEGPQY GCIQPNKHLK HRFLLLDRNQ PEVTDKYFHD
VPFEAHFASE LPDFHVVSNM PGVDGFTLKV DALYKVEAGH QWYLQVIYII GPDTISGPRV
QRSLTAPLRR NRRDLVEPDG QLILDDSLIY DNEGDQVKNG TNMKSLNLEM QELAVAASLS
QTGASIGSAL AAIMLLLLVF LVACFINRKC QKQRKKKPAE DILEEYPLNT KVEVPKRHPD
RVEKNVNRHY CTVRNVNILS EPEAAYTFKG AKVKRLNLEV RVHNNLQDGT EV*

speed

1.20 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999989488 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:79240063A>GN/A show variant in all transcripts IGV

HGNC symbol

FRAS1

Ensembl transcript ID

ENST00000264899

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2060A>G
cDNA.2500A>G
g.261340A>G

AA changes

D687G Score: 94 explain score(s)

position(s) of altered AA
if AA alteration in CDS

687

frameshift

known variant

Reference ID: rs345513

database	homozygous (G/G)	heterozygous	allele carriers
1000G	467	1241	1708
ExAC	10166	12435	22601

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.676	0.007
	0.305	0.002
(flanking)	-0.018	0.001

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

687

mutated

not conserved

687

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000002564

687

Fcatus

no alignment

ENSFCAG00000011279

n/a

Mmusculus

not conserved

ENSMUSG00000034687

686

Ggallus

all conserved

ENSGALG00000010316

690

Trubripes

not conserved

ENSTRUG00000002517

664

Drerio

all conserved

ENSDARG00000054619

666

Dmelanogaster

no homologue

Celegans

all identical

C48E7.6

822

Xtropicalis

not conserved

ENSXETG00000000377

659

protein features

N/A

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2214 / 2214

position (AA) of stopcodon in wt / mu AA sequence

738 / 738

position of stopcodon in wt / mu cDNA

2654 / 2654

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

441 / 441

chromosome

strand

last intron/exon boundary

2578

theoretical NMD boundary in CDS

2087

length of CDS

2214

coding sequence (CDS) position

2060

cDNA position
(for ins/del: last normal base / first normal base)

2500

gDNA position
(for ins/del: last normal base / first normal base)

261340

chromosomal position
(for ins/del: last normal base / first normal base)

79240063

original gDNA sequence snippet

GCAAGTGGAGCAGCTGTCTGACGTGGGCATCCCCTCTGGCG

altered gDNA sequence snippet

GCAAGTGGAGCAGCTGTCTGGCGTGGGCATCCCCTCTGGCG

original cDNA sequence snippet

GCAAGTGGAGCAGCTGTCTGACGTGGGCATCCCCTCTGGCG

altered cDNA sequence snippet

GCAAGTGGAGCAGCTGTCTGGCGTGGGCATCCCCTCTGGCG

wildtype AA sequence

mutated AA sequence

speed

1.19 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems