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 7 transcript(s)...
Querying Taster for transcript #1: ENST00000395527
Querying Taster for transcript #2: ENST00000395529
Querying Taster for transcript #3: ENST00000261503
Querying Taster for transcript #4: ENST00000395530
Querying Taster for transcript #5: ENST00000395522
Querying Taster for transcript #6: ENST00000395525
Querying Taster for transcript #7: ENST00000536879
MT speed 0 s - this script 6.647015 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
SPECC1	polymorphism_automatic	3.19744231092045e-14	simple_aae				M293L	single base exchange	rs2703806		show file
SPECC1	polymorphism_automatic	3.19744231092045e-14	simple_aae				M293L	single base exchange	rs2703806		show file
SPECC1	polymorphism_automatic	3.19744231092045e-14	simple_aae				M293L	single base exchange	rs2703806		show file
SPECC1	polymorphism_automatic	1.30007116183606e-13	simple_aae				M212L	single base exchange	rs2703806		show file
SPECC1	polymorphism_automatic	1.30007116183606e-13	simple_aae				M212L	single base exchange	rs2703806		show file
SPECC1	polymorphism_automatic	1.30007116183606e-13	simple_aae				M212L	single base exchange	rs2703806		show file
SPECC1	polymorphism_automatic	8.28149535947453e-07	without_aae					single base exchange	rs2703806		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999968 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:20108239A>TN/A show variant in all transcripts IGV

HGNC symbol

SPECC1

Ensembl transcript ID

ENST00000395527

Genbank transcript ID

N/A

UniProt peptide

Q5M775

alteration type

single base exchange

alteration region

CDS

DNA changes

c.877A>T
cDNA.960A>T
g.195583A>T

AA changes

M293L Score: 15 explain score(s)

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

293

frameshift

known variant

Reference ID: rs2703806

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1755	593	2348
ExAC	28714	-24661	4053

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.459	0.013
	-0.605	0
(flanking)	0.033	0

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

594

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

293

mutated

all conserved

293

Ptroglodytes

no homologue

Mmulatta

all conserved

ENSMMUG00000018579

293

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000042331

292

Ggallus

all conserved

ENSGALG00000004400

290

Trubripes

not conserved

ENSTRUG00000001159

175

Drerio

not conserved

ENSDARG00000029480

293

Dmelanogaster

all identical

FBgn0025633

316

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000006748

203

protein features

start (aa)	end (aa)	feature	details
260	372	COMPBIAS	Ser-rich.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3207 / 3207

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

1069 / 1069

position of stopcodon in wt / mu cDNA

3290 / 3290

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

84 / 84

chromosome

strand

last intron/exon boundary

3201

theoretical NMD boundary in CDS

3067

length of CDS

3207

coding sequence (CDS) position

877

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

960

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

195583

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

20108239

original gDNA sequence snippet

GAAGCCCAACTGGAAATCAGATGTCCAGTGACATTGATGAG

altered gDNA sequence snippet

GAAGCCCAACTGGAAATCAGTTGTCCAGTGACATTGATGAG

original cDNA sequence snippet

GAAGCCCAACTGGAAATCAGATGTCCAGTGACATTGATGAG

altered cDNA sequence snippet

GAAGCCCAACTGGAAATCAGTTGTCCAGTGACATTGATGAG

wildtype AA sequence

MRSAAKPWNP AIRAGGHGPD RVRPLPAASS GMKSSKSSTS LAFESRLSRL KRASSEDTLN
KPGSTAASGV VRLKKTATAG AISELTESRL RSGTGAFTTT KRTGIPAPRE FSVTVSRERS
VPRGPSNPRK SVSSPTSSNT PTPTKHLRTP STKPKQENEG GEKAALESQV RELLAEAKAK
DSEINRLRSE LKKYKEKRTL NAEGTDALGP NVDGTSVSPG DTEPMIRALE EKNKNFQKEL
SDLEEENRVL KEKLIYLEHS PNSEGAASHT GDSSCPTSIT QESSFGSPTG NQMSSDIDEY
KKNIHGNALR TSGSSSSDVT KASLSPDASD FEHITAETPS RPLSSTSNPF KSSKCSTAGS
SPNSVSELSL ASLTEKIQKM EENHHSTAEE LQATLQELSD QQQMVQELTA ENEKLVDEKT
ILETSFHQHR ERAEQLSQEN EKLMNLLQER VKNEEPTTQE GKIIELEQKC TGILEQGRFE
REKLLNIQQQ LTCSLRKVEE ENQGALEMIK RLKEENEKLN EFLELERHNN NMMAKTLEEC
RVTLEGLKME NGSLKSHLQG EKQKATEASA VEQTAESCEV QEMLKVARAE KDLLELSCNE
LRQELLKANG EIKHVSSLLA KVEKDYSYLK EICDHQAEQL SRTSLKLQEK ASESDAEIKD
MKETIFELED QVEQHRAVKL HNNQLISELE SSVIKLEEQK SDLERQLKTL TKQMKEETEE
WRRFQADLQT AVVVANDIKC EAQQELRTVK RKLLEEEEKN ARLQKELGDV QGHGRVVTSR
AAPPPVDEEP ESSEVDAAGR WPGVCVSRTS PTPPESATTV KSLIKSFDLG RPGGAGQNIS
VHKTPRSPLS GIPVRTAPAA AVSPMQRHST YSSVRPASRG VTQRLDLPDL PLSDILKGRT
ETLKPDPHLR KSPSLESLSR PPSLGFGDTR LLSASTRAWK PQSKLSVERK DPLAALAREY
GGSKRNALLK WCQKKTQGYA NIDITNFSSS WSDGLAFCAL LHTYLPAHIP YQELNSQEKK
RNLLLAFEAA ESVGIKPSLE LSEMLYTDRP DWQSVMQYVA QIYKYFET*

mutated AA sequence

MRSAAKPWNP AIRAGGHGPD RVRPLPAASS GMKSSKSSTS LAFESRLSRL KRASSEDTLN
KPGSTAASGV VRLKKTATAG AISELTESRL RSGTGAFTTT KRTGIPAPRE FSVTVSRERS
VPRGPSNPRK SVSSPTSSNT PTPTKHLRTP STKPKQENEG GEKAALESQV RELLAEAKAK
DSEINRLRSE LKKYKEKRTL NAEGTDALGP NVDGTSVSPG DTEPMIRALE EKNKNFQKEL
SDLEEENRVL KEKLIYLEHS PNSEGAASHT GDSSCPTSIT QESSFGSPTG NQLSSDIDEY
KKNIHGNALR TSGSSSSDVT KASLSPDASD FEHITAETPS RPLSSTSNPF KSSKCSTAGS
SPNSVSELSL ASLTEKIQKM EENHHSTAEE LQATLQELSD QQQMVQELTA ENEKLVDEKT
ILETSFHQHR ERAEQLSQEN EKLMNLLQER VKNEEPTTQE GKIIELEQKC TGILEQGRFE
REKLLNIQQQ LTCSLRKVEE ENQGALEMIK RLKEENEKLN EFLELERHNN NMMAKTLEEC
RVTLEGLKME NGSLKSHLQG EKQKATEASA VEQTAESCEV QEMLKVARAE KDLLELSCNE
LRQELLKANG EIKHVSSLLA KVEKDYSYLK EICDHQAEQL SRTSLKLQEK ASESDAEIKD
MKETIFELED QVEQHRAVKL HNNQLISELE SSVIKLEEQK SDLERQLKTL TKQMKEETEE
WRRFQADLQT AVVVANDIKC EAQQELRTVK RKLLEEEEKN ARLQKELGDV QGHGRVVTSR
AAPPPVDEEP ESSEVDAAGR WPGVCVSRTS PTPPESATTV KSLIKSFDLG RPGGAGQNIS
VHKTPRSPLS GIPVRTAPAA AVSPMQRHST YSSVRPASRG VTQRLDLPDL PLSDILKGRT
ETLKPDPHLR KSPSLESLSR PPSLGFGDTR LLSASTRAWK PQSKLSVERK DPLAALAREY
GGSKRNALLK WCQKKTQGYA NIDITNFSSS WSDGLAFCAL LHTYLPAHIP YQELNSQEKK
RNLLLAFEAA ESVGIKPSLE LSEMLYTDRP DWQSVMQYVA QIYKYFET*

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

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999968 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:20108239A>TN/A show variant in all transcripts IGV

HGNC symbol

SPECC1

Ensembl transcript ID

ENST00000395529

Genbank transcript ID

NM_001243438

UniProt peptide

Q5M775

alteration type

single base exchange

alteration region

CDS

DNA changes

c.877A>T
cDNA.929A>T
g.195583A>T

AA changes

M293L Score: 15 explain score(s)

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

293

frameshift

known variant

Reference ID: rs2703806

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1755	593	2348
ExAC	28714	-24661	4053

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.459	0.013
	-0.605	0
(flanking)	0.033	0

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

594

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

293

mutated

all conserved

293

Ptroglodytes

no homologue

Mmulatta

all conserved

ENSMMUG00000018579

293

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000042331

292

Ggallus

all conserved

ENSGALG00000004400

290

Trubripes

not conserved

ENSTRUG00000001159

175

Drerio

not conserved

ENSDARG00000029480

293

Dmelanogaster

all identical

FBgn0025633

316

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000006748

203

protein features

start (aa)	end (aa)	feature	details
260	372	COMPBIAS	Ser-rich.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2373 / 2373

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

791 / 791

position of stopcodon in wt / mu cDNA

2425 / 2425

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

53 / 53

chromosome

strand

last intron/exon boundary

2404

theoretical NMD boundary in CDS

2301

length of CDS

2373

coding sequence (CDS) position

877

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

929

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

195583

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

20108239

original gDNA sequence snippet

GAAGCCCAACTGGAAATCAGATGTCCAGTGACATTGATGAG

altered gDNA sequence snippet

GAAGCCCAACTGGAAATCAGTTGTCCAGTGACATTGATGAG

original cDNA sequence snippet

GAAGCCCAACTGGAAATCAGATGTCCAGTGACATTGATGAG

altered cDNA sequence snippet

GAAGCCCAACTGGAAATCAGTTGTCCAGTGACATTGATGAG

wildtype AA sequence

mutated AA sequence

MRSAAKPWNP AIRAGGHGPD RVRPLPAASS GMKSSKSSTS LAFESRLSRL KRASSEDTLN
KPGSTAASGV VRLKKTATAG AISELTESRL RSGTGAFTTT KRTGIPAPRE FSVTVSRERS
VPRGPSNPRK SVSSPTSSNT PTPTKHLRTP STKPKQENEG GEKAALESQV RELLAEAKAK
DSEINRLRSE LKKYKEKRTL NAEGTDALGP NVDGTSVSPG DTEPMIRALE EKNKNFQKEL
SDLEEENRVL KEKLIYLEHS PNSEGAASHT GDSSCPTSIT QESSFGSPTG NQLSSDIDEY
KKNIHGNALR TSGSSSSDVT KASLSPDASD FEHITAETPS RPLSSTSNPF KSSKCSTAGS
SPNSVSELSL ASLTEKIQKM EENHHSTAEE LQATLQELSD QQQMVQELTA ENEKLVDEKT
ILETSFHQHR ERAEQLSQEN EKLMNLLQER VKNEEPTTQE GKIIELEQKC TGILEQGRFE
REKLLNIQQQ LTCSLRKVEE ENQGALEMIK RLKEENEKLN EFLELERHNN NMMAKTLEEC
RVTLEGLKME NGSLKSHLQG EKQKATEASA VEQTAESCEV QEMLKVARAE KDLLELSCNE
LRQELLKANG EIKHVSSLLA KVEKDYSYLK EICDHQAEQL SRTSLKLQEK ASESDAEIKD
MKETIFELED QVEQHRAVKL HNNQLISELE SSVIKLEEQK SDLERQLKTL TKQMKEETEE
WRRFQADLQT AVVVANDIKC EAQQELRTVK RKLLEEEEKN ARLQKELGDV QGHGRVVTSR
AAPPSLGSVS *

speed

0.65 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999968 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:20108239A>TN/A show variant in all transcripts IGV

HGNC symbol

SPECC1

Ensembl transcript ID

ENST00000261503

Genbank transcript ID

NM_001033553

UniProt peptide

Q5M775

alteration type

single base exchange

alteration region

CDS

DNA changes

c.877A>T
cDNA.928A>T
g.195583A>T

AA changes

M293L Score: 15 explain score(s)

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

293

frameshift

known variant

Reference ID: rs2703806

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1755	593	2348
ExAC	28714	-24661	4053

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.459	0.013
	-0.605	0
(flanking)	0.033	0

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

594

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

293

mutated

all conserved

293

Ptroglodytes

no homologue

Mmulatta

all conserved

ENSMMUG00000018579

293

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000042331

292

Ggallus

all conserved

ENSGALG00000004400

290

Trubripes

not conserved

ENSTRUG00000001159

175

Drerio

not conserved

ENSDARG00000029480

293

Dmelanogaster

all identical

FBgn0025633

316

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000006748

203

protein features

start (aa)	end (aa)	feature	details
260	372	COMPBIAS	Ser-rich.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3207 / 3207

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

1069 / 1069

position of stopcodon in wt / mu cDNA

3258 / 3258

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

52 / 52

chromosome

strand

last intron/exon boundary

3169

theoretical NMD boundary in CDS

3067

length of CDS

3207

coding sequence (CDS) position

877

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

928

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

195583

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

20108239

original gDNA sequence snippet

GAAGCCCAACTGGAAATCAGATGTCCAGTGACATTGATGAG

altered gDNA sequence snippet

GAAGCCCAACTGGAAATCAGTTGTCCAGTGACATTGATGAG

original cDNA sequence snippet

GAAGCCCAACTGGAAATCAGATGTCCAGTGACATTGATGAG

altered cDNA sequence snippet

GAAGCCCAACTGGAAATCAGTTGTCCAGTGACATTGATGAG

wildtype AA sequence

mutated AA sequence

MRSAAKPWNP AIRAGGHGPD RVRPLPAASS GMKSSKSSTS LAFESRLSRL KRASSEDTLN
KPGSTAASGV VRLKKTATAG AISELTESRL RSGTGAFTTT KRTGIPAPRE FSVTVSRERS
VPRGPSNPRK SVSSPTSSNT PTPTKHLRTP STKPKQENEG GEKAALESQV RELLAEAKAK
DSEINRLRSE LKKYKEKRTL NAEGTDALGP NVDGTSVSPG DTEPMIRALE EKNKNFQKEL
SDLEEENRVL KEKLIYLEHS PNSEGAASHT GDSSCPTSIT QESSFGSPTG NQLSSDIDEY
KKNIHGNALR TSGSSSSDVT KASLSPDASD FEHITAETPS RPLSSTSNPF KSSKCSTAGS
SPNSVSELSL ASLTEKIQKM EENHHSTAEE LQATLQELSD QQQMVQELTA ENEKLVDEKT
ILETSFHQHR ERAEQLSQEN EKLMNLLQER VKNEEPTTQE GKIIELEQKC TGILEQGRFE
REKLLNIQQQ LTCSLRKVEE ENQGALEMIK RLKEENEKLN EFLELERHNN NMMAKTLEEC
RVTLEGLKME NGSLKSHLQG EKQKATEASA VEQTAESCEV QEMLKVARAE KDLLELSCNE
LRQELLKANG EIKHVSSLLA KVEKDYSYLK EICDHQAEQL SRTSLKLQEK ASESDAEIKD
MKETIFELED QVEQHRAVKL HNNQLISELE SSVIKLEEQK SDLERQLKTL TKQMKEETEE
WRRFQADLQT AVVVANDIKC EAQQELRTVK RKLLEEEEKN ARLQKELGDV QGHGRVVTSR
AAPPPVDEEP ESSEVDAAGR WPGVCVSRTS PTPPESATTV KSLIKSFDLG RPGGAGQNIS
VHKTPRSPLS GIPVRTAPAA AVSPMQRHST YSSVRPASRG VTQRLDLPDL PLSDILKGRT
ETLKPDPHLR KSPSLESLSR PPSLGFGDTR LLSASTRAWK PQSKLSVERK DPLAALAREY
GGSKRNALLK WCQKKTQGYA NIDITNFSSS WSDGLAFCAL LHTYLPAHIP YQELNSQEKK
RNLLLAFEAA ESVGIKPSLE LSEMLYTDRP DWQSVMQYVA QIYKYFET*

speed

1.17 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999999987 (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)

chr17:20108239A>TN/A show variant in all transcripts IGV

HGNC symbol

SPECC1

Ensembl transcript ID

ENST00000395522

Genbank transcript ID

N/A

UniProt peptide

Q5M775

alteration type

single base exchange

alteration region

CDS

DNA changes

c.634A>T
cDNA.748A>T
g.195583A>T

AA changes

M212L Score: 15 explain score(s)

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

212

frameshift

known variant

Reference ID: rs2703806

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1755	593	2348
ExAC	28714	-24661	4053

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.459	0.013
	-0.605	0
(flanking)	0.033	0

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

594

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

212

mutated

all conserved

212

Ptroglodytes

no homologue

Mmulatta

all conserved

ENSMMUG00000018579

293

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000042331

292

Ggallus

all conserved

ENSGALG00000004400

290

Trubripes

not conserved

ENSTRUG00000001159

175

Drerio

not conserved

ENSDARG00000029480

292

Dmelanogaster

all identical

FBgn0025633

316

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000006748

203

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2112 / 2112

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

704 / 704

position of stopcodon in wt / mu cDNA

2226 / 2226

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

115 / 115

chromosome

strand

last intron/exon boundary

2232

theoretical NMD boundary in CDS

2067

length of CDS

2112

coding sequence (CDS) position

634

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

748

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

195583

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

20108239

original gDNA sequence snippet

GAAGCCCAACTGGAAATCAGATGTCCAGTGACATTGATGAG

altered gDNA sequence snippet

GAAGCCCAACTGGAAATCAGTTGTCCAGTGACATTGATGAG

original cDNA sequence snippet

GAAGCCCAACTGGAAATCAGATGTCCAGTGACATTGATGAG

altered cDNA sequence snippet

GAAGCCCAACTGGAAATCAGTTGTCCAGTGACATTGATGAG

wildtype AA sequence

MGNHSGRPED PEPGAFTTTK RTGIPAPREF SVTVSRERSV PRGPSNPRKS VSSPTSSNTP
TPTKHLRTPS TKPKQENEGG EKAALESQVR ELLAEAKAKD SEINRLRSEL KKYKEKRTLN
AEGTDALGPN VDGTSVSPGD TEPMIRALEE KNKNFQKELS DLEEENRVLK EKLIYLEHSP
NSEGAASHTG DSSCPTSITQ ESSFGSPTGN QMSSDIDEYK KNIHGNALRT SGSSSSDVTK
ASLSPDASDF EHITAETPSR PLSSTSNPFK SSKCSTAGSS PNSVSELSLA SLTEKIQKME
ENHHSTAEEL QATLQELSDQ QQMVQELTAE NEKLVDEKTI LETSFHQHRE RAEQLSQENE
KLMNLLQERV KNEEPTTQEG KIIELEQKCT GILEQGRFER EKLLNIQQQL TCSLRKVEEE
NQGALEMIKR LKEENEKLNE FLELERHNNN MMAKTLEECR VTLEGLKMEN GSLKSHLQGE
KQKATEASAV EQTAESCEVQ EMLKVARAEK DLLELSCNEL RQELLKANGE IKHVSSLLAK
VEKDYSYLKE ICDHQAEQLS RTSLKLQEKA SESDAEIKDM KETIFELEDQ VEQHRAVKLH
NNQLISELES SVIKLEEQKS DLERQLKTLT KQMKEETEEW RRFQADLQTA VVVANDIKCE
AQQELRTVKR KLLEEEEKNA RLQKELGDVQ GHGRVVTSRA APP*

mutated AA sequence

MGNHSGRPED PEPGAFTTTK RTGIPAPREF SVTVSRERSV PRGPSNPRKS VSSPTSSNTP
TPTKHLRTPS TKPKQENEGG EKAALESQVR ELLAEAKAKD SEINRLRSEL KKYKEKRTLN
AEGTDALGPN VDGTSVSPGD TEPMIRALEE KNKNFQKELS DLEEENRVLK EKLIYLEHSP
NSEGAASHTG DSSCPTSITQ ESSFGSPTGN QLSSDIDEYK KNIHGNALRT SGSSSSDVTK
ASLSPDASDF EHITAETPSR PLSSTSNPFK SSKCSTAGSS PNSVSELSLA SLTEKIQKME
ENHHSTAEEL QATLQELSDQ QQMVQELTAE NEKLVDEKTI LETSFHQHRE RAEQLSQENE
KLMNLLQERV KNEEPTTQEG KIIELEQKCT GILEQGRFER EKLLNIQQQL TCSLRKVEEE
NQGALEMIKR LKEENEKLNE FLELERHNNN MMAKTLEECR VTLEGLKMEN GSLKSHLQGE
KQKATEASAV EQTAESCEVQ EMLKVARAEK DLLELSCNEL RQELLKANGE IKHVSSLLAK
VEKDYSYLKE ICDHQAEQLS RTSLKLQEKA SESDAEIKDM KETIFELEDQ VEQHRAVKLH
NNQLISELES SVIKLEEQKS DLERQLKTLT KQMKEETEEW RRFQADLQTA VVVANDIKCE
AQQELRTVKR KLLEEEEKNA RLQKELGDVQ GHGRVVTSRA APP*

speed

1.10 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999999987 (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)

chr17:20108239A>TN/A show variant in all transcripts IGV

HGNC symbol

SPECC1

Ensembl transcript ID

ENST00000395525

Genbank transcript ID

NM_001033554

UniProt peptide

Q5M775

alteration type

single base exchange

alteration region

CDS

DNA changes

c.634A>T
cDNA.742A>T
g.195583A>T

AA changes

M212L Score: 15 explain score(s)

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

212

frameshift

known variant

Reference ID: rs2703806

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1755	593	2348
ExAC	28714	-24661	4053

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.459	0.013
	-0.605	0
(flanking)	0.033	0

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

594

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

212

mutated

all conserved

212

Ptroglodytes

no homologue

Mmulatta

all conserved

ENSMMUG00000018579

293

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000042331

292

Ggallus

all conserved

ENSGALG00000004400

290

Trubripes

not conserved

ENSTRUG00000001159

175

Drerio

not conserved

ENSDARG00000029480

292

Dmelanogaster

all identical

FBgn0025633

316

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000006748

203

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2130 / 2130

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

710 / 710

position of stopcodon in wt / mu cDNA

2238 / 2238

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

109 / 109

chromosome

strand

last intron/exon boundary

2217

theoretical NMD boundary in CDS

2058

length of CDS

2130

coding sequence (CDS) position

634

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

742

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

195583

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

20108239

original gDNA sequence snippet

GAAGCCCAACTGGAAATCAGATGTCCAGTGACATTGATGAG

altered gDNA sequence snippet

GAAGCCCAACTGGAAATCAGTTGTCCAGTGACATTGATGAG

original cDNA sequence snippet

GAAGCCCAACTGGAAATCAGATGTCCAGTGACATTGATGAG

altered cDNA sequence snippet

GAAGCCCAACTGGAAATCAGTTGTCCAGTGACATTGATGAG

wildtype AA sequence

mutated AA sequence

MGNHSGRPED PEPGAFTTTK RTGIPAPREF SVTVSRERSV PRGPSNPRKS VSSPTSSNTP
TPTKHLRTPS TKPKQENEGG EKAALESQVR ELLAEAKAKD SEINRLRSEL KKYKEKRTLN
AEGTDALGPN VDGTSVSPGD TEPMIRALEE KNKNFQKELS DLEEENRVLK EKLIYLEHSP
NSEGAASHTG DSSCPTSITQ ESSFGSPTGN QLSSDIDEYK KNIHGNALRT SGSSSSDVTK
ASLSPDASDF EHITAETPSR PLSSTSNPFK SSKCSTAGSS PNSVSELSLA SLTEKIQKME
ENHHSTAEEL QATLQELSDQ QQMVQELTAE NEKLVDEKTI LETSFHQHRE RAEQLSQENE
KLMNLLQERV KNEEPTTQEG KIIELEQKCT GILEQGRFER EKLLNIQQQL TCSLRKVEEE
NQGALEMIKR LKEENEKLNE FLELERHNNN MMAKTLEECR VTLEGLKMEN GSLKSHLQGE
KQKATEASAV EQTAESCEVQ EMLKVARAEK DLLELSCNEL RQELLKANGE IKHVSSLLAK
VEKDYSYLKE ICDHQAEQLS RTSLKLQEKA SESDAEIKDM KETIFELEDQ VEQHRAVKLH
NNQLISELES SVIKLEEQKS DLERQLKTLT KQMKEETEEW RRFQADLQTA VVVANDIKCE
AQQELRTVKR KLLEEEEKNA RLQKELGDVQ GHGRVVTSRA APPSLGSVS*

speed

1.25 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999999987 (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)

chr17:20108239A>TN/A show variant in all transcripts IGV

HGNC symbol

SPECC1

Ensembl transcript ID

ENST00000395530

Genbank transcript ID

NM_001033555

UniProt peptide

Q5M775

alteration type

single base exchange

alteration region

CDS

DNA changes

c.634A>T
cDNA.842A>T
g.195583A>T

AA changes

M212L Score: 15 explain score(s)

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

212

frameshift

known variant

Reference ID: rs2703806

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1755	593	2348
ExAC	28714	-24661	4053

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.459	0.013
	-0.605	0
(flanking)	0.033	0

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

594

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

212

mutated

all conserved

212

Ptroglodytes

no homologue

Mmulatta

all conserved

ENSMMUG00000018579

293

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000042331

292

Ggallus

all conserved

ENSGALG00000004400

290

Trubripes

not conserved

ENSTRUG00000001159

175

Drerio

not conserved

ENSDARG00000029480

292

Dmelanogaster

all identical

FBgn0025633

316

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000006748

203

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2964 / 2964

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

988 / 988

position of stopcodon in wt / mu cDNA

3172 / 3172

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

209 / 209

chromosome

strand

last intron/exon boundary

3083

theoretical NMD boundary in CDS

2824

length of CDS

2964

coding sequence (CDS) position

634

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

842

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

195583

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

20108239

original gDNA sequence snippet

GAAGCCCAACTGGAAATCAGATGTCCAGTGACATTGATGAG

altered gDNA sequence snippet

GAAGCCCAACTGGAAATCAGTTGTCCAGTGACATTGATGAG

original cDNA sequence snippet

GAAGCCCAACTGGAAATCAGATGTCCAGTGACATTGATGAG

altered cDNA sequence snippet

GAAGCCCAACTGGAAATCAGTTGTCCAGTGACATTGATGAG

wildtype AA sequence

mutated AA sequence

MGNHSGRPED PEPGAFTTTK RTGIPAPREF SVTVSRERSV PRGPSNPRKS VSSPTSSNTP
TPTKHLRTPS TKPKQENEGG EKAALESQVR ELLAEAKAKD SEINRLRSEL KKYKEKRTLN
AEGTDALGPN VDGTSVSPGD TEPMIRALEE KNKNFQKELS DLEEENRVLK EKLIYLEHSP
NSEGAASHTG DSSCPTSITQ ESSFGSPTGN QLSSDIDEYK KNIHGNALRT SGSSSSDVTK
ASLSPDASDF EHITAETPSR PLSSTSNPFK SSKCSTAGSS PNSVSELSLA SLTEKIQKME
ENHHSTAEEL QATLQELSDQ QQMVQELTAE NEKLVDEKTI LETSFHQHRE RAEQLSQENE
KLMNLLQERV KNEEPTTQEG KIIELEQKCT GILEQGRFER EKLLNIQQQL TCSLRKVEEE
NQGALEMIKR LKEENEKLNE FLELERHNNN MMAKTLEECR VTLEGLKMEN GSLKSHLQGE
KQKATEASAV EQTAESCEVQ EMLKVARAEK DLLELSCNEL RQELLKANGE IKHVSSLLAK
VEKDYSYLKE ICDHQAEQLS RTSLKLQEKA SESDAEIKDM KETIFELEDQ VEQHRAVKLH
NNQLISELES SVIKLEEQKS DLERQLKTLT KQMKEETEEW RRFQADLQTA VVVANDIKCE
AQQELRTVKR KLLEEEEKNA RLQKELGDVQ GHGRVVTSRA APPPVDEEPE SSEVDAAGRW
PGVCVSRTSP TPPESATTVK SLIKSFDLGR PGGAGQNISV HKTPRSPLSG IPVRTAPAAA
VSPMQRHSTY SSVRPASRGV TQRLDLPDLP LSDILKGRTE TLKPDPHLRK SPSLESLSRP
PSLGFGDTRL LSASTRAWKP QSKLSVERKD PLAALAREYG GSKRNALLKW CQKKTQGYAN
IDITNFSSSW SDGLAFCALL HTYLPAHIPY QELNSQEKKR NLLLAFEAAE SVGIKPSLEL
SEMLYTDRPD WQSVMQYVAQ IYKYFET*

speed

1.15 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999171850464 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:20108239A>TN/A show variant in all transcripts IGV

HGNC symbol

SPECC1

Ensembl transcript ID

ENST00000536879

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.195583A>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2703806

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1755	593	2348
ExAC	28714	-24661	4053

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.459	0.013
	-0.605	0
(flanking)	0.033	0

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

22487

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

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

283 / 283

chromosome

strand

last intron/exon boundary

1420

theoretical NMD boundary in CDS

1087

length of CDS

1227

coding sequence (CDS) position

N/A

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

N/A

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

195583

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

20108239

original gDNA sequence snippet

GAAGCCCAACTGGAAATCAGATGTCCAGTGACATTGATGAG

altered gDNA sequence snippet

GAAGCCCAACTGGAAATCAGTTGTCCAGTGACATTGATGAG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MKETIFELED QVEQHRAVKL HNNQLISELE SSVIKLEEQK SDLERQLKTL TKQMKEETEE
WRRFQADLQT AVVVANDIKC EAQQELRTVK RKLLEEEEKN ARLQKELGDV QGHGRVVTSR
AAPPPVDEEP ESSEVDAAGR WPGVCVSRTS PTPPESATTV KSLIKSFDLG RPGGAGQNIS
VHKTPRSPLS GIPVRTAPAA AVSPMQRHST YSSVRPASRG VTQRLDLPDL PLSDILKGRT
ETLKPDPHLR KSPSLESLSR PPSLGFGDTR LLSASTRAWK PQSKLSVERK DPLAALAREY
GGSKRNALLK WCQKKTQGYA NIDITNFSSS WSDGLAFCAL LHTYLPAHIP YQELNSQEKK
RNLLLAFEAA ESVGIKPSLE LSEMLYTDRP DWQSVMQYVA QIYKYFET*

mutated AA sequence

N/A

speed

1.00 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems