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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000346932
Querying Taster for transcript #2: ENST00000350527
Querying Taster for transcript #3: ENST00000308713
Querying Taster for transcript #4: ENST00000537485
MT speed 2.61 s - this script 4.099599 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
SEZ6L2	polymorphism_automatic	5.40179953989472e-07	simple_aae				R74P	single base exchange	rs11649499		show file
SEZ6L2	polymorphism_automatic	5.55248239053618e-07	simple_aae				R74P	single base exchange	rs11649499		show file
SEZ6L2	polymorphism_automatic	2.49768392701633e-06	simple_aae				R30P	single base exchange	rs11649499		show file
SEZ6L2	polymorphism_automatic	0.999999996571843	without_aae					single base exchange	rs11649499		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999459820046 (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)

chr16:29908433C>GN/A show variant in all transcripts IGV

HGNC symbol

SEZ6L2

Ensembl transcript ID

ENST00000346932

Genbank transcript ID

NM_001114100

UniProt peptide

Q6UXD5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.221G>C
cDNA.266G>C
g.2436G>C

AA changes

R74P Score: 103 explain score(s)

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

frameshift

known variant

Reference ID: rs11649499

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1517	727	2244
ExAC	25092	-17417	7675

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.343	0.996
	0.267	0.995
(flanking)	1.989	0.996

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

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000007973

Mmulatta

not conserved

ENSMMUG00000018986

Fcatus

not conserved

ENSFCAG00000014159

Mmusculus

not conserved

ENSMUSG00000030683

Ggallus

no homologue

Trubripes

no alignment

ENSTRUG00000003228

n/a

Drerio

not conserved

ENSDARG00000076052

Dmelanogaster

no alignment

FBgn0001083

n/a

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000011339

protein features

start (aa)	end (aa)	feature	details
28	844	TOPO_DOM	Extracellular (Potential).	lost
70	146	COMPBIAS	Pro-rich.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2430 / 2430

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

810 / 810

position of stopcodon in wt / mu cDNA

2475 / 2475

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

46 / 46

chromosome

strand

-1

last intron/exon boundary

2446

theoretical NMD boundary in CDS

2350

length of CDS

2430

coding sequence (CDS) position

221

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

266

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

2436

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

29908433

original gDNA sequence snippet

CACTGTCCCAGGATCTGATCGGGACCCCACGCTAGCCACCC

altered gDNA sequence snippet

CACTGTCCCAGGATCTGATCCGGACCCCACGCTAGCCACCC

original cDNA sequence snippet

CTACCTGCCAGGATCTGATCGGGACCCCACGCTAGCCACCC

altered cDNA sequence snippet

CTACCTGCCAGGATCTGATCCGGACCCCACGCTAGCCACCC

wildtype AA sequence

MGTPRAQHPP PPQLLFLILL SCPWIQGLPL KEEEILPEPG SETPTVASEA LAELLHGALL
RRGPEMGYLP GSDRDPTLAT PPAGQTLAVP SLPRATEPGT GPLTTAVTPN GVRGAGPTAP
ELLTPPPGTT APPPPSPASP GPPLGPEGGE EETTTTIITT TTVTTTVTSP AYLLSCGFPP
RPAHGDVSVT DLHPGGTATF HCDSGYQLQG EETLICLNGT RPSWNGETPS CMASCGGTIH
NATLGRIVSP EPGGAVGPNL TCRWVIEAAE GRRLHLHFER VSLDEDNDRL MVRSGGSPLS
PVIYDSDMDD VPERGLISDA QSLYVELLSE TPANPLLLSL RFEAFEEDRC FAPFLAHGNV
TTTDPEYRPG ALATFSCLPG YALEPPGPPN AIECVDPTEP HWNDTEPACK AMCGGELSEP
AGVVLSPDWP QSYSPGQDCV WGVHVQEEKR ILLQVEILNV REGDMLTLFD GDGPSARVLA
QLRGPQPRRR LLSSGPDLTL QFQAPPGPPN PGLGQGFVLH FKEVPRNDTC PELPPPEWGW
RTASHGDLIR GTVLTYQCEP GYELLGSDIL TCQWDLSWSA APPACQKIMT CADPGEIANG
HRTASDAGFP VGSHVQYRCL PGYSLEGAAM LTCYSRDTGT PKWSDRVPKC ALKYEPCLNP
GVPENGYQTL YKHHYQAGES LRFFCYEGFE LIGEVTITCV PGHPSQWTSQ PPLCKVAYEE
LLDNRKLEVT QTTDPSRQLE GGNLALAILL PLGLVIVLGS GVYIYYTKLQ GKSLFGFSGS
HSYSPITVES DFSNPLYEAG DTREYEVSI*

mutated AA sequence

MGTPRAQHPP PPQLLFLILL SCPWIQGLPL KEEEILPEPG SETPTVASEA LAELLHGALL
RRGPEMGYLP GSDPDPTLAT PPAGQTLAVP SLPRATEPGT GPLTTAVTPN GVRGAGPTAP
ELLTPPPGTT APPPPSPASP GPPLGPEGGE EETTTTIITT TTVTTTVTSP AYLLSCGFPP
RPAHGDVSVT DLHPGGTATF HCDSGYQLQG EETLICLNGT RPSWNGETPS CMASCGGTIH
NATLGRIVSP EPGGAVGPNL TCRWVIEAAE GRRLHLHFER VSLDEDNDRL MVRSGGSPLS
PVIYDSDMDD VPERGLISDA QSLYVELLSE TPANPLLLSL RFEAFEEDRC FAPFLAHGNV
TTTDPEYRPG ALATFSCLPG YALEPPGPPN AIECVDPTEP HWNDTEPACK AMCGGELSEP
AGVVLSPDWP QSYSPGQDCV WGVHVQEEKR ILLQVEILNV REGDMLTLFD GDGPSARVLA
QLRGPQPRRR LLSSGPDLTL QFQAPPGPPN PGLGQGFVLH FKEVPRNDTC PELPPPEWGW
RTASHGDLIR GTVLTYQCEP GYELLGSDIL TCQWDLSWSA APPACQKIMT CADPGEIANG
HRTASDAGFP VGSHVQYRCL PGYSLEGAAM LTCYSRDTGT PKWSDRVPKC ALKYEPCLNP
GVPENGYQTL YKHHYQAGES LRFFCYEGFE LIGEVTITCV PGHPSQWTSQ PPLCKVAYEE
LLDNRKLEVT QTTDPSRQLE GGNLALAILL PLGLVIVLGS GVYIYYTKLQ GKSLFGFSGS
HSYSPITVES DFSNPLYEAG DTREYEVSI*

speed

0.72 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: 0.999999444751761 (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)

chr16:29908433C>GN/A show variant in all transcripts IGV

HGNC symbol

SEZ6L2

Ensembl transcript ID

ENST00000308713

Genbank transcript ID

NM_201575

UniProt peptide

Q6UXD5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.221G>C
cDNA.749G>C
g.2436G>C

AA changes

R74P Score: 103 explain score(s)

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

frameshift

known variant

Reference ID: rs11649499

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1517	727	2244
ExAC	25092	-17417	7675

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.343	0.996
	0.267	0.995
(flanking)	1.989	0.996

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

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000007973

Mmulatta

not conserved

ENSMMUG00000018986

Fcatus

not conserved

ENSFCAG00000014159

Mmusculus

not conserved

ENSMUSG00000030683

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000003228

Drerio

not conserved

ENSDARG00000076052

Dmelanogaster

no alignment

FBgn0001083

n/a

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000011339

protein features

start (aa)	end (aa)	feature	details
28	844	TOPO_DOM	Extracellular (Potential).	lost
70	146	COMPBIAS	Pro-rich.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2733 / 2733

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

911 / 911

position of stopcodon in wt / mu cDNA

3261 / 3261

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

529 / 529

chromosome

strand

-1

last intron/exon boundary

3232

theoretical NMD boundary in CDS

2653

length of CDS

2733

coding sequence (CDS) position

221

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

749

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

2436

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

29908433

original gDNA sequence snippet

CACTGTCCCAGGATCTGATCGGGACCCCACGCTAGCCACCC

altered gDNA sequence snippet

CACTGTCCCAGGATCTGATCCGGACCCCACGCTAGCCACCC

original cDNA sequence snippet

CTACCTGCCAGGATCTGATCGGGACCCCACGCTAGCCACCC

altered cDNA sequence snippet

CTACCTGCCAGGATCTGATCCGGACCCCACGCTAGCCACCC

wildtype AA sequence

MGTPRAQHPP PPQLLFLILL SCPWIQGLPL KEEEILPEPG SETPTVASEA LAELLHGALL
RRGPEMGYLP GSDRDPTLAT PPAGQTLAVP SLPRATEPGT GPLTTAVTPN GVRGAGPTAP
ELLTPPPGTT APPPPSPASP GPPLGPEGGE EETTTTIITT TTVTTTVTSP VLCNNNISEG
EGYVESPDLG SPVSRTLGLL DCTYSIHVYP GYGIEIQVQT LNLSQEEELL VLAGGGSPGL
APRLLANSSM LGEGQVLRSP TNRLLLHFQS PRVPRGGGFR IHYQAYLLSC GFPPRPAHGD
VSVTDLHPGG TATFHCDSGY QLQGEETLIC LNGTRPSWNG ETPSCMASCG GTIHNATLGR
IVSPEPGGAV GPNLTCRWVI EAAEGRRLHL HFERVSLDED NDRLMVRSGG SPLSPVIYDS
DMDDVPERGL ISDAQSLYVE LLSETPANPL LLSLRFEAFE EDRCFAPFLA HGNVTTTDPE
YRPGALATFS CLPGYALEPP GPPNAIECVD PTEPHWNDTE PACKAMCGGE LSEPAGVVLS
PDWPQSYSPG QDCVWGVHVQ EEKRILLQVE ILNVREGDML TLFDGDGPSA RVLAQLRGPQ
PRRRLLSSGP DLTLQFQAPP GPPNPGLGQG FVLHFKEVPR NDTCPELPPP EWGWRTASHG
DLIRGTVLTY QCEPGYELLG SDILTCQWDL SWSAAPPACQ KIMTCADPGE IANGHRTASD
AGFPVGSHVQ YRCLPGYSLE GAAMLTCYSR DTGTPKWSDR VPKCALKYEP CLNPGVPENG
YQTLYKHHYQ AGESLRFFCY EGFELIGEVT ITCVPGHPSQ WTSQPPLCKV TQTTDPSRQL
EGGNLALAIL LPLGLVIVLG SGVYIYYTKL QGKSLFGFSG SHSYSPITVE SDFSNPLYEA
GDTREYEVSI *

mutated AA sequence

MGTPRAQHPP PPQLLFLILL SCPWIQGLPL KEEEILPEPG SETPTVASEA LAELLHGALL
RRGPEMGYLP GSDPDPTLAT PPAGQTLAVP SLPRATEPGT GPLTTAVTPN GVRGAGPTAP
ELLTPPPGTT APPPPSPASP GPPLGPEGGE EETTTTIITT TTVTTTVTSP VLCNNNISEG
EGYVESPDLG SPVSRTLGLL DCTYSIHVYP GYGIEIQVQT LNLSQEEELL VLAGGGSPGL
APRLLANSSM LGEGQVLRSP TNRLLLHFQS PRVPRGGGFR IHYQAYLLSC GFPPRPAHGD
VSVTDLHPGG TATFHCDSGY QLQGEETLIC LNGTRPSWNG ETPSCMASCG GTIHNATLGR
IVSPEPGGAV GPNLTCRWVI EAAEGRRLHL HFERVSLDED NDRLMVRSGG SPLSPVIYDS
DMDDVPERGL ISDAQSLYVE LLSETPANPL LLSLRFEAFE EDRCFAPFLA HGNVTTTDPE
YRPGALATFS CLPGYALEPP GPPNAIECVD PTEPHWNDTE PACKAMCGGE LSEPAGVVLS
PDWPQSYSPG QDCVWGVHVQ EEKRILLQVE ILNVREGDML TLFDGDGPSA RVLAQLRGPQ
PRRRLLSSGP DLTLQFQAPP GPPNPGLGQG FVLHFKEVPR NDTCPELPPP EWGWRTASHG
DLIRGTVLTY QCEPGYELLG SDILTCQWDL SWSAAPPACQ KIMTCADPGE IANGHRTASD
AGFPVGSHVQ YRCLPGYSLE GAAMLTCYSR DTGTPKWSDR VPKCALKYEP CLNPGVPENG
YQTLYKHHYQ AGESLRFFCY EGFELIGEVT ITCVPGHPSQ WTSQPPLCKV TQTTDPSRQL
EGGNLALAIL LPLGLVIVLG SGVYIYYTKL QGKSLFGFSG SHSYSPITVE SDFSNPLYEA
GDTREYEVSI *

speed

0.76 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999997502316073 (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)

chr16:29908433C>GN/A show variant in all transcripts IGV

HGNC symbol

SEZ6L2

Ensembl transcript ID

ENST00000537485

Genbank transcript ID

NM_001243333

UniProt peptide

Q6UXD5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.89G>C
cDNA.179G>C
g.2436G>C

AA changes

R30P Score: 103 explain score(s)

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

frameshift

known variant

Reference ID: rs11649499

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1517	727	2244
ExAC	25092	-17417	7675

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.343	0.996
	0.267	0.995
(flanking)	1.989	0.996

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

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000007973

RRGPEMGYLPG

Mmulatta

not conserved

ENSMMUG00000018986

RRGPEMGYLPG

Fcatus

not conserved

ENSFCAG00000014159

Mmusculus

not conserved

ENSMUSG00000030683

RKGPEIGFLPG

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000003228

Drerio

not conserved

ENSDARG00000076052

Dmelanogaster

no alignment

FBgn0001083

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000011339

n/a

protein features

start (aa)	end (aa)	feature	details
28	844	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2640 / 2640

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

880 / 880

position of stopcodon in wt / mu cDNA

2730 / 2730

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

91 / 91

chromosome

strand

-1

last intron/exon boundary

2701

theoretical NMD boundary in CDS

2560

length of CDS

2640

coding sequence (CDS) position

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

179

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

2436

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

29908433

original gDNA sequence snippet

CACTGTCCCAGGATCTGATCGGGACCCCACGCTAGCCACCC

altered gDNA sequence snippet

CACTGTCCCAGGATCTGATCCGGACCCCACGCTAGCCACCC

original cDNA sequence snippet

CTGGATCCAGGGATCTGATCGGGACCCCACGCTAGCCACCC

altered cDNA sequence snippet

CTGGATCCAGGGATCTGATCCGGACCCCACGCTAGCCACCC

wildtype AA sequence

MGTPRAQHPP PPQLLFLILL SCPWIQGSDR DPTLATPPAG QTLAVPSLPR ATEPGTGPLT
TAVTPNGVRG AGPTAPELLT PPPGTTAPPP PSPASPGPPL GPEGGEEETT TTIITTTTVT
TTVTSPVLCN NNISEGEGYV ESPDLGSPVS RTLGLLDCTY SIHVYPGYGI EIQVQTLNLS
QEEELLVLAG GGSPGLAPRL LANSSMLGEG QVLRSPTNRL LLHFQSPRVP RGGGFRIHYQ
AYLLSCGFPP RPAHGDVSVT DLHPGGTATF HCDSGYQLQG EETLICLNGT RPSWNGETPS
CMASCGGTIH NATLGRIVSP EPGGAVGPNL TCRWVIEAAE GRRLHLHFER VSLDEDNDRL
MVRSGGSPLS PVIYDSDMDD VPERGLISDA QSLYVELLSE TPANPLLLSL RFEAFEEDRC
FAPFLAHGNV TTTDPEYRPG ALATFSCLPG YALEPPGPPN AIECVDPTEP HWNDTEPACK
AMCGGELSEP AGVVLSPDWP QSYSPGQDCV WGVHVQEEKR ILLQVEILNV REGDMLTLFD
GDGPSARVLA QLRGPQPRRR LLSSGPDLTL QFQAPPGPPN PGLGQGFVLH FKEVPRNDTC
PELPPPEWGW RTASHGDLIR GTVLTYQCEP GYELLGSDIL TCQWDLSWSA APPACQKIMT
CADPGEIANG HRTASDAGFP VGSHVQYRCL PGYSLEGAAM LTCYSRDTGT PKWSDRVPKC
ALKYEPCLNP GVPENGYQTL YKHHYQAGES LRFFCYEGFE LIGEVTITCV PGHPSQWTSQ
PPLCKVAYEE LLDNRKLEVT QTTDPSRQLE GGNLALAILL PLGLVIVLGS GVYIYYTKLQ
GKSLFGFSGS HSYSPITVES DFSNPLYEAG DTREYEVSI*

mutated AA sequence

MGTPRAQHPP PPQLLFLILL SCPWIQGSDP DPTLATPPAG QTLAVPSLPR ATEPGTGPLT
TAVTPNGVRG AGPTAPELLT PPPGTTAPPP PSPASPGPPL GPEGGEEETT TTIITTTTVT
TTVTSPVLCN NNISEGEGYV ESPDLGSPVS RTLGLLDCTY SIHVYPGYGI EIQVQTLNLS
QEEELLVLAG GGSPGLAPRL LANSSMLGEG QVLRSPTNRL LLHFQSPRVP RGGGFRIHYQ
AYLLSCGFPP RPAHGDVSVT DLHPGGTATF HCDSGYQLQG EETLICLNGT RPSWNGETPS
CMASCGGTIH NATLGRIVSP EPGGAVGPNL TCRWVIEAAE GRRLHLHFER VSLDEDNDRL
MVRSGGSPLS PVIYDSDMDD VPERGLISDA QSLYVELLSE TPANPLLLSL RFEAFEEDRC
FAPFLAHGNV TTTDPEYRPG ALATFSCLPG YALEPPGPPN AIECVDPTEP HWNDTEPACK
AMCGGELSEP AGVVLSPDWP QSYSPGQDCV WGVHVQEEKR ILLQVEILNV REGDMLTLFD
GDGPSARVLA QLRGPQPRRR LLSSGPDLTL QFQAPPGPPN PGLGQGFVLH FKEVPRNDTC
PELPPPEWGW RTASHGDLIR GTVLTYQCEP GYELLGSDIL TCQWDLSWSA APPACQKIMT
CADPGEIANG HRTASDAGFP VGSHVQYRCL PGYSLEGAAM LTCYSRDTGT PKWSDRVPKC
ALKYEPCLNP GVPENGYQTL YKHHYQAGES LRFFCYEGFE LIGEVTITCV PGHPSQWTSQ
PPLCKVAYEE LLDNRKLEVT QTTDPSRQLE GGNLALAILL PLGLVIVLGS GVYIYYTKLQ
GKSLFGFSGS HSYSPITVES DFSNPLYEAG DTREYEVSI*

speed

0.60 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 3.42815702036121e-09 (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)

chr16:29908433C>GN/A show variant in all transcripts IGV

HGNC symbol

SEZ6L2

Ensembl transcript ID

ENST00000350527

Genbank transcript ID

NM_001243332

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.2436G>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs11649499

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1517	727	2244
ExAC	25092	-17417	7675

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.343	0.996
	0.267	0.995
(flanking)	1.989	0.996

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

201

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

72 / 72

chromosome

strand

-1

last intron/exon boundary

2604

theoretical NMD boundary in CDS

2482

length of CDS

2562

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)

2436

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

29908433

original gDNA sequence snippet

CACTGTCCCAGGATCTGATCGGGACCCCACGCTAGCCACCC

altered gDNA sequence snippet

CACTGTCCCAGGATCTGATCCGGACCCCACGCTAGCCACCC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MGTPRAQHPP PPQLLFLILL SCPWIQGLPL KEEEILPEPG SETPTVASEA LAELLHGALL
RRGPEMGYLP GPPLGPEGGE EETTTTIITT TTVTTTVTSP VLCNNNISEG EGYVESPDLG
SPVSRTLGLL DCTYSIHVYP GYGIEIQVQT LNLSQEEELL VLAGGGSPGL APRLLANSSM
LGEGQVLRSP TNRLLLHFQS PRVPRGGGFR IHYQAYLLSC GFPPRPAHGD VSVTDLHPGG
TATFHCDSGY QLQGEETLIC LNGTRPSWNG ETPSCMASCG GTIHNATLGR IVSPEPGGAV
GPNLTCRWVI EAAEGRRLHL HFERVSLDED NDRLMVRSGG SPLSPVIYDS DMDDVPERGL
ISDAQSLYVE LLSETPANPL LLSLRFEAFE EDRCFAPFLA HGNVTTTDPE YRPGALATFS
CLPGYALEPP GPPNAIECVD PTEPHWNDTE PACKAMCGGE LSEPAGVVLS PDWPQSYSPG
QDCVWGVHVQ EEKRILLQVE ILNVREGDML TLFDGDGPSA RVLAQLRGPQ PRRRLLSSGP
DLTLQFQAPP GPPNPGLGQG FVLHFKEVPR NDTCPELPPP EWGWRTASHG DLIRGTVLTY
QCEPGYELLG SDILTCQWDL SWSAAPPACQ KIMTCADPGE IANGHRTASD AGFPVGSHVQ
YRCLPGYSLE GAAMLTCYSR DTGTPKWSDR VPKCALKYEP CLNPGVPENG YQTLYKHHYQ
AGESLRFFCY EGFELIGEVT ITCVPGHPSQ WTSQPPLCKV AYEELLDNRK LEVTQTTDPS
RQLEGGNLAL AILLPLGLVI VLGSGVYIYY TKLQGKSLFG FSGSHSYSPI TVESDFSNPL
YEAGDTREYE VSI*

mutated AA sequence

N/A

speed

0.53 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

Problems