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: ENST00000404234
Querying Taster for transcript #2: ENST00000360929
Querying Taster for transcript #3: ENST00000248933
Querying Taster for transcript #4: ENST00000343706
Querying Taster for transcript #5: ENST00000403121
Querying Taster for transcript #6: ENST00000402979
Querying Taster for transcript #7: ENST00000529632
MT speed 0 s - this script 4.432431 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
SEZ6L	polymorphism_automatic	5.00290169802575e-06	simple_aae				M203I	single base exchange	rs663048		show file
SEZ6L	polymorphism_automatic	5.00290169802575e-06	simple_aae				M203I	single base exchange	rs663048		show file
SEZ6L	polymorphism_automatic	8.30778290294987e-06	simple_aae				M430I	single base exchange	rs663048		show file
SEZ6L	polymorphism_automatic	8.30778290294987e-06	simple_aae				M430I	single base exchange	rs663048		show file
SEZ6L	polymorphism_automatic	8.30778290294987e-06	simple_aae				M430I	single base exchange	rs663048		show file
SEZ6L	polymorphism_automatic	8.30778290294987e-06	simple_aae				M430I	single base exchange	rs663048		show file
SEZ6L	polymorphism_automatic	3.1352251027017e-05	simple_aae				M430I	single base exchange	rs663048		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999994997098302 (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)

chr22:26695077G>TN/A show variant in all transcripts IGV

HGNC symbol

SEZ6L

Ensembl transcript ID

ENST00000403121

Genbank transcript ID

N/A

UniProt peptide

Q9BYH1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.609G>T
cDNA.1351G>T
g.129638G>T

AA changes

M203I Score: 10 explain score(s)

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

203

frameshift

known variant

Reference ID: rs663048

database	homozygous (T/T)	heterozygous	allele carriers
1000G	134	673	807
ExAC	2645	18177	20822

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.351	0.028
	0.098	0.085
(flanking)	3.459	0.996

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	129640	wt: 0.9806 / mu: 0.9887 (marginal change - not scored)	wt: GATGCTGACATGCAT mu: GATTCTGACATGCAT	TGCT\|gaca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

203

mutated

all conserved

203

Ptroglodytes

all identical

ENSPTRG00000014192

430

Mmulatta

all identical

ENSMMUG00000016052

153

Fcatus

not conserved

ENSFCAG00000010712

389

Mmusculus

not conserved

ENSMUSG00000058153

370

Ggallus

all identical

ENSGALG00000005577

305

Trubripes

not conserved

ENSTRUG00000018614

163

Drerio

not conserved

ENSDARG00000076028

337

Dmelanogaster

no alignment

FBgn0001083

n/a

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000004211

327

protein features

start (aa)	end (aa)	feature	details
29	958	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2163 / 2163

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

721 / 721

position of stopcodon in wt / mu cDNA

2905 / 2905

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

743 / 743

chromosome

strand

last intron/exon boundary

2876

theoretical NMD boundary in CDS

2083

length of CDS

2163

coding sequence (CDS) position

609

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

1351

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

129638

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

26695077

original gDNA sequence snippet

GAGCTCCAGGGCGCTAAGATGCTGACATGCATCAATGCCTC

altered gDNA sequence snippet

GAGCTCCAGGGCGCTAAGATTCTGACATGCATCAATGCCTC

original cDNA sequence snippet

GAGCTCCAGGGCGCTAAGATGCTGACATGCATCAATGCCTC

altered cDNA sequence snippet

GAGCTCCAGGGCGCTAAGATTCTGACATGCATCAATGCCTC

wildtype AA sequence

MAQEAPQEDT SPMALMDKGE NELTGSASEE SQETTTSTII TTTVITTEQA PALCSVSFSN
PEGYIDSSDY PLLPLNNFLE CTYNVTVYTG YGVELQVKSV NLSDGELLSI RGVDGPTLTV
LANQTLLVEG QVIRSPTNTI SVYFRTFQDD GLGTFQLHYQ AFMLSCNFPR RPDSGDVTVM
DLHSGGVAHF HCHLGYELQG AKMLTCINAS KPHWSSQEPI CSAPCGGAVH NATIGRVLSP
SYPENTNGSQ FCIWTIEAPE GQKLHLHFER LLLHDKDRMT VHSGQTNKSA LLYDSLQTES
VPFEGLLSEG NTIRIEFTSD QARAASTFNI RFEAFEKGHC YEPYIQNGNF TTSDPTYNIG
TIVEFTCDPG HSLEQGPAII ECINVRDPYW NDTEPLCRAM CGGELSAVAG VVLSPNWPEP
YVEGEDCIWK IHVGEEKRIF LDIQFLNLSN SDILTIYDGD EVMPHILGQY LGNSGPQKLY
SSTPDLTIQF HSDPAGLIFG KGQGFIMNYI EVSRNDSCSD LPEIQNGWKT TSHTELVRGA
RITYQCDPGY DIVGSDTLTC QWDLSWSSDP PFCEKIMYCT DPGEVDHSTR LISDPVLLVG
TTIQYTCNPG FVLEGSSLLT CYSRETGTPI WTSRLPHCVS EAAAETSLEG GNMALAIFIP
VLIISLLLGG AYIYITRCRY YSNLRLPLMY SHPYSQITVE TEFDNPIYET GETREYEVSI
*

mutated AA sequence

MAQEAPQEDT SPMALMDKGE NELTGSASEE SQETTTSTII TTTVITTEQA PALCSVSFSN
PEGYIDSSDY PLLPLNNFLE CTYNVTVYTG YGVELQVKSV NLSDGELLSI RGVDGPTLTV
LANQTLLVEG QVIRSPTNTI SVYFRTFQDD GLGTFQLHYQ AFMLSCNFPR RPDSGDVTVM
DLHSGGVAHF HCHLGYELQG AKILTCINAS KPHWSSQEPI CSAPCGGAVH NATIGRVLSP
SYPENTNGSQ FCIWTIEAPE GQKLHLHFER LLLHDKDRMT VHSGQTNKSA LLYDSLQTES
VPFEGLLSEG NTIRIEFTSD QARAASTFNI RFEAFEKGHC YEPYIQNGNF TTSDPTYNIG
TIVEFTCDPG HSLEQGPAII ECINVRDPYW NDTEPLCRAM CGGELSAVAG VVLSPNWPEP
YVEGEDCIWK IHVGEEKRIF LDIQFLNLSN SDILTIYDGD EVMPHILGQY LGNSGPQKLY
SSTPDLTIQF HSDPAGLIFG KGQGFIMNYI EVSRNDSCSD LPEIQNGWKT TSHTELVRGA
RITYQCDPGY DIVGSDTLTC QWDLSWSSDP PFCEKIMYCT DPGEVDHSTR LISDPVLLVG
TTIQYTCNPG FVLEGSSLLT CYSRETGTPI WTSRLPHCVS EAAAETSLEG GNMALAIFIP
VLIISLLLGG AYIYITRCRY YSNLRLPLMY SHPYSQITVE TEFDNPIYET GETREYEVSI
*

speed

0.48 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: 0.999994997098302 (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)

chr22:26695077G>TN/A show variant in all transcripts IGV

HGNC symbol

SEZ6L

Ensembl transcript ID

ENST00000402979

Genbank transcript ID

N/A

UniProt peptide

Q9BYH1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.609G>T
cDNA.1351G>T
g.129638G>T

AA changes

M203I Score: 10 explain score(s)

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

203

frameshift

known variant

Reference ID: rs663048

database	homozygous (T/T)	heterozygous	allele carriers
1000G	134	673	807
ExAC	2645	18177	20822

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.351	0.028
	0.098	0.085
(flanking)	3.459	0.996

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	129640	wt: 0.9806 / mu: 0.9887 (marginal change - not scored)	wt: GATGCTGACATGCAT mu: GATTCTGACATGCAT	TGCT\|gaca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

203

mutated

all conserved

203

Ptroglodytes

all identical

ENSPTRG00000014192

430

Mmulatta

all identical

ENSMMUG00000016052

153

Fcatus

not conserved

ENSFCAG00000010712

389

Mmusculus

not conserved

ENSMUSG00000058153

370

Ggallus

all identical

ENSGALG00000005577

305

Trubripes

not conserved

ENSTRUG00000018614

163

Drerio

not conserved

ENSDARG00000076028

337

Dmelanogaster

no alignment

FBgn0001083

n/a

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000004211

327

protein features

start (aa)	end (aa)	feature	details
29	958	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2391 / 2391

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

797 / 797

position of stopcodon in wt / mu cDNA

3133 / 3133

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

743 / 743

chromosome

strand

last intron/exon boundary

3104

theoretical NMD boundary in CDS

2311

length of CDS

2391

coding sequence (CDS) position

609

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

1351

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

129638

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

26695077

original gDNA sequence snippet

GAGCTCCAGGGCGCTAAGATGCTGACATGCATCAATGCCTC

altered gDNA sequence snippet

GAGCTCCAGGGCGCTAAGATTCTGACATGCATCAATGCCTC

original cDNA sequence snippet

GAGCTCCAGGGCGCTAAGATGCTGACATGCATCAATGCCTC

altered cDNA sequence snippet

GAGCTCCAGGGCGCTAAGATTCTGACATGCATCAATGCCTC

wildtype AA sequence

MAQEAPQEDT SPMALMDKGE NELTGSASEE SQETTTSTII TTTVITTEQA PALCSVSFSN
PEGYIDSSDY PLLPLNNFLE CTYNVTVYTG YGVELQVKSV NLSDGELLSI RGVDGPTLTV
LANQTLLVEG QVIRSPTNTI SVYFRTFQDD GLGTFQLHYQ AFMLSCNFPR RPDSGDVTVM
DLHSGGVAHF HCHLGYELQG AKMLTCINAS KPHWSSQEPI CSAPCGGAVH NATIGRVLSP
SYPENTNGSQ FCIWTIEAPE GQKLHLHFER LLLHDKDRMT VHSGQTNKSA LLYDSLQTES
VPFEGLLSEG NTIRIEFTSD QARAASTFNI RFEAFEKGHC YEPYIQNGNF TTSDPTYNIG
TIVEFTCDPG HSLEQGPAII ECINVRDPYW NDTEPLCRAM CGGELSAVAG VVLSPNWPEP
YVEGEDCIWK IHVGEEKRIF LDIQFLNLSN SDILTIYDGD EVMPHILGQY LGNSGPQKLY
SSTPDLTIQF HSDPAGLIFG KGQGFIMNYI EVSRNDSCSD LPEIQNGWKT TSHTELVRGA
RITYQCDPGY DIVGSDTLTC QWDLSWSSDP PFCEKIMYCT DPGEVDHSTR LISDPVLLVG
TTIQYTCNPG FVLEGSSLLT CYSRETGTPI WTSRLPHCVS EESLACDNPG LPENGYQILY
KRLYLPGESL TFMCYEGFEL MGEVTIRCIL GQPSHWNGPL PVCKVNQDSF EHALEAEAAA
ETSLEGGNMA LAIFIPVLII SLLLGGAYIY ITRCRYYSNL RLPLMYSHPY SQITVETEFD
NPIYETGETR EYEVSI*

mutated AA sequence

MAQEAPQEDT SPMALMDKGE NELTGSASEE SQETTTSTII TTTVITTEQA PALCSVSFSN
PEGYIDSSDY PLLPLNNFLE CTYNVTVYTG YGVELQVKSV NLSDGELLSI RGVDGPTLTV
LANQTLLVEG QVIRSPTNTI SVYFRTFQDD GLGTFQLHYQ AFMLSCNFPR RPDSGDVTVM
DLHSGGVAHF HCHLGYELQG AKILTCINAS KPHWSSQEPI CSAPCGGAVH NATIGRVLSP
SYPENTNGSQ FCIWTIEAPE GQKLHLHFER LLLHDKDRMT VHSGQTNKSA LLYDSLQTES
VPFEGLLSEG NTIRIEFTSD QARAASTFNI RFEAFEKGHC YEPYIQNGNF TTSDPTYNIG
TIVEFTCDPG HSLEQGPAII ECINVRDPYW NDTEPLCRAM CGGELSAVAG VVLSPNWPEP
YVEGEDCIWK IHVGEEKRIF LDIQFLNLSN SDILTIYDGD EVMPHILGQY LGNSGPQKLY
SSTPDLTIQF HSDPAGLIFG KGQGFIMNYI EVSRNDSCSD LPEIQNGWKT TSHTELVRGA
RITYQCDPGY DIVGSDTLTC QWDLSWSSDP PFCEKIMYCT DPGEVDHSTR LISDPVLLVG
TTIQYTCNPG FVLEGSSLLT CYSRETGTPI WTSRLPHCVS EESLACDNPG LPENGYQILY
KRLYLPGESL TFMCYEGFEL MGEVTIRCIL GQPSHWNGPL PVCKVNQDSF EHALEAEAAA
ETSLEGGNMA LAIFIPVLII SLLLGGAYIY ITRCRYYSNL RLPLMYSHPY SQITVETEFD
NPIYETGETR EYEVSI*

speed

0.46 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999991692217097 (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)

chr22:26695077G>TN/A show variant in all transcripts IGV

HGNC symbol

SEZ6L

Ensembl transcript ID

ENST00000404234

Genbank transcript ID

NM_001184773

UniProt peptide

Q9BYH1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1290G>T
cDNA.1486G>T
g.129638G>T

AA changes

M430I Score: 10 explain score(s)

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

430

frameshift

known variant

Reference ID: rs663048

database	homozygous (T/T)	heterozygous	allele carriers
1000G	134	673	807
ExAC	2645	18177	20822

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.351	0.028
	0.098	0.085
(flanking)	3.459	0.996

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	129640	wt: 0.9806 / mu: 0.9887 (marginal change - not scored)	wt: GATGCTGACATGCAT mu: GATTCTGACATGCAT	TGCT\|gaca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

430

mutated

all conserved

430

Ptroglodytes

all identical

ENSPTRG00000014192

430

Mmulatta

all identical

ENSMMUG00000016052

153

Fcatus

not conserved

ENSFCAG00000010712

389

Mmusculus

not conserved

ENSMUSG00000058153

370

Ggallus

all identical

ENSGALG00000005577

305

Trubripes

not conserved

ENSTRUG00000018614

163

Drerio

not conserved

ENSDARG00000076028

337

Dmelanogaster

no alignment

FBgn0001083

n/a

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000004211

327

protein features

start (aa)	end (aa)	feature	details
29	958	TOPO_DOM	Extracellular (Potential).	lost
391	450	DOMAIN	Sushi 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3072 / 3072

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

1024 / 1024

position of stopcodon in wt / mu cDNA

3268 / 3268

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

strand

last intron/exon boundary

3239

theoretical NMD boundary in CDS

2992

length of CDS

3072

coding sequence (CDS) position

1290

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

1486

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

129638

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

26695077

original gDNA sequence snippet

GAGCTCCAGGGCGCTAAGATGCTGACATGCATCAATGCCTC

altered gDNA sequence snippet

GAGCTCCAGGGCGCTAAGATTCTGACATGCATCAATGCCTC

original cDNA sequence snippet

GAGCTCCAGGGCGCTAAGATGCTGACATGCATCAATGCCTC

altered cDNA sequence snippet

GAGCTCCAGGGCGCTAAGATTCTGACATGCATCAATGCCTC

wildtype AA sequence

MPAARPPAAG LRGISLFLAL LLGSPAAALE RDALPEGDAS PLGPYLLPSG APERGSPGKE
HPEERVVTAP PSSSQSAEVL GELVLDGTAP SAHHDIPALS PLLPEEARPK HALPPKKKLP
SLKQVNSARK QLRPKATSAA TVQRAGSQPA SQGLDLLSSS TEKPGPPGDP DPIVASEEAS
EVPLWLDRKE SAVPTTPAPL QISPFTSQPY VAHTLPQRPE PGEPGPDMAQ EAPQEDTSPM
ALMDKGENEL TGSASEESQE TTTSTIITTT VITTEQAPAL CSVSFSNPEG YIDSSDYPLL
PLNNFLECTY NVTVYTGYGV ELQVKSVNLS DGELLSIRGV DGPTLTVLAN QTLLVEGQVI
RSPTNTISVY FRTFQDDGLG TFQLHYQAFM LSCNFPRRPD SGDVTVMDLH SGGVAHFHCH
LGYELQGAKM LTCINASKPH WSSQEPICSA PCGGAVHNAT IGRVLSPSYP ENTNGSQFCI
WTIEAPEGQK LHLHFERLLL HDKDRMTVHS GQTNKSALLY DSLQTESVPF EGLLSEGNTI
RIEFTSDQAR AASTFNIRFE AFEKGHCYEP YIQNGNFTTS DPTYNIGTIV EFTCDPGHSL
EQGPAIIECI NVRDPYWNDT EPLCRAMCGG ELSAVAGVVL SPNWPEPYVE GEDCIWKIHV
GEEKRIFLDI QFLNLSNSDI LTIYDGDEVM PHILGQYLGN SGPQKLYSST PDLTIQFHSD
PAGLIFGKGQ GFIMNYIEVS RNDSCSDLPE IQNGWKTTSH TELVRGARIT YQCDPGYDIV
GSDTLTCQWD LSWSSDPPFC EKIMYCTDPG EVDHSTRLIS DPVLLVGTTI QYTCNPGFVL
EGSSLLTCYS RETGTPIWTS RLPHCVSEES LACDNPGLPE NGYQILYKRL YLPGESLTFM
CYEGFELMGE VTIRCILGQP SHWNGPLPVC KVNQDSFEHA LEAEAAAETS LEGGNMALAI
FIPVLIISLL LGGAYIYITR CRYYSNLRLP LMYSHPYSQI TVETEFDNPI YETGETREYE
VSI*

mutated AA sequence

MPAARPPAAG LRGISLFLAL LLGSPAAALE RDALPEGDAS PLGPYLLPSG APERGSPGKE
HPEERVVTAP PSSSQSAEVL GELVLDGTAP SAHHDIPALS PLLPEEARPK HALPPKKKLP
SLKQVNSARK QLRPKATSAA TVQRAGSQPA SQGLDLLSSS TEKPGPPGDP DPIVASEEAS
EVPLWLDRKE SAVPTTPAPL QISPFTSQPY VAHTLPQRPE PGEPGPDMAQ EAPQEDTSPM
ALMDKGENEL TGSASEESQE TTTSTIITTT VITTEQAPAL CSVSFSNPEG YIDSSDYPLL
PLNNFLECTY NVTVYTGYGV ELQVKSVNLS DGELLSIRGV DGPTLTVLAN QTLLVEGQVI
RSPTNTISVY FRTFQDDGLG TFQLHYQAFM LSCNFPRRPD SGDVTVMDLH SGGVAHFHCH
LGYELQGAKI LTCINASKPH WSSQEPICSA PCGGAVHNAT IGRVLSPSYP ENTNGSQFCI
WTIEAPEGQK LHLHFERLLL HDKDRMTVHS GQTNKSALLY DSLQTESVPF EGLLSEGNTI
RIEFTSDQAR AASTFNIRFE AFEKGHCYEP YIQNGNFTTS DPTYNIGTIV EFTCDPGHSL
EQGPAIIECI NVRDPYWNDT EPLCRAMCGG ELSAVAGVVL SPNWPEPYVE GEDCIWKIHV
GEEKRIFLDI QFLNLSNSDI LTIYDGDEVM PHILGQYLGN SGPQKLYSST PDLTIQFHSD
PAGLIFGKGQ GFIMNYIEVS RNDSCSDLPE IQNGWKTTSH TELVRGARIT YQCDPGYDIV
GSDTLTCQWD LSWSSDPPFC EKIMYCTDPG EVDHSTRLIS DPVLLVGTTI QYTCNPGFVL
EGSSLLTCYS RETGTPIWTS RLPHCVSEES LACDNPGLPE NGYQILYKRL YLPGESLTFM
CYEGFELMGE VTIRCILGQP SHWNGPLPVC KVNQDSFEHA LEAEAAAETS LEGGNMALAI
FIPVLIISLL LGGAYIYITR CRYYSNLRLP LMYSHPYSQI TVETEFDNPI YETGETREYE
VSI*

speed

0.52 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999991692217097 (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)

chr22:26695077G>TN/A show variant in all transcripts IGV

HGNC symbol

SEZ6L

Ensembl transcript ID

ENST00000248933

Genbank transcript ID

NM_021115

UniProt peptide

Q9BYH1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1290G>T
cDNA.1385G>T
g.129638G>T

AA changes

M430I Score: 10 explain score(s)

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

430

frameshift

known variant

Reference ID: rs663048

database	homozygous (T/T)	heterozygous	allele carriers
1000G	134	673	807
ExAC	2645	18177	20822

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.351	0.028
	0.098	0.085
(flanking)	3.459	0.996

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	129640	wt: 0.9806 / mu: 0.9887 (marginal change - not scored)	wt: GATGCTGACATGCAT mu: GATTCTGACATGCAT	TGCT\|gaca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

430

mutated

all conserved

430

Ptroglodytes

all identical

ENSPTRG00000014192

430

Mmulatta

all identical

ENSMMUG00000016052

153

Fcatus

not conserved

ENSFCAG00000010712

389

Mmusculus

not conserved

ENSMUSG00000058153

370

Ggallus

all identical

ENSGALG00000005577

305

Trubripes

not conserved

ENSTRUG00000018614

163

Drerio

not conserved

ENSDARG00000076028

337

Dmelanogaster

no alignment

FBgn0001083

n/a

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000004211

327

protein features

start (aa)	end (aa)	feature	details
29	958	TOPO_DOM	Extracellular (Potential).	lost
391	450	DOMAIN	Sushi 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3075 / 3075

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

1025 / 1025

position of stopcodon in wt / mu cDNA

3170 / 3170

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

96 / 96

chromosome

strand

last intron/exon boundary

3141

theoretical NMD boundary in CDS

2995

length of CDS

3075

coding sequence (CDS) position

1290

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

1385

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

129638

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

26695077

original gDNA sequence snippet

GAGCTCCAGGGCGCTAAGATGCTGACATGCATCAATGCCTC

altered gDNA sequence snippet

GAGCTCCAGGGCGCTAAGATTCTGACATGCATCAATGCCTC

original cDNA sequence snippet

GAGCTCCAGGGCGCTAAGATGCTGACATGCATCAATGCCTC

altered cDNA sequence snippet

GAGCTCCAGGGCGCTAAGATTCTGACATGCATCAATGCCTC

wildtype AA sequence

MPAARPPAAG LRGISLFLAL LLGSPAAALE RDALPEGDAS PLGPYLLPSG APERGSPGKE
HPEERVVTAP PSSSQSAEVL GELVLDGTAP SAHHDIPALS PLLPEEARPK HALPPKKKLP
SLKQVNSARK QLRPKATSAA TVQRAGSQPA SQGLDLLSSS TEKPGPPGDP DPIVASEEAS
EVPLWLDRKE SAVPTTPAPL QISPFTSQPY VAHTLPQRPE PGEPGPDMAQ EAPQEDTSPM
ALMDKGENEL TGSASEESQE TTTSTIITTT VITTEQAPAL CSVSFSNPEG YIDSSDYPLL
PLNNFLECTY NVTVYTGYGV ELQVKSVNLS DGELLSIRGV DGPTLTVLAN QTLLVEGQVI
RSPTNTISVY FRTFQDDGLG TFQLHYQAFM LSCNFPRRPD SGDVTVMDLH SGGVAHFHCH
LGYELQGAKM LTCINASKPH WSSQEPICSA PCGGAVHNAT IGRVLSPSYP ENTNGSQFCI
WTIEAPEGQK LHLHFERLLL HDKDRMTVHS GQTNKSALLY DSLQTESVPF EGLLSEGNTI
RIEFTSDQAR AASTFNIRFE AFEKGHCYEP YIQNGNFTTS DPTYNIGTIV EFTCDPGHSL
EQGPAIIECI NVRDPYWNDT EPLCRAMCGG ELSAVAGVVL SPNWPEPYVE GEDCIWKIHV
GEEKRIFLDI QFLNLSNSDI LTIYDGDEVM PHILGQYLGN SGPQKLYSST PDLTIQFHSD
PAGLIFGKGQ GFIMNYIEVS RNDSCSDLPE IQNGWKTTSH TELVRGARIT YQCDPGYDIV
GSDTLTCQWD LSWSSDPPFC EKIMYCTDPG EVDHSTRLIS DPVLLVGTTI QYTCNPGFVL
EGSSLLTCYS RETGTPIWTS RLPHCVSEES LACDNPGLPE NGYQILYKRL YLPGESLTFM
CYEGFELMGE VTIRCILGQP SHWNGPLPVC KVNQDSFEHA LEVAEAAAET SLEGGNMALA
IFIPVLIISL LLGGAYIYIT RCRYYSNLRL PLMYSHPYSQ ITVETEFDNP IYETGETREY
EVSI*

mutated AA sequence

MPAARPPAAG LRGISLFLAL LLGSPAAALE RDALPEGDAS PLGPYLLPSG APERGSPGKE
HPEERVVTAP PSSSQSAEVL GELVLDGTAP SAHHDIPALS PLLPEEARPK HALPPKKKLP
SLKQVNSARK QLRPKATSAA TVQRAGSQPA SQGLDLLSSS TEKPGPPGDP DPIVASEEAS
EVPLWLDRKE SAVPTTPAPL QISPFTSQPY VAHTLPQRPE PGEPGPDMAQ EAPQEDTSPM
ALMDKGENEL TGSASEESQE TTTSTIITTT VITTEQAPAL CSVSFSNPEG YIDSSDYPLL
PLNNFLECTY NVTVYTGYGV ELQVKSVNLS DGELLSIRGV DGPTLTVLAN QTLLVEGQVI
RSPTNTISVY FRTFQDDGLG TFQLHYQAFM LSCNFPRRPD SGDVTVMDLH SGGVAHFHCH
LGYELQGAKI LTCINASKPH WSSQEPICSA PCGGAVHNAT IGRVLSPSYP ENTNGSQFCI
WTIEAPEGQK LHLHFERLLL HDKDRMTVHS GQTNKSALLY DSLQTESVPF EGLLSEGNTI
RIEFTSDQAR AASTFNIRFE AFEKGHCYEP YIQNGNFTTS DPTYNIGTIV EFTCDPGHSL
EQGPAIIECI NVRDPYWNDT EPLCRAMCGG ELSAVAGVVL SPNWPEPYVE GEDCIWKIHV
GEEKRIFLDI QFLNLSNSDI LTIYDGDEVM PHILGQYLGN SGPQKLYSST PDLTIQFHSD
PAGLIFGKGQ GFIMNYIEVS RNDSCSDLPE IQNGWKTTSH TELVRGARIT YQCDPGYDIV
GSDTLTCQWD LSWSSDPPFC EKIMYCTDPG EVDHSTRLIS DPVLLVGTTI QYTCNPGFVL
EGSSLLTCYS RETGTPIWTS RLPHCVSEES LACDNPGLPE NGYQILYKRL YLPGESLTFM
CYEGFELMGE VTIRCILGQP SHWNGPLPVC KVNQDSFEHA LEVAEAAAET SLEGGNMALA
IFIPVLIISL LLGGAYIYIT RCRYYSNLRL PLMYSHPYSQ ITVETEFDNP IYETGETREY
EVSI*

speed

0.96 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999991692217097 (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)

chr22:26695077G>TN/A show variant in all transcripts IGV

HGNC symbol

SEZ6L

Ensembl transcript ID

ENST00000343706

Genbank transcript ID

NM_001184777

UniProt peptide

Q9BYH1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1290G>T
cDNA.1302G>T
g.129638G>T

AA changes

M430I Score: 10 explain score(s)

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

430

frameshift

known variant

Reference ID: rs663048

database	homozygous (T/T)	heterozygous	allele carriers
1000G	134	673	807
ExAC	2645	18177	20822

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.351	0.028
	0.098	0.085
(flanking)	3.459	0.996

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	129640	wt: 0.9806 / mu: 0.9887 (marginal change - not scored)	wt: GATGCTGACATGCAT mu: GATTCTGACATGCAT	TGCT\|gaca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

430

mutated

all conserved

430

Ptroglodytes

all identical

ENSPTRG00000014192

430

Mmulatta

all identical

ENSMMUG00000016052

153

Fcatus

not conserved

ENSFCAG00000010712

389

Mmusculus

not conserved

ENSMUSG00000058153

370

Ggallus

all identical

ENSGALG00000005577

305

Trubripes

not conserved

ENSTRUG00000018614

163

Drerio

not conserved

ENSDARG00000076028

337

Dmelanogaster

no alignment

FBgn0001083

n/a

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000004211

327

protein features

start (aa)	end (aa)	feature	details
29	958	TOPO_DOM	Extracellular (Potential).	lost
391	450	DOMAIN	Sushi 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2847 / 2847

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

949 / 949

position of stopcodon in wt / mu cDNA

2859 / 2859

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

13 / 13

chromosome

strand

last intron/exon boundary

2830

theoretical NMD boundary in CDS

2767

length of CDS

2847

coding sequence (CDS) position

1290

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

1302

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

129638

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

26695077

original gDNA sequence snippet

GAGCTCCAGGGCGCTAAGATGCTGACATGCATCAATGCCTC

altered gDNA sequence snippet

GAGCTCCAGGGCGCTAAGATTCTGACATGCATCAATGCCTC

original cDNA sequence snippet

GAGCTCCAGGGCGCTAAGATGCTGACATGCATCAATGCCTC

altered cDNA sequence snippet

GAGCTCCAGGGCGCTAAGATTCTGACATGCATCAATGCCTC

wildtype AA sequence

MPAARPPAAG LRGISLFLAL LLGSPAAALE RDALPEGDAS PLGPYLLPSG APERGSPGKE
HPEERVVTAP PSSSQSAEVL GELVLDGTAP SAHHDIPALS PLLPEEARPK HALPPKKKLP
SLKQVNSARK QLRPKATSAA TVQRAGSQPA SQGLDLLSSS TEKPGPPGDP DPIVASEEAS
EVPLWLDRKE SAVPTTPAPL QISPFTSQPY VAHTLPQRPE PGEPGPDMAQ EAPQEDTSPM
ALMDKGENEL TGSASEESQE TTTSTIITTT VITTEQAPAL CSVSFSNPEG YIDSSDYPLL
PLNNFLECTY NVTVYTGYGV ELQVKSVNLS DGELLSIRGV DGPTLTVLAN QTLLVEGQVI
RSPTNTISVY FRTFQDDGLG TFQLHYQAFM LSCNFPRRPD SGDVTVMDLH SGGVAHFHCH
LGYELQGAKM LTCINASKPH WSSQEPICSA PCGGAVHNAT IGRVLSPSYP ENTNGSQFCI
WTIEAPEGQK LHLHFERLLL HDKDRMTVHS GQTNKSALLY DSLQTESVPF EGLLSEGNTI
RIEFTSDQAR AASTFNIRFE AFEKGHCYEP YIQNGNFTTS DPTYNIGTIV EFTCDPGHSL
EQGPAIIECI NVRDPYWNDT EPLCRAMCGG ELSAVAGVVL SPNWPEPYVE GEDCIWKIHV
GEEKRIFLDI QFLNLSNSDI LTIYDGDEVM PHILGQYLGN SGPQKLYSST PDLTIQFHSD
PAGLIFGKGQ GFIMNYIEVS RNDSCSDLPE IQNGWKTTSH TELVRGARIT YQCDPGYDIV
GSDTLTCQWD LSWSSDPPFC EKIMYCTDPG EVDHSTRLIS DPVLLVGTTI QYTCNPGFVL
EGSSLLTCYS RETGTPIWTS RLPHCVLAEA AAETSLEGGN MALAIFIPVL IISLLLGGAY
IYITRCRYYS NLRLPLMYSH PYSQITVETE FDNPIYETGE TREYEVSI*

mutated AA sequence

MPAARPPAAG LRGISLFLAL LLGSPAAALE RDALPEGDAS PLGPYLLPSG APERGSPGKE
HPEERVVTAP PSSSQSAEVL GELVLDGTAP SAHHDIPALS PLLPEEARPK HALPPKKKLP
SLKQVNSARK QLRPKATSAA TVQRAGSQPA SQGLDLLSSS TEKPGPPGDP DPIVASEEAS
EVPLWLDRKE SAVPTTPAPL QISPFTSQPY VAHTLPQRPE PGEPGPDMAQ EAPQEDTSPM
ALMDKGENEL TGSASEESQE TTTSTIITTT VITTEQAPAL CSVSFSNPEG YIDSSDYPLL
PLNNFLECTY NVTVYTGYGV ELQVKSVNLS DGELLSIRGV DGPTLTVLAN QTLLVEGQVI
RSPTNTISVY FRTFQDDGLG TFQLHYQAFM LSCNFPRRPD SGDVTVMDLH SGGVAHFHCH
LGYELQGAKI LTCINASKPH WSSQEPICSA PCGGAVHNAT IGRVLSPSYP ENTNGSQFCI
WTIEAPEGQK LHLHFERLLL HDKDRMTVHS GQTNKSALLY DSLQTESVPF EGLLSEGNTI
RIEFTSDQAR AASTFNIRFE AFEKGHCYEP YIQNGNFTTS DPTYNIGTIV EFTCDPGHSL
EQGPAIIECI NVRDPYWNDT EPLCRAMCGG ELSAVAGVVL SPNWPEPYVE GEDCIWKIHV
GEEKRIFLDI QFLNLSNSDI LTIYDGDEVM PHILGQYLGN SGPQKLYSST PDLTIQFHSD
PAGLIFGKGQ GFIMNYIEVS RNDSCSDLPE IQNGWKTTSH TELVRGARIT YQCDPGYDIV
GSDTLTCQWD LSWSSDPPFC EKIMYCTDPG EVDHSTRLIS DPVLLVGTTI QYTCNPGFVL
EGSSLLTCYS RETGTPIWTS RLPHCVLAEA AAETSLEGGN MALAIFIPVL IISLLLGGAY
IYITRCRYYS NLRLPLMYSH PYSQITVETE FDNPIYETGE TREYEVSI*

speed

0.49 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999991692217097 (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)

chr22:26695077G>TN/A show variant in all transcripts IGV

HGNC symbol

SEZ6L

Ensembl transcript ID

ENST00000529632

Genbank transcript ID

NM_001184774

UniProt peptide

Q9BYH1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1290G>T
cDNA.1486G>T
g.129638G>T

AA changes

M430I Score: 10 explain score(s)

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

430

frameshift

known variant

Reference ID: rs663048

database	homozygous (T/T)	heterozygous	allele carriers
1000G	134	673	807
ExAC	2645	18177	20822

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.351	0.028
	0.098	0.085
(flanking)	3.459	0.996

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	129640	wt: 0.9806 / mu: 0.9887 (marginal change - not scored)	wt: GATGCTGACATGCAT mu: GATTCTGACATGCAT	TGCT\|gaca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

430

mutated

all conserved

430

Ptroglodytes

all identical

ENSPTRG00000014192

430

Mmulatta

all identical

ENSMMUG00000016052

153

Fcatus

not conserved

ENSFCAG00000010712

389

Mmusculus

not conserved

ENSMUSG00000058153

370

Ggallus

all identical

ENSGALG00000005577

305

Trubripes

not conserved

ENSTRUG00000018614

163

Drerio

not conserved

ENSDARG00000076028

337

Dmelanogaster

no alignment

FBgn0001083

n/a

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000004211

327

protein features

start (aa)	end (aa)	feature	details
29	958	TOPO_DOM	Extracellular (Potential).	lost
391	450	DOMAIN	Sushi 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3042 / 3042

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

1014 / 1014

position of stopcodon in wt / mu cDNA

3238 / 3238

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

strand

last intron/exon boundary

3209

theoretical NMD boundary in CDS

2962

length of CDS

3042

coding sequence (CDS) position

1290

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

1486

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

129638

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

26695077

original gDNA sequence snippet

GAGCTCCAGGGCGCTAAGATGCTGACATGCATCAATGCCTC

altered gDNA sequence snippet

GAGCTCCAGGGCGCTAAGATTCTGACATGCATCAATGCCTC

original cDNA sequence snippet

GAGCTCCAGGGCGCTAAGATGCTGACATGCATCAATGCCTC

altered cDNA sequence snippet

GAGCTCCAGGGCGCTAAGATTCTGACATGCATCAATGCCTC

wildtype AA sequence

MPAARPPAAG LRGISLFLAL LLGSPAAALE RDALPEGDAS PLGPYLLPSG APERGSPGKE
HPEERVVTAP PSSSQSAEVL GELVLDGTAP SAHHDIPALS PLLPEEARPK HALPPKKKLP
SLKQVNSARK QLRPKATSAA TVQRAGSQPA SQGLDLLSSS TEKPGPPGDP DPIVASEEAS
EVPLWLDRKE SAVPTTPAPL QISPFTSQPY VAHTLPQRPE PGEPGPDMAQ EAPQEDTSPM
ALMDKGENEL TGSASEESQE TTTSTIITTT VITTEQAPAL CSVSFSNPEG YIDSSDYPLL
PLNNFLECTY NVTVYTGYGV ELQVKSVNLS DGELLSIRGV DGPTLTVLAN QTLLVEGQVI
RSPTNTISVY FRTFQDDGLG TFQLHYQAFM LSCNFPRRPD SGDVTVMDLH SGGVAHFHCH
LGYELQGAKM LTCINASKPH WSSQEPICSA PCGGAVHNAT IGRVLSPSYP ENTNGSQFCI
WTIEAPEGQK LHLHFERLLL HDKDRMTVHS GQTNKSALLY DSLQTESVPF EGLLSEGNTI
RIEFTSDQAR AASTFNIRFE AFEKGHCYEP YIQNGNFTTS DPTYNIGTIV EFTCDPGHSL
EQGPAIIECI NVRDPYWNDT EPLCRAMCGG ELSAVAGVVL SPNWPEPYVE GEDCIWKIHV
GEEKRIFLDI QFLNLSNSDI LTIYDGDEVM PHILGQYLGN SGPQKLYSST PDLTIQFHSD
PAGLIFGKGQ GFIMNYIEVS RNDSCSDLPE IQNGWKTTSH TELVRGARIT YQCDPGYDIV
GSDTLTCQWD LSWSSDPPFC EKIMYCTDPG EVDHSTRLIS DPVLLVGTTI QYTCNPGFVL
EGSSLLTCYS RETGTPIWTS RLPHCVSEES LACDNPGLPE NGYQILYKRL YLPGESLTFM
CYEGFELMGE VTIRCILGQP SHWNGPLPVC KVAEAAAETS LEGGNMALAI FIPVLIISLL
LGGAYIYITR CRYYSNLRLP LMYSHPYSQI TVETEFDNPI YETGETREYE VSI*

mutated AA sequence

MPAARPPAAG LRGISLFLAL LLGSPAAALE RDALPEGDAS PLGPYLLPSG APERGSPGKE
HPEERVVTAP PSSSQSAEVL GELVLDGTAP SAHHDIPALS PLLPEEARPK HALPPKKKLP
SLKQVNSARK QLRPKATSAA TVQRAGSQPA SQGLDLLSSS TEKPGPPGDP DPIVASEEAS
EVPLWLDRKE SAVPTTPAPL QISPFTSQPY VAHTLPQRPE PGEPGPDMAQ EAPQEDTSPM
ALMDKGENEL TGSASEESQE TTTSTIITTT VITTEQAPAL CSVSFSNPEG YIDSSDYPLL
PLNNFLECTY NVTVYTGYGV ELQVKSVNLS DGELLSIRGV DGPTLTVLAN QTLLVEGQVI
RSPTNTISVY FRTFQDDGLG TFQLHYQAFM LSCNFPRRPD SGDVTVMDLH SGGVAHFHCH
LGYELQGAKI LTCINASKPH WSSQEPICSA PCGGAVHNAT IGRVLSPSYP ENTNGSQFCI
WTIEAPEGQK LHLHFERLLL HDKDRMTVHS GQTNKSALLY DSLQTESVPF EGLLSEGNTI
RIEFTSDQAR AASTFNIRFE AFEKGHCYEP YIQNGNFTTS DPTYNIGTIV EFTCDPGHSL
EQGPAIIECI NVRDPYWNDT EPLCRAMCGG ELSAVAGVVL SPNWPEPYVE GEDCIWKIHV
GEEKRIFLDI QFLNLSNSDI LTIYDGDEVM PHILGQYLGN SGPQKLYSST PDLTIQFHSD
PAGLIFGKGQ GFIMNYIEVS RNDSCSDLPE IQNGWKTTSH TELVRGARIT YQCDPGYDIV
GSDTLTCQWD LSWSSDPPFC EKIMYCTDPG EVDHSTRLIS DPVLLVGTTI QYTCNPGFVL
EGSSLLTCYS RETGTPIWTS RLPHCVSEES LACDNPGLPE NGYQILYKRL YLPGESLTFM
CYEGFELMGE VTIRCILGQP SHWNGPLPVC KVAEAAAETS LEGGNMALAI FIPVLIISLL
LGGAYIYITR CRYYSNLRLP LMYSHPYSQI TVETEFDNPI YETGETREYE VSI*

speed

0.44 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999968647748973 (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)

chr22:26695077G>TN/A show variant in all transcripts IGV

HGNC symbol

SEZ6L

Ensembl transcript ID

ENST00000360929

Genbank transcript ID

NM_001184776

UniProt peptide

Q9BYH1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1290G>T
cDNA.1446G>T
g.129638G>T

AA changes

M430I Score: 10 explain score(s)

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

430

frameshift

known variant

Reference ID: rs663048

database	homozygous (T/T)	heterozygous	allele carriers
1000G	134	673	807
ExAC	2645	18177	20822

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.351	0.028
	0.098	0.085
(flanking)	3.459	0.996

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

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	129640	wt: 0.9806 / mu: 0.9887 (marginal change - not scored)	wt: GATGCTGACATGCAT mu: GATTCTGACATGCAT	TGCT\|gaca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

430

mutated

all conserved

430

Ptroglodytes

all identical

ENSPTRG00000014192

430

Mmulatta

all identical

ENSMMUG00000016052

153

Fcatus

not conserved

ENSFCAG00000010712

389

Mmusculus

not conserved

ENSMUSG00000058153

370

Ggallus

all identical

ENSGALG00000005577

305

Trubripes

not conserved

ENSTRUG00000018614

163

Drerio

not conserved

ENSDARG00000076028

337

Dmelanogaster

all conserved

FBgn0001083

562

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000004211

327

protein features

start (aa)	end (aa)	feature	details
29	958	TOPO_DOM	Extracellular (Potential).	lost
391	450	DOMAIN	Sushi 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2850 / 2850

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

950 / 950

position of stopcodon in wt / mu cDNA

3006 / 3006

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

157 / 157

chromosome

strand

last intron/exon boundary

2977

theoretical NMD boundary in CDS

2770

length of CDS

2850

coding sequence (CDS) position

1290

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

1446

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

129638

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

26695077

original gDNA sequence snippet

GAGCTCCAGGGCGCTAAGATGCTGACATGCATCAATGCCTC

altered gDNA sequence snippet

GAGCTCCAGGGCGCTAAGATTCTGACATGCATCAATGCCTC

original cDNA sequence snippet

GAGCTCCAGGGCGCTAAGATGCTGACATGCATCAATGCCTC

altered cDNA sequence snippet

GAGCTCCAGGGCGCTAAGATTCTGACATGCATCAATGCCTC

wildtype AA sequence

MPAARPPAAG LRGISLFLAL LLGSPAAALE RDALPEGDAS PLGPYLLPSG APERGSPGKE
HPEERVVTAP PSSSQSAEVL GELVLDGTAP SAHHDIPALS PLLPEEARPK HALPPKKKLP
SLKQVNSARK QLRPKATSAA TVQRAGSQPA SQGLDLLSSS TEKPGPPGDP DPIVASEEAS
EVPLWLDRKE SAVPTTPAPL QISPFTSQPY VAHTLPQRPE PGEPGPDMAQ EAPQEDTSPM
ALMDKGENEL TGSASEESQE TTTSTIITTT VITTEQAPAL CSVSFSNPEG YIDSSDYPLL
PLNNFLECTY NVTVYTGYGV ELQVKSVNLS DGELLSIRGV DGPTLTVLAN QTLLVEGQVI
RSPTNTISVY FRTFQDDGLG TFQLHYQAFM LSCNFPRRPD SGDVTVMDLH SGGVAHFHCH
LGYELQGAKM LTCINASKPH WSSQEPICSA PCGGAVHNAT IGRVLSPSYP ENTNGSQFCI
WTIEAPEGQK LHLHFERLLL HDKDRMTVHS GQTNKSALLY DSLQTESVPF EGLLSEGNTI
RIEFTSDQAR AASTFNIRFE AFEKGHCYEP YIQNGNFTTS DPTYNIGTIV EFTCDPGHSL
EQGPAIIECI NVRDPYWNDT EPLCRAMCGG ELSAVAGVVL SPNWPEPYVE GEDCIWKIHV
GEEKRIFLDI QFLNLSNSDI LTIYDGDEVM PHILGQYLGN SGPQKLYSST PDLTIQFHSD
PAGLIFGKGQ GFIMNYIEVS RNDSCSDLPE IQNGWKTTSH TELVRGARIT YQCDPGYDIV
GSDTLTCQWD LSWSSDPPFC EKTEESLACD NPGLPENGYQ ILYKRLYLPG ESLTFMCYEG
FELMGEVTIR CILGQPSHWN GPLPVCKVAE AAAETSLEGG NMALAIFIPV LIISLLLGGA
YIYITRCRYY SNLRLPLMYS HPYSQITVET EFDNPIYETG ETREYEVSI*

mutated AA sequence

MPAARPPAAG LRGISLFLAL LLGSPAAALE RDALPEGDAS PLGPYLLPSG APERGSPGKE
HPEERVVTAP PSSSQSAEVL GELVLDGTAP SAHHDIPALS PLLPEEARPK HALPPKKKLP
SLKQVNSARK QLRPKATSAA TVQRAGSQPA SQGLDLLSSS TEKPGPPGDP DPIVASEEAS
EVPLWLDRKE SAVPTTPAPL QISPFTSQPY VAHTLPQRPE PGEPGPDMAQ EAPQEDTSPM
ALMDKGENEL TGSASEESQE TTTSTIITTT VITTEQAPAL CSVSFSNPEG YIDSSDYPLL
PLNNFLECTY NVTVYTGYGV ELQVKSVNLS DGELLSIRGV DGPTLTVLAN QTLLVEGQVI
RSPTNTISVY FRTFQDDGLG TFQLHYQAFM LSCNFPRRPD SGDVTVMDLH SGGVAHFHCH
LGYELQGAKI LTCINASKPH WSSQEPICSA PCGGAVHNAT IGRVLSPSYP ENTNGSQFCI
WTIEAPEGQK LHLHFERLLL HDKDRMTVHS GQTNKSALLY DSLQTESVPF EGLLSEGNTI
RIEFTSDQAR AASTFNIRFE AFEKGHCYEP YIQNGNFTTS DPTYNIGTIV EFTCDPGHSL
EQGPAIIECI NVRDPYWNDT EPLCRAMCGG ELSAVAGVVL SPNWPEPYVE GEDCIWKIHV
GEEKRIFLDI QFLNLSNSDI LTIYDGDEVM PHILGQYLGN SGPQKLYSST PDLTIQFHSD
PAGLIFGKGQ GFIMNYIEVS RNDSCSDLPE IQNGWKTTSH TELVRGARIT YQCDPGYDIV
GSDTLTCQWD LSWSSDPPFC EKTEESLACD NPGLPENGYQ ILYKRLYLPG ESLTFMCYEG
FELMGEVTIR CILGQPSHWN GPLPVCKVAE AAAETSLEGG NMALAIFIPV LIISLLLGGA
YIYITRCRYY SNLRLPLMYS HPYSQITVET EFDNPIYETG ETREYEVSI*

speed

0.93 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