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: ENST00000308059
Querying Taster for transcript #2: ENST00000346219
Querying Taster for transcript #3: ENST00000452631
MT speed 0 s - this script 3.80446 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
DLEC1	polymorphism_automatic	6.21596696337434e-09	simple_aae		affected		L79R	single base exchange	rs7625806		show file
DLEC1	polymorphism_automatic	6.21596696337434e-09	simple_aae		affected		L79R	single base exchange	rs7625806		show file
DLEC1	polymorphism_automatic	6.21596696337434e-09	simple_aae		affected		L79R	single base exchange	rs7625806		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999993784033 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:38080952T>GN/A show variant in all transcripts IGV

HGNC symbol

DLEC1

Ensembl transcript ID

ENST00000308059

Genbank transcript ID

NM_007335

UniProt peptide

Q9Y238

alteration type

single base exchange

alteration region

CDS

DNA changes

c.236T>G
cDNA.257T>G
g.257T>G

AA changes

L79R Score: 102 explain score(s)

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

frameshift

known variant

Reference ID: rs7625806

database	homozygous (G/G)	heterozygous	allele carriers
1000G	571	1116	1687
ExAC	8768	15231	23999

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
ELF1, Transcription Factor, ELF1 Transcription Factor Binding
H2AZ, Histone, Histone 2A variant Z
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.087	0.003
	-0.121	0.019
(flanking)	1.094	0.297

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 increased	257	wt: 0.39 / mu: 0.46	wt: TCAGCTGCTTCGTCT mu: TCAGCGGCTTCGTCT	AGCT\|gctt
Donor increased	254	wt: 0.31 / mu: 0.45	wt: GCCTCAGCTGCTTCG mu: GCCTCAGCGGCTTCG	CTCA\|gctg

distance from splice site

176

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000014752

Mmulatta

all identical

ENSMMUG00000000987

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000038060

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000017488

Drerio

all conserved

ENSDARG00000075825

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000018451

protein features

start (aa)	end (aa)	feature	details
704	704	CONFLICT	E -> M (in Ref. 2; CAB70884).	might get lost (downstream of altered splice site)
1442	1442	CONFLICT	G -> R (in Ref. 1; BAA77624/BAA77247).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5268 / 5268

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

1756 / 1756

position of stopcodon in wt / mu cDNA

5289 / 5289

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

22 / 22

chromosome

strand

last intron/exon boundary

5166

theoretical NMD boundary in CDS

5094

length of CDS

5268

coding sequence (CDS) position

236

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

257

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

257

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

38080952

original gDNA sequence snippet

GCAGCGTCCCGAGCCTCAGCTGCTTCGTCTGCGCCCCTCCT

altered gDNA sequence snippet

GCAGCGTCCCGAGCCTCAGCGGCTTCGTCTGCGCCCCTCCT

original cDNA sequence snippet

GCAGCGTCCCGAGCCTCAGCTGCTTCGTCTGCGCCCCTCCT

altered cDNA sequence snippet

GCAGCGTCCCGAGCCTCAGCGGCTTCGTCTGCGCCCCTCCT

wildtype AA sequence

METRSSKTRR SLASRTNECQ GTMWAPTSPP AGSSSPSQPT WKSSLYSSLA YSEAFHYSFA
ARPRRLTQLA LAQRPEPQLL RLRPSSLRTQ DISHLLTGVF RNLYSAEVIG DEVSASLIKA
RGSENERHEE FVDQLQQIRE LYKQRLDEFE MLERHITQAQ ARAIAENERV MSQAGVQDLE
SLVRLPPVKS VSRWCIDSEL LRKHHLISPE DYYTDTVPFH SAPKGISLPG CSKLTFSCEK
RSVQKKELNK KLEDSCRKKL AEFEDELDHT VDSLTWNLTP KAKERTREPL KKASQPRNKN
WMNHLRVPQR ELDRLLLARM ESRNHFLKNP RFFPPNTRYG GKSLVFPPKK PAPIGEFQST
EPEQSCADTP VFLAKPPIGF FTDYEIGPVY EMVIALQNTT TTSRYLRVLP PSTPYFALGL
GMFPGKGGMV APGMTCQYIV QFFPDCLGDF DDFILVETQS AHTLLIPLQA RRPPPVLTLS
PVLDCGYCLI GGVKMTRFIC KNVGFSVGRF CIMPKTSWPP LSFKAIATVG FVEQPPFGIL
PSVFELAPGH AILVEVLFSP KSLGKAEQTF IIMCDNCQIK ELVTIGIGQL IALDLIYISG
EKSQPDPGEL TDLTAQHFIR FEPENLRSTA RKQLIIRNAT HVELAFYWQI MKPNLQPLMP
GETFSMDSIK CYPDKETAFS IMPRKGVLSP HTDHEFILSF SPHELRDFHS VLQMVLEEVP
EPVSSEAESL GHSSYSVDDV IVLEIEVKGS VEPFQVLLEP YALIIPGENY IGINVKKAFK
MWNNSKSPIR YLWGKISDCH IIEVEPGTGV IEPSEVGDFE LNFTGGVPGP TSQDLLCEIE
DSPSPVVLHI EAVFKGPALI INVSALQFGL LRLGQKATNS IQIRNVSQLP ATWRMKESPV
SLQERPEDVS PFDIEPSSGQ LHSLGECRVD ITLEALHCQH LETVLELEVE NGAWSYLPVY
AEVQKPHVYL QSSQVEVRNL YLGVPTKTTI TLINGTLLPT QFHWGKLLGH QAEFCMVTVS
PKHGLLGPSE ECQLKLELTA HTQEELTHLA LPCHVSGMKK PLVLGISGKP QGLQVAITIS
KESSDCSTEQ WPGHPKELRL DFGSAVPLRT RVTRQLILTN RSPIRTRFSL KFEYFGSPQN
SLSKKTSLPN MPPALLKTVR MQEHLAKREQ LDFMESMLSH GKGAAFFPHF SQGMLGPYQQ
LCIDITGCAN MWGEYWDNLI CTVGDLLPEV IPVHMAAVGC PISSLRTTSY TIDQAQKEPA
MRFGTQVSGG DTVTRTLRLN NSSPCDIRLD WETYVPEDKE DRLVELLVFY GPPFPLRDQA
GNELVCPDTP EGGCLLWSPG PSSSSEFSHE TDSSVEGSSS ASNRVAQKLI SVILQAHEGV
PSGHLYCISP KQVVVPAGGS STIYISFTPM VLSPEILHKV ECTGYALGFM SLDSKVEREI
PGKRHRLQDF AVGPLKLDLH SYVRPAQLSV ELDYGGSMEF QCQASDLIPE QPCSGVLSEL
VTTHHLKLTN TTEIPHYFRL MVSRPFSVSQ DGASQDHRAP GPGQKQECEE ETASADKQLV
LQAQENMLVN VSFSLSLELL SYQKLPADQT LPGVDIQQSA SGEREMVFTQ NLLLEYTNQT
TQVVPLRAVV AVPELQLSTS WVDFGTCFVS QQRVREVYLM NLSGCRSYWT MLMGQQEPAK
AAVAFRVSPN SGLLEARSAN APPTSIALQV FFTARSSELY ESTMVVEGVL GEKSCTLRLR
GQGSYDERYM LPHQP*

mutated AA sequence

METRSSKTRR SLASRTNECQ GTMWAPTSPP AGSSSPSQPT WKSSLYSSLA YSEAFHYSFA
ARPRRLTQLA LAQRPEPQRL RLRPSSLRTQ DISHLLTGVF RNLYSAEVIG DEVSASLIKA
RGSENERHEE FVDQLQQIRE LYKQRLDEFE MLERHITQAQ ARAIAENERV MSQAGVQDLE
SLVRLPPVKS VSRWCIDSEL LRKHHLISPE DYYTDTVPFH SAPKGISLPG CSKLTFSCEK
RSVQKKELNK KLEDSCRKKL AEFEDELDHT VDSLTWNLTP KAKERTREPL KKASQPRNKN
WMNHLRVPQR ELDRLLLARM ESRNHFLKNP RFFPPNTRYG GKSLVFPPKK PAPIGEFQST
EPEQSCADTP VFLAKPPIGF FTDYEIGPVY EMVIALQNTT TTSRYLRVLP PSTPYFALGL
GMFPGKGGMV APGMTCQYIV QFFPDCLGDF DDFILVETQS AHTLLIPLQA RRPPPVLTLS
PVLDCGYCLI GGVKMTRFIC KNVGFSVGRF CIMPKTSWPP LSFKAIATVG FVEQPPFGIL
PSVFELAPGH AILVEVLFSP KSLGKAEQTF IIMCDNCQIK ELVTIGIGQL IALDLIYISG
EKSQPDPGEL TDLTAQHFIR FEPENLRSTA RKQLIIRNAT HVELAFYWQI MKPNLQPLMP
GETFSMDSIK CYPDKETAFS IMPRKGVLSP HTDHEFILSF SPHELRDFHS VLQMVLEEVP
EPVSSEAESL GHSSYSVDDV IVLEIEVKGS VEPFQVLLEP YALIIPGENY IGINVKKAFK
MWNNSKSPIR YLWGKISDCH IIEVEPGTGV IEPSEVGDFE LNFTGGVPGP TSQDLLCEIE
DSPSPVVLHI EAVFKGPALI INVSALQFGL LRLGQKATNS IQIRNVSQLP ATWRMKESPV
SLQERPEDVS PFDIEPSSGQ LHSLGECRVD ITLEALHCQH LETVLELEVE NGAWSYLPVY
AEVQKPHVYL QSSQVEVRNL YLGVPTKTTI TLINGTLLPT QFHWGKLLGH QAEFCMVTVS
PKHGLLGPSE ECQLKLELTA HTQEELTHLA LPCHVSGMKK PLVLGISGKP QGLQVAITIS
KESSDCSTEQ WPGHPKELRL DFGSAVPLRT RVTRQLILTN RSPIRTRFSL KFEYFGSPQN
SLSKKTSLPN MPPALLKTVR MQEHLAKREQ LDFMESMLSH GKGAAFFPHF SQGMLGPYQQ
LCIDITGCAN MWGEYWDNLI CTVGDLLPEV IPVHMAAVGC PISSLRTTSY TIDQAQKEPA
MRFGTQVSGG DTVTRTLRLN NSSPCDIRLD WETYVPEDKE DRLVELLVFY GPPFPLRDQA
GNELVCPDTP EGGCLLWSPG PSSSSEFSHE TDSSVEGSSS ASNRVAQKLI SVILQAHEGV
PSGHLYCISP KQVVVPAGGS STIYISFTPM VLSPEILHKV ECTGYALGFM SLDSKVEREI
PGKRHRLQDF AVGPLKLDLH SYVRPAQLSV ELDYGGSMEF QCQASDLIPE QPCSGVLSEL
VTTHHLKLTN TTEIPHYFRL MVSRPFSVSQ DGASQDHRAP GPGQKQECEE ETASADKQLV
LQAQENMLVN VSFSLSLELL SYQKLPADQT LPGVDIQQSA SGEREMVFTQ NLLLEYTNQT
TQVVPLRAVV AVPELQLSTS WVDFGTCFVS QQRVREVYLM NLSGCRSYWT MLMGQQEPAK
AAVAFRVSPN SGLLEARSAN APPTSIALQV FFTARSSELY ESTMVVEGVL GEKSCTLRLR
GQGSYDERYM LPHQP*

speed

0.91 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: 0.999999993784033 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:38080952T>GN/A show variant in all transcripts IGV

HGNC symbol

DLEC1

Ensembl transcript ID

ENST00000346219

Genbank transcript ID

NM_007337

UniProt peptide

Q9Y238

alteration type

single base exchange

alteration region

CDS

DNA changes

c.236T>G
cDNA.257T>G
g.257T>G

AA changes

L79R Score: 102 explain score(s)

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

frameshift

known variant

Reference ID: rs7625806

database	homozygous (G/G)	heterozygous	allele carriers
1000G	571	1116	1687
ExAC	8768	15231	23999

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.087	0.003
	-0.121	0.019
(flanking)	1.094	0.297

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 increased	257	wt: 0.39 / mu: 0.46	wt: TCAGCTGCTTCGTCT mu: TCAGCGGCTTCGTCT	AGCT\|gctt
Donor increased	254	wt: 0.31 / mu: 0.45	wt: GCCTCAGCTGCTTCG mu: GCCTCAGCGGCTTCG	CTCA\|gctg

distance from splice site

176

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000014752

Mmulatta

all identical

ENSMMUG00000000987

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000038060

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000017488

Drerio

all conserved

ENSDARG00000075825

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000018451

protein features

start (aa)	end (aa)	feature	details
704	704	CONFLICT	E -> M (in Ref. 2; CAB70884).	might get lost (downstream of altered splice site)
1442	1442	CONFLICT	G -> R (in Ref. 1; BAA77624/BAA77247).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5337 / 5337

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

1779 / 1779

position of stopcodon in wt / mu cDNA

5358 / 5358

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

22 / 22

chromosome

strand

last intron/exon boundary

5042

theoretical NMD boundary in CDS

4970

length of CDS

5337

coding sequence (CDS) position

236

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

257

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

257

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

38080952

original gDNA sequence snippet

GCAGCGTCCCGAGCCTCAGCTGCTTCGTCTGCGCCCCTCCT

altered gDNA sequence snippet

GCAGCGTCCCGAGCCTCAGCGGCTTCGTCTGCGCCCCTCCT

original cDNA sequence snippet

GCAGCGTCCCGAGCCTCAGCTGCTTCGTCTGCGCCCCTCCT

altered cDNA sequence snippet

GCAGCGTCCCGAGCCTCAGCGGCTTCGTCTGCGCCCCTCCT

wildtype AA sequence

METRSSKTRR SLASRTNECQ GTMWAPTSPP AGSSSPSQPT WKSSLYSSLA YSEAFHYSFA
ARPRRLTQLA LAQRPEPQLL RLRPSSLRTQ DISHLLTGVF RNLYSAEVIG DEVSASLIKA
RGSENERHEE FVDQLQQIRE LYKQRLDEFE MLERHITQAQ ARAIAENERV MSQAGVQDLE
SLVRLPPVKS VSRWCIDSEL LRKHHLISPE DYYTDTVPFH SAPKGISLPG CSKLTFSCEK
RSVQKKELNK KLEDSCRKKL AEFEDELDHT VDSLTWNLTP KAKERTREPL KKASQPRNKN
WMNHLRVPQR ELDRLLLARM ESRNHFLKNP RFFPPNTRYG GKSLVFPPKK PAPIGEFQST
EPEQSCADTP VFLAKPPIGF FTDYEIGPVY EMVIALQNTT TTSRYLRVLP PSTPYFALGL
GMFPGKGGMV APGMTCQYIV QFFPDCLGDF DDFILVETQS AHTLLIPLQA RRPPPVLTLS
PVLDCGYCLI GGVKMTRFIC KNVGFSVGRF CIMPKTSWPP LSFKAIATVG FVEQPPFGIL
PSVFELAPGH AILVEVLFSP KSLGKAEQTF IIMCDNCQIK ELVTIGIGQL IALDLIYISG
EKSQPDPGEL TDLTAQHFIR FEPENLRSTA RKQLIIRNAT HVELAFYWQI MKPNLQPLMP
GETFSMDSIK CYPDKETAFS IMPRKGVLSP HTDHEFILSF SPHELRDFHS VLQMVLEEVP
EPVSSEAESL GHSSYSVDDV IVLEIEVKGS VEPFQVLLEP YALIIPGENY IGINVKKAFK
MWNNSKSPIR YLWGKISDCH IIEVEPGTGV IEPSEVGDFE LNFTGGVPGP TSQDLLCEIE
DSPSPVVLHI EAVFKGPALI INVSALQFGL LRLGQKATNS IQIRNVSQLP ATWRMKESPV
SLQERPEDVS PFDIEPSSGQ LHSLGECRVD ITLEALHCQH LETVLELEVE NGAWSYLPVY
AEVQKPHVYL QSSQVEVRNL YLGVPTKTTI TLINGTLLPT QFHWGKLLGH QAEFCMVTVS
PKHGLLGPSE ECQLKLELTA HTQEELTHLA LPCHVSGMKK PLVLGISGKP QGLQVAITIS
KESSDCSTEQ WPGHPKELRL DFGSAVPLRT RVTRQLILTN RSPIRTRFSL KFEYFGSPQN
SLSKKTSLPN MPPALLKTVR MQEHLAKREQ LDFMESMLSH GKGAAFFPHF SQGMLGPYQQ
LCIDITGCAN MWGEYWDNLI CTVGDLLPEV IPVHMAAVGC PISSLRTTSY TIDQAQKEPA
MRFGTQVSGG DTVTRTLRLN NSSPCDIRLD WETYVPEDKE DRLVELLVFY GPPFPLRDQA
GNELVCPDTP EGGCLLWSPG PSSSSEFSHE TDSSVEGSSS ASNRVAQKLI SVILQAHEGV
PSGHLYCISP KQVVVPAGGS STIYISFTPM VLSPEILHKV ECTGYALGFM SLDSKVEREI
PGKRHRLQDF AVGPLKLDLH SYVRPAQLSV ELDYGGSMEF QCQASDLIPE QPCSGVLSEL
VTTHHLKLTN TTEIPHYFRL MVSRPFSVSQ DGASQDHRAP GPGQKQECEE ETASADKQLV
LQAQENMLVN VSFSLSLELL SYQKLPADQT LPGVDIQQSA SGEREMVFTQ NLLLEYTNQT
TQVVPLRAVV AVPELQLSTS WVDFGTCFVS QQRVREVYLM NLSGCRSYWT MLMGVVSCTS
PRWWWKVCSV RSPAPCGSGA KAPMMRDTCC LTSPEAPPQP SAPGPSWRKN IAQGLGAALQ
HKDTDLGTWG PLGSSWNGRT PFHNGLSLGP HDMSSELT*

mutated AA sequence

METRSSKTRR SLASRTNECQ GTMWAPTSPP AGSSSPSQPT WKSSLYSSLA YSEAFHYSFA
ARPRRLTQLA LAQRPEPQRL RLRPSSLRTQ DISHLLTGVF RNLYSAEVIG DEVSASLIKA
RGSENERHEE FVDQLQQIRE LYKQRLDEFE MLERHITQAQ ARAIAENERV MSQAGVQDLE
SLVRLPPVKS VSRWCIDSEL LRKHHLISPE DYYTDTVPFH SAPKGISLPG CSKLTFSCEK
RSVQKKELNK KLEDSCRKKL AEFEDELDHT VDSLTWNLTP KAKERTREPL KKASQPRNKN
WMNHLRVPQR ELDRLLLARM ESRNHFLKNP RFFPPNTRYG GKSLVFPPKK PAPIGEFQST
EPEQSCADTP VFLAKPPIGF FTDYEIGPVY EMVIALQNTT TTSRYLRVLP PSTPYFALGL
GMFPGKGGMV APGMTCQYIV QFFPDCLGDF DDFILVETQS AHTLLIPLQA RRPPPVLTLS
PVLDCGYCLI GGVKMTRFIC KNVGFSVGRF CIMPKTSWPP LSFKAIATVG FVEQPPFGIL
PSVFELAPGH AILVEVLFSP KSLGKAEQTF IIMCDNCQIK ELVTIGIGQL IALDLIYISG
EKSQPDPGEL TDLTAQHFIR FEPENLRSTA RKQLIIRNAT HVELAFYWQI MKPNLQPLMP
GETFSMDSIK CYPDKETAFS IMPRKGVLSP HTDHEFILSF SPHELRDFHS VLQMVLEEVP
EPVSSEAESL GHSSYSVDDV IVLEIEVKGS VEPFQVLLEP YALIIPGENY IGINVKKAFK
MWNNSKSPIR YLWGKISDCH IIEVEPGTGV IEPSEVGDFE LNFTGGVPGP TSQDLLCEIE
DSPSPVVLHI EAVFKGPALI INVSALQFGL LRLGQKATNS IQIRNVSQLP ATWRMKESPV
SLQERPEDVS PFDIEPSSGQ LHSLGECRVD ITLEALHCQH LETVLELEVE NGAWSYLPVY
AEVQKPHVYL QSSQVEVRNL YLGVPTKTTI TLINGTLLPT QFHWGKLLGH QAEFCMVTVS
PKHGLLGPSE ECQLKLELTA HTQEELTHLA LPCHVSGMKK PLVLGISGKP QGLQVAITIS
KESSDCSTEQ WPGHPKELRL DFGSAVPLRT RVTRQLILTN RSPIRTRFSL KFEYFGSPQN
SLSKKTSLPN MPPALLKTVR MQEHLAKREQ LDFMESMLSH GKGAAFFPHF SQGMLGPYQQ
LCIDITGCAN MWGEYWDNLI CTVGDLLPEV IPVHMAAVGC PISSLRTTSY TIDQAQKEPA
MRFGTQVSGG DTVTRTLRLN NSSPCDIRLD WETYVPEDKE DRLVELLVFY GPPFPLRDQA
GNELVCPDTP EGGCLLWSPG PSSSSEFSHE TDSSVEGSSS ASNRVAQKLI SVILQAHEGV
PSGHLYCISP KQVVVPAGGS STIYISFTPM VLSPEILHKV ECTGYALGFM SLDSKVEREI
PGKRHRLQDF AVGPLKLDLH SYVRPAQLSV ELDYGGSMEF QCQASDLIPE QPCSGVLSEL
VTTHHLKLTN TTEIPHYFRL MVSRPFSVSQ DGASQDHRAP GPGQKQECEE ETASADKQLV
LQAQENMLVN VSFSLSLELL SYQKLPADQT LPGVDIQQSA SGEREMVFTQ NLLLEYTNQT
TQVVPLRAVV AVPELQLSTS WVDFGTCFVS QQRVREVYLM NLSGCRSYWT MLMGVVSCTS
PRWWWKVCSV RSPAPCGSGA KAPMMRDTCC LTSPEAPPQP SAPGPSWRKN IAQGLGAALQ
HKDTDLGTWG PLGSSWNGRT PFHNGLSLGP HDMSSELT*

speed

0.87 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999993784033 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:38080952T>GN/A show variant in all transcripts IGV

HGNC symbol

DLEC1

Ensembl transcript ID

ENST00000452631

Genbank transcript ID

N/A

UniProt peptide

Q9Y238

alteration type

single base exchange

alteration region

CDS

DNA changes

c.236T>G
cDNA.257T>G
g.257T>G

AA changes

L79R Score: 102 explain score(s)

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

frameshift

known variant

Reference ID: rs7625806

database	homozygous (G/G)	heterozygous	allele carriers
1000G	571	1116	1687
ExAC	8768	15231	23999

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.087	0.003
	-0.121	0.019
(flanking)	1.094	0.297

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 increased	257	wt: 0.39 / mu: 0.46	wt: TCAGCTGCTTCGTCT mu: TCAGCGGCTTCGTCT	AGCT\|gctt
Donor increased	254	wt: 0.31 / mu: 0.45	wt: GCCTCAGCTGCTTCG mu: GCCTCAGCGGCTTCG	CTCA\|gctg

distance from splice site

176

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000014752

Mmulatta

all identical

ENSMMUG00000000987

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000038060

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000017488

Drerio

all conserved

ENSDARG00000075825

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000018451

protein features

start (aa)	end (aa)	feature	details
704	704	CONFLICT	E -> M (in Ref. 2; CAB70884).	might get lost (downstream of altered splice site)
1442	1442	CONFLICT	G -> R (in Ref. 1; BAA77624/BAA77247).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5277 / 5277

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

1759 / 1759

position of stopcodon in wt / mu cDNA

5298 / 5298

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

22 / 22

chromosome

strand

last intron/exon boundary

5175

theoretical NMD boundary in CDS

5103

length of CDS

5277

coding sequence (CDS) position

236

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

257

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

257

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

38080952

original gDNA sequence snippet

GCAGCGTCCCGAGCCTCAGCTGCTTCGTCTGCGCCCCTCCT

altered gDNA sequence snippet

GCAGCGTCCCGAGCCTCAGCGGCTTCGTCTGCGCCCCTCCT

original cDNA sequence snippet

GCAGCGTCCCGAGCCTCAGCTGCTTCGTCTGCGCCCCTCCT

altered cDNA sequence snippet

GCAGCGTCCCGAGCCTCAGCGGCTTCGTCTGCGCCCCTCCT

wildtype AA sequence

METRSSKTRR SLASRTNECQ GTMWAPTSPP AGSSSPSQPT WKSSLYSSLA YSEAFHYSFA
ARPRRLTQLA LAQRPEPQLL RLRPSSLRTQ DISHLLTGVF RNLYSAEVIG DEVSASLIKA
RGSENERHEE FVDQLQQIRE LYKQRLDEFE MLERHITQAQ ARAIAENERV MSQAGVQDLE
SLVRLPPVKS VSRWCIDSEL LRKHHLISPE DYYTDTVPFH SAPKGISLPG CSKLTFSCEK
RSVQKKELNK KLEDSCRKKL AEFEDELDHT VDSLTWNLTP KAKERTREPL KKASQPRNKN
WMNHLRVPQR ELDRLLLARM ESRNHFLKNP RFFPPNTRYG GKSLVFPPKK PAPIGEFQST
EPEQSCADTP VFLAKPPIGF FTDYEIGPVY EMVIALQNTT TTSRYLRVLP PSTPYFALGL
GMFPGKGGMV APGMTCQYIV QFFPDCLGDF DDFILVETQS AHTLLIPLQA RRPPPVLTLS
PVLDCGYCLI GGVKMTRFIC KNVGFSVGRF CIMPKTSWPP LSFKAIATVG FVEQPPFGIL
PSVFELAPGH AILVEVLFSP KSLGKAEQTF IIMCDNCQIK ELVTIGIGQL IALDLIYISG
EKSQPDPGEL TDLTAQHFIR FEPENLRSTA RKQLIIRNAT HVELAFYWQI MKPNLQPLMP
GETFSMDSIK CYPDKETAFS IMPRKGVLSP HTDHEFILSF SPHELRDFHS VLQMVLEEVP
EPVSSEAESL GHSSYSVDDV IVLEIEVKGS VEPFQVLLEP YALIIPGENY IGINVKKAFK
MWNNSKSPIR YLWGKISDCH IIEVEPGTGV IEPSEVGDFE LNFTGGVPGP TSQDLLCEIE
DSPSPVVLHI EAVFKGPALI INVSALQFGL LRLGQKATNS IQIRNVSQLP ATWRMKESPV
SLQERPEDVS PFDIEPSSGQ LHSLGECRVD ITLEALHCQH LETVLELEVE NGAWSYLPVY
AEVQKPHVYL QSSQVEVRNL YLGVPTKTTI TLINGTLLPT QFHWGKLLGH QAEFCMVTVS
PKHGLLGPSE ECQLKLELTA HTQEELTHLA LPCHVSGMKK PLVLGISGKP QGLQVAITIS
KESSDCSVFS TEQWPGHPKE LRLDFGSAVP LRTRVTRQLI LTNRSPIRTR FSLKFEYFGS
PQNSLSKKTS LPNMPPALLK TVRMQEHLAK REQLDFMESM LSHGKGAAFF PHFSQGMLGP
YQQLCIDITG CANMWGEYWD NLICTVGDLL PEVIPVHMAA VGCPISSLRT TSYTIDQAQK
EPAMRFGTQV SGGDTVTRTL RLNNSSPCDI RLDWETYVPE DKEDRLVELL VFYGPPFPLR
DQAGNELVCP DTPEGGCLLW SPGPSSSSEF SHETDSSVEG SSSASNRVAQ KLISVILQAH
EGVPSGHLYC ISPKQVVVPA GGSSTIYISF TPMVLSPEIL HKVECTGYAL GFMSLDSKVE
REIPGKRHRL QDFAVGPLKL DLHSYVRPAQ LSVELDYGGS MEFQCQASDL IPEQPCSGVL
SELVTTHHLK LTNTTEIPHY FRLMVSRPFS VSQDGASQDH RAPGPGQKQE CEEETASADK
QLVLQAQENM LVNVSFSLSL ELLSYQKLPA DQTLPGVDIQ QSASGEREMV FTQNLLLEYT
NQTTQVVPLR AVVAVPELQL STSWVDFGTC FVSQQRVREV YLMNLSGCRS YWTMLMGQQE
PAKAAVAFRV SPNSGLLEAR SANAPPTSIA LQVFFTARSS ELYESTMVVE GVLGEKSCTL
RLRGQGSYDE RYMLPHQP*

mutated AA sequence

METRSSKTRR SLASRTNECQ GTMWAPTSPP AGSSSPSQPT WKSSLYSSLA YSEAFHYSFA
ARPRRLTQLA LAQRPEPQRL RLRPSSLRTQ DISHLLTGVF RNLYSAEVIG DEVSASLIKA
RGSENERHEE FVDQLQQIRE LYKQRLDEFE MLERHITQAQ ARAIAENERV MSQAGVQDLE
SLVRLPPVKS VSRWCIDSEL LRKHHLISPE DYYTDTVPFH SAPKGISLPG CSKLTFSCEK
RSVQKKELNK KLEDSCRKKL AEFEDELDHT VDSLTWNLTP KAKERTREPL KKASQPRNKN
WMNHLRVPQR ELDRLLLARM ESRNHFLKNP RFFPPNTRYG GKSLVFPPKK PAPIGEFQST
EPEQSCADTP VFLAKPPIGF FTDYEIGPVY EMVIALQNTT TTSRYLRVLP PSTPYFALGL
GMFPGKGGMV APGMTCQYIV QFFPDCLGDF DDFILVETQS AHTLLIPLQA RRPPPVLTLS
PVLDCGYCLI GGVKMTRFIC KNVGFSVGRF CIMPKTSWPP LSFKAIATVG FVEQPPFGIL
PSVFELAPGH AILVEVLFSP KSLGKAEQTF IIMCDNCQIK ELVTIGIGQL IALDLIYISG
EKSQPDPGEL TDLTAQHFIR FEPENLRSTA RKQLIIRNAT HVELAFYWQI MKPNLQPLMP
GETFSMDSIK CYPDKETAFS IMPRKGVLSP HTDHEFILSF SPHELRDFHS VLQMVLEEVP
EPVSSEAESL GHSSYSVDDV IVLEIEVKGS VEPFQVLLEP YALIIPGENY IGINVKKAFK
MWNNSKSPIR YLWGKISDCH IIEVEPGTGV IEPSEVGDFE LNFTGGVPGP TSQDLLCEIE
DSPSPVVLHI EAVFKGPALI INVSALQFGL LRLGQKATNS IQIRNVSQLP ATWRMKESPV
SLQERPEDVS PFDIEPSSGQ LHSLGECRVD ITLEALHCQH LETVLELEVE NGAWSYLPVY
AEVQKPHVYL QSSQVEVRNL YLGVPTKTTI TLINGTLLPT QFHWGKLLGH QAEFCMVTVS
PKHGLLGPSE ECQLKLELTA HTQEELTHLA LPCHVSGMKK PLVLGISGKP QGLQVAITIS
KESSDCSVFS TEQWPGHPKE LRLDFGSAVP LRTRVTRQLI LTNRSPIRTR FSLKFEYFGS
PQNSLSKKTS LPNMPPALLK TVRMQEHLAK REQLDFMESM LSHGKGAAFF PHFSQGMLGP
YQQLCIDITG CANMWGEYWD NLICTVGDLL PEVIPVHMAA VGCPISSLRT TSYTIDQAQK
EPAMRFGTQV SGGDTVTRTL RLNNSSPCDI RLDWETYVPE DKEDRLVELL VFYGPPFPLR
DQAGNELVCP DTPEGGCLLW SPGPSSSSEF SHETDSSVEG SSSASNRVAQ KLISVILQAH
EGVPSGHLYC ISPKQVVVPA GGSSTIYISF TPMVLSPEIL HKVECTGYAL GFMSLDSKVE
REIPGKRHRL QDFAVGPLKL DLHSYVRPAQ LSVELDYGGS MEFQCQASDL IPEQPCSGVL
SELVTTHHLK LTNTTEIPHY FRLMVSRPFS VSQDGASQDH RAPGPGQKQE CEEETASADK
QLVLQAQENM LVNVSFSLSL ELLSYQKLPA DQTLPGVDIQ QSASGEREMV FTQNLLLEYT
NQTTQVVPLR AVVAVPELQL STSWVDFGTC FVSQQRVREV YLMNLSGCRS YWTMLMGQQE
PAKAAVAFRV SPNSGLLEAR SANAPPTSIA LQVFFTARSS ELYESTMVVE GVLGEKSCTL
RLRGQGSYDE RYMLPHQP*

speed

0.84 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