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: ENST00000399017
Querying Taster for transcript #2: ENST00000354749
Querying Taster for transcript #3: ENST00000355666
Querying Taster for transcript #4: ENST00000540756
MT speed 0 s - this script 4.077888 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
TTC3	polymorphism_automatic	7.68449416987949e-07	simple_aae				M840T	single base exchange	rs1053808		show file
TTC3	polymorphism_automatic	7.68449416987949e-07	simple_aae				M840T	single base exchange	rs1053808		show file
TTC3	polymorphism_automatic	7.68449416987949e-07	simple_aae				M840T	single base exchange	rs1053808		show file
TTC3	polymorphism_automatic	7.68449416987949e-07	simple_aae				M530T	single base exchange	rs1053808		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999231550583 (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)

chr21:38525356T>CN/A show variant in all transcripts IGV

HGNC symbol

TTC3

Ensembl transcript ID

ENST00000399017

Genbank transcript ID

NM_003316

UniProt peptide

P53804

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2519T>C
cDNA.5266T>C
g.79831T>C

AA changes

M840T Score: 81 explain score(s)

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

840

frameshift

known variant

Reference ID: rs1053808

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1000	1145	2145
ExAC	19209	-5651	13558

regulatory features

H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.121	0.953
	-0.103	0.888
(flanking)	0.066	0.894

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	79836	wt: 0.6757 / mu: 0.6843 (marginal change - not scored)	wt: TGCTTCTCAAAGAAT mu: CGCTTCTCAAAGAAT	CTTC\|tcaa
Donor marginally increased	79826	wt: 0.9960 / mu: 0.9974 (marginal change - not scored)	wt: AATACAGCCATGCTT mu: AATACAGCCACGCTT	TACA\|gcca

distance from splice site

106

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

840

mutated

not conserved

840

Ptroglodytes

not conserved

ENSPTRG00000013898

840

Mmulatta

not conserved

ENSMMUG00000017505

839

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000040785

840

Ggallus

not conserved

ENSGALG00000016050

773

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000086075

278

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

6078 / 6078

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

2026 / 2026

position of stopcodon in wt / mu cDNA

8825 / 8825

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

2748 / 2748

chromosome

strand

last intron/exon boundary

8691

theoretical NMD boundary in CDS

5893

length of CDS

6078

coding sequence (CDS) position

2519

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

5266

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

79831

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

38525356

original gDNA sequence snippet

CGGCATACAGAATACAGCCATGCTTCTCAAAGAATTGCTTT

altered gDNA sequence snippet

CGGCATACAGAATACAGCCACGCTTCTCAAAGAATTGCTTT

original cDNA sequence snippet

CGGCATACAGAATACAGCCATGCTTCTCAAAGAATTGCTTT

altered cDNA sequence snippet

CGGCATACAGAATACAGCCACGCTTCTCAAAGAATTGCTTT

wildtype AA sequence

MDNFAEGDFT VADYALLEDC PHVDDCVFAA EFMSNDYVRV TQLYCDGVGV QYKDYIQSER
NLEFDICSIW CSKPISVLQD YCDAIKINIF WPLLFQHQNS SVISRLHPCV DANNSRASEI
NLKKLQHLEL MEDIVDLAKK VANDSFLIGG LLRIGCKIEN KILAMEEALN WIKYAGDVTI
LTKLGSIDNC WPMLSIFFTE YKYHITKIVM EDCNLLEELK TQSCMDCIEE GELMKMKGNE
EFSKERFDIA IIYYTRAIEY RPENYLLYGN RALCFLRTGQ FRNALGDGKR ATILKNTWPK
GHYRYCDALS MLGEYDWALQ ANIKAQKLCK NDPEGIKDLI QQHVKLQKQI EDLQGRTANK
DPIKAFYENR AYTPRSLSAP IFTTSLNFVE KERDFRKINH EMANGGNQNL KVADEALKVD
DCDCHPEFSP PSSQPPKHKG KQKSRNNESE KFSSSSPLTL PADLKNILEK QFSKSSRAAH
QDFANIMKML RSLIQDGYMA LLEQRCRSAA QAFTELLNGL DPQKIKQLNL AMINYVLVVY
GLAISLLGIG QPEELSEAEN QFKRIIEHYP SEGLDCLAYC GIGKVYLKKN RFLEALNHFE
KARTLIYRLP GVLTWPTSNV IIEESQPQKI KMLLEKFVEE CKFPPVPDAI CCYQKCHGYS
KIQIYITDPD FKGFIRISCC QYCKIEFHMN CWKKLKTTTF NDKIDKDFLQ GICLTPDCEG
VISKIIIFSS GGEVKCEFEH KVIKEKVPPR PILKQKCSSL EKLRLKEDKK LKRKIQKKEA
KKLAQERMEE DLRESNPPKN EEQKETVDNV QRCQFLDDRI LQCIKQYADK IKSGIQNTAM
LLKELLSWKV LSTEDYTTCF SSRNFLNEAV DYVIRHLIQE NNRVKTRIFL HVLSELKEVE
PKLAAWIQKL NSFGLDATGT FFSRYGASLK LLDFSIMTFL WNEKYGHKLD SIEGKQLDYF
SEPASLKEAR CLIWLLEEHR DKFPALHSAL DEFFDIMDSR CTVLRKQDSG EAPFSSTKVK
NKSKKKKPKD SKPMLVGSGT TSVTSNNEII TSSEDHSNRN SDSAGPFAVP DHLRQDVEEF
EALYDQHSNE YVVRNKKLWD MNPKQKCSTL YDYFSQFLEE HGPLDMSNKM FSAEYEFFPE
ETRQILEKAG GLKPFLLGCP RFVVIDNCIA LKKVASRLKK KRKKKNIKTK VEEISKAGEY
VRVKLQLNPA AREFKPDVKS KPVSDSSSAP AFENVKPKPV SANSPKPACE DVKAKPVSDN
SSRQVSEDGQ PKGVSSNSPK PGSEDANYKR VSCNSPKPVL EDVKPTYWAQ SHLVTGYCTY
LPFQRFDITQ TPPAYINVLP GLPQYTSIYT PLASLSPEYQ LPRSVPVVPS FVANDRADKN
AAAYFEGHHL NAENVAGHQI ASETQILEGS LGISVKSHCS TGDAHTVLSE SNRNDEHCGN
SNNKCEVIPE STSAVTNIPH VQMVAIQVSW NIIHQEVNTE PYNPFEERQG EISRIEKEHQ
VLQDQLQEVY ENYEQIKLKG LEETRDLEEK LKRHLEENKI SKTELDWFLQ DLEREIKKWQ
QEKKEIQERL KSLKKKIKKV SNASEMYTQK NDGKEKEHEL HLDQSLEISN TLTNEKMKIE
EYIKKGKEDY EESHQRAVAA EVSVLENWKE SEVYKLQIME SQAEAFLKKL GLISRDPAAY
PDMESDIRSW ELFLSNVTKE IEKAKSQFEE QIKAIKNGSR LSELSKVQIS ELSFPACNTV
HPELLPESSG DDGQGLVTSA SDVTGNHAAL HRDPSVFSAG DSPGEAPSAL LPGPPPGQPE
ATQLTGPKRA GQAALSERSP VADRKQPVPP GRAARSSQSP KKPFNSIIEH LSVVFPCYNS
TELAGFIKKV RSKNKNSLSG LSIDEIVQRV TEHILDEQKK KKPNPGKDKR TYEPSSATPV
TRSSQGSPSV VVAPSPKTKG QKAEDVPVRI ALGASSCEIC HEVFKSKNVR VLKCGHKYHK
GCFKQWLKGQ SACPACQGRD LLTEESPSGR GWPSQNQELP SCSSR*

mutated AA sequence

MDNFAEGDFT VADYALLEDC PHVDDCVFAA EFMSNDYVRV TQLYCDGVGV QYKDYIQSER
NLEFDICSIW CSKPISVLQD YCDAIKINIF WPLLFQHQNS SVISRLHPCV DANNSRASEI
NLKKLQHLEL MEDIVDLAKK VANDSFLIGG LLRIGCKIEN KILAMEEALN WIKYAGDVTI
LTKLGSIDNC WPMLSIFFTE YKYHITKIVM EDCNLLEELK TQSCMDCIEE GELMKMKGNE
EFSKERFDIA IIYYTRAIEY RPENYLLYGN RALCFLRTGQ FRNALGDGKR ATILKNTWPK
GHYRYCDALS MLGEYDWALQ ANIKAQKLCK NDPEGIKDLI QQHVKLQKQI EDLQGRTANK
DPIKAFYENR AYTPRSLSAP IFTTSLNFVE KERDFRKINH EMANGGNQNL KVADEALKVD
DCDCHPEFSP PSSQPPKHKG KQKSRNNESE KFSSSSPLTL PADLKNILEK QFSKSSRAAH
QDFANIMKML RSLIQDGYMA LLEQRCRSAA QAFTELLNGL DPQKIKQLNL AMINYVLVVY
GLAISLLGIG QPEELSEAEN QFKRIIEHYP SEGLDCLAYC GIGKVYLKKN RFLEALNHFE
KARTLIYRLP GVLTWPTSNV IIEESQPQKI KMLLEKFVEE CKFPPVPDAI CCYQKCHGYS
KIQIYITDPD FKGFIRISCC QYCKIEFHMN CWKKLKTTTF NDKIDKDFLQ GICLTPDCEG
VISKIIIFSS GGEVKCEFEH KVIKEKVPPR PILKQKCSSL EKLRLKEDKK LKRKIQKKEA
KKLAQERMEE DLRESNPPKN EEQKETVDNV QRCQFLDDRI LQCIKQYADK IKSGIQNTAT
LLKELLSWKV LSTEDYTTCF SSRNFLNEAV DYVIRHLIQE NNRVKTRIFL HVLSELKEVE
PKLAAWIQKL NSFGLDATGT FFSRYGASLK LLDFSIMTFL WNEKYGHKLD SIEGKQLDYF
SEPASLKEAR CLIWLLEEHR DKFPALHSAL DEFFDIMDSR CTVLRKQDSG EAPFSSTKVK
NKSKKKKPKD SKPMLVGSGT TSVTSNNEII TSSEDHSNRN SDSAGPFAVP DHLRQDVEEF
EALYDQHSNE YVVRNKKLWD MNPKQKCSTL YDYFSQFLEE HGPLDMSNKM FSAEYEFFPE
ETRQILEKAG GLKPFLLGCP RFVVIDNCIA LKKVASRLKK KRKKKNIKTK VEEISKAGEY
VRVKLQLNPA AREFKPDVKS KPVSDSSSAP AFENVKPKPV SANSPKPACE DVKAKPVSDN
SSRQVSEDGQ PKGVSSNSPK PGSEDANYKR VSCNSPKPVL EDVKPTYWAQ SHLVTGYCTY
LPFQRFDITQ TPPAYINVLP GLPQYTSIYT PLASLSPEYQ LPRSVPVVPS FVANDRADKN
AAAYFEGHHL NAENVAGHQI ASETQILEGS LGISVKSHCS TGDAHTVLSE SNRNDEHCGN
SNNKCEVIPE STSAVTNIPH VQMVAIQVSW NIIHQEVNTE PYNPFEERQG EISRIEKEHQ
VLQDQLQEVY ENYEQIKLKG LEETRDLEEK LKRHLEENKI SKTELDWFLQ DLEREIKKWQ
QEKKEIQERL KSLKKKIKKV SNASEMYTQK NDGKEKEHEL HLDQSLEISN TLTNEKMKIE
EYIKKGKEDY EESHQRAVAA EVSVLENWKE SEVYKLQIME SQAEAFLKKL GLISRDPAAY
PDMESDIRSW ELFLSNVTKE IEKAKSQFEE QIKAIKNGSR LSELSKVQIS ELSFPACNTV
HPELLPESSG DDGQGLVTSA SDVTGNHAAL HRDPSVFSAG DSPGEAPSAL LPGPPPGQPE
ATQLTGPKRA GQAALSERSP VADRKQPVPP GRAARSSQSP KKPFNSIIEH LSVVFPCYNS
TELAGFIKKV RSKNKNSLSG LSIDEIVQRV TEHILDEQKK KKPNPGKDKR TYEPSSATPV
TRSSQGSPSV VVAPSPKTKG QKAEDVPVRI ALGASSCEIC HEVFKSKNVR VLKCGHKYHK
GCFKQWLKGQ SACPACQGRD LLTEESPSGR GWPSQNQELP SCSSR*

speed

1.02 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: 0.999999231550583 (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)

chr21:38525356T>CN/A show variant in all transcripts IGV

HGNC symbol

TTC3

Ensembl transcript ID

ENST00000354749

Genbank transcript ID

N/A

UniProt peptide

P53804

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2519T>C
cDNA.3987T>C
g.79831T>C

AA changes

M840T Score: 81 explain score(s)

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

840

frameshift

known variant

Reference ID: rs1053808

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1000	1145	2145
ExAC	19209	-5651	13558

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.121	0.953
	-0.103	0.888
(flanking)	0.066	0.894

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	79836	wt: 0.6757 / mu: 0.6843 (marginal change - not scored)	wt: TGCTTCTCAAAGAAT mu: CGCTTCTCAAAGAAT	CTTC\|tcaa
Donor marginally increased	79826	wt: 0.9960 / mu: 0.9974 (marginal change - not scored)	wt: AATACAGCCATGCTT mu: AATACAGCCACGCTT	TACA\|gcca

distance from splice site

106

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

840

mutated

not conserved

840

Ptroglodytes

not conserved

ENSPTRG00000013898

840

Mmulatta

not conserved

ENSMMUG00000017505

839

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000040785

840

Ggallus

not conserved

ENSGALG00000016050

773

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000086075

278

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

6078 / 6078

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

2026 / 2026

position of stopcodon in wt / mu cDNA

7546 / 7546

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

1469 / 1469

chromosome

strand

last intron/exon boundary

7412

theoretical NMD boundary in CDS

5893

length of CDS

6078

coding sequence (CDS) position

2519

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

3987

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

79831

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

38525356

original gDNA sequence snippet

CGGCATACAGAATACAGCCATGCTTCTCAAAGAATTGCTTT

altered gDNA sequence snippet

CGGCATACAGAATACAGCCACGCTTCTCAAAGAATTGCTTT

original cDNA sequence snippet

CGGCATACAGAATACAGCCATGCTTCTCAAAGAATTGCTTT

altered cDNA sequence snippet

CGGCATACAGAATACAGCCACGCTTCTCAAAGAATTGCTTT

wildtype AA sequence

mutated AA sequence

MDNFAEGDFT VADYALLEDC PHVDDCVFAA EFMSNDYVRV TQLYCDGVGV QYKDYIQSER
NLEFDICSIW CSKPISVLQD YCDAIKINIF WPLLFQHQNS SVISRLHPCV DANNSRASEI
NLKKLQHLEL MEDIVDLAKK VANDSFLIGG LLRIGCKIEN KILAMEEALN WIKYAGDVTI
LTKLGSIDNC WPMLSIFFTE YKYHITKIVM EDCNLLEELK TQSCMDCIEE GELMKMKGNE
EFSKERFDIA IIYYTRAIEY RPENYLLYGN RALCFLRTGQ FRNALGDGKR ATILKNTWPK
GHYRYCDALS MLGEYDWALQ ANIKAQKLCK NDPEGIKDLI QQHVKLQKQI EDLQGRTANK
DPIKAFYENR AYTPRSLSAP IFTTSLNFVE KERDFRKINH EMANGGNQNL KVADEALKVD
DCDCHPEFSP PSSQPPKHKG KQKSRNNESE KFSSSSPLTL PADLKNILEK QFSKSSRAAH
QDFANIMKML RSLIQDGYMA LLEQRCRSAA QAFTELLNGL DPQKIKQLNL AMINYVLVVY
GLAISLLGIG QPEELSEAEN QFKRIIEHYP SEGLDCLAYC GIGKVYLKKN RFLEALNHFE
KARTLIYRLP GVLTWPTSNV IIEESQPQKI KMLLEKFVEE CKFPPVPDAI CCYQKCHGYS
KIQIYITDPD FKGFIRISCC QYCKIEFHMN CWKKLKTTTF NDKIDKDFLQ GICLTPDCEG
VISKIIIFSS GGEVKCEFEH KVIKEKVPPR PILKQKCSSL EKLRLKEDKK LKRKIQKKEA
KKLAQERMEE DLRESNPPKN EEQKETVDNV QRCQFLDDRI LQCIKQYADK IKSGIQNTAT
LLKELLSWKV LSTEDYTTCF SSRNFLNEAV DYVIRHLIQE NNRVKTRIFL HVLSELKEVE
PKLAAWIQKL NSFGLDATGT FFSRYGASLK LLDFSIMTFL WNEKYGHKLD SIEGKQLDYF
SEPASLKEAR CLIWLLEEHR DKFPALHSAL DEFFDIMDSR CTVLRKQDSG EAPFSSTKVK
NKSKKKKPKD SKPMLVGSGT TSVTSNNEII TSSEDHSNRN SDSAGPFAVP DHLRQDVEEF
EALYDQHSNE YVVRNKKLWD MNPKQKCSTL YDYFSQFLEE HGPLDMSNKM FSAEYEFFPE
ETRQILEKAG GLKPFLLGCP RFVVIDNCIA LKKVASRLKK KRKKKNIKTK VEEISKAGEY
VRVKLQLNPA AREFKPDVKS KPVSDSSSAP AFENVKPKPV SANSPKPACE DVKAKPVSDN
SSRQVSEDGQ PKGVSSNSPK PGSEDANYKR VSCNSPKPVL EDVKPTYWAQ SHLVTGYCTY
LPFQRFDITQ TPPAYINVLP GLPQYTSIYT PLASLSPEYQ LPRSVPVVPS FVANDRADKN
AAAYFEGHHL NAENVAGHQI ASETQILEGS LGISVKSHCS TGDAHTVLSE SNRNDEHCGN
SNNKCEVIPE STSAVTNIPH VQMVAIQVSW NIIHQEVNTE PYNPFEERQG EISRIEKEHQ
VLQDQLQEVY ENYEQIKLKG LEETRDLEEK LKRHLEENKI SKTELDWFLQ DLEREIKKWQ
QEKKEIQERL KSLKKKIKKV SNASEMYTQK NDGKEKEHEL HLDQSLEISN TLTNEKMKIE
EYIKKGKEDY EESHQRAVAA EVSVLENWKE SEVYKLQIME SQAEAFLKKL GLISRDPAAY
PDMESDIRSW ELFLSNVTKE IEKAKSQFEE QIKAIKNGSR LSELSKVQIS ELSFPACNTV
HPELLPESSG DDGQGLVTSA SDVTGNHAAL HRDPSVFSAG DSPGEAPSAL LPGPPPGQPE
ATQLTGPKRA GQAALSERSP VADRKQPVPP GRAARSSQSP KKPFNSIIEH LSVVFPCYNS
TELAGFIKKV RSKNKNSLSG LSIDEIVQRV TEHILDEQKK KKPNPGKDKR TYEPSSATPV
TRSSQGSPSV VVAPSPKTKG QKAEDVPVRI ALGASSCEIC HEVFKSKNVR VLKCGHKYHK
GCFKQWLKGQ SACPACQGRD LLTEESPSGR GWPSQNQELP SCSSR*

speed

1.29 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999231550583 (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)

chr21:38525356T>CN/A show variant in all transcripts IGV

HGNC symbol

TTC3

Ensembl transcript ID

ENST00000355666

Genbank transcript ID

NM_001001894

UniProt peptide

P53804

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2519T>C
cDNA.2624T>C
g.79831T>C

AA changes

M840T Score: 81 explain score(s)

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

840

frameshift

known variant

Reference ID: rs1053808

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1000	1145	2145
ExAC	19209	-5651	13558

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.121	0.953
	-0.103	0.888
(flanking)	0.066	0.894

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	79836	wt: 0.6757 / mu: 0.6843 (marginal change - not scored)	wt: TGCTTCTCAAAGAAT mu: CGCTTCTCAAAGAAT	CTTC\|tcaa
Donor marginally increased	79826	wt: 0.9960 / mu: 0.9974 (marginal change - not scored)	wt: AATACAGCCATGCTT mu: AATACAGCCACGCTT	TACA\|gcca

distance from splice site

106

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

840

mutated

not conserved

840

Ptroglodytes

not conserved

ENSPTRG00000013898

840

Mmulatta

not conserved

ENSMMUG00000017505

839

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000040785

840

Ggallus

not conserved

ENSGALG00000016050

773

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000086075

278

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

6078 / 6078

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

2026 / 2026

position of stopcodon in wt / mu cDNA

6183 / 6183

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

106 / 106

chromosome

strand

last intron/exon boundary

6049

theoretical NMD boundary in CDS

5893

length of CDS

6078

coding sequence (CDS) position

2519

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

2624

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

79831

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

38525356

original gDNA sequence snippet

CGGCATACAGAATACAGCCATGCTTCTCAAAGAATTGCTTT

altered gDNA sequence snippet

CGGCATACAGAATACAGCCACGCTTCTCAAAGAATTGCTTT

original cDNA sequence snippet

CGGCATACAGAATACAGCCATGCTTCTCAAAGAATTGCTTT

altered cDNA sequence snippet

CGGCATACAGAATACAGCCACGCTTCTCAAAGAATTGCTTT

wildtype AA sequence

mutated AA sequence

MDNFAEGDFT VADYALLEDC PHVDDCVFAA EFMSNDYVRV TQLYCDGVGV QYKDYIQSER
NLEFDICSIW CSKPISVLQD YCDAIKINIF WPLLFQHQNS SVISRLHPCV DANNSRASEI
NLKKLQHLEL MEDIVDLAKK VANDSFLIGG LLRIGCKIEN KILAMEEALN WIKYAGDVTI
LTKLGSIDNC WPMLSIFFTE YKYHITKIVM EDCNLLEELK TQSCMDCIEE GELMKMKGNE
EFSKERFDIA IIYYTRAIEY RPENYLLYGN RALCFLRTGQ FRNALGDGKR ATILKNTWPK
GHYRYCDALS MLGEYDWALQ ANIKAQKLCK NDPEGIKDLI QQHVKLQKQI EDLQGRTANK
DPIKAFYENR AYTPRSLSAP IFTTSLNFVE KERDFRKINH EMANGGNQNL KVADEALKVD
DCDCHPEFSP PSSQPPKHKG KQKSRNNESE KFSSSSPLTL PADLKNILEK QFSKSSRAAH
QDFANIMKML RSLIQDGYMA LLEQRCRSAA QAFTELLNGL DPQKIKQLNL AMINYVLVVY
GLAISLLGIG QPEELSEAEN QFKRIIEHYP SEGLDCLAYC GIGKVYLKKN RFLEALNHFE
KARTLIYRLP GVLTWPTSNV IIEESQPQKI KMLLEKFVEE CKFPPVPDAI CCYQKCHGYS
KIQIYITDPD FKGFIRISCC QYCKIEFHMN CWKKLKTTTF NDKIDKDFLQ GICLTPDCEG
VISKIIIFSS GGEVKCEFEH KVIKEKVPPR PILKQKCSSL EKLRLKEDKK LKRKIQKKEA
KKLAQERMEE DLRESNPPKN EEQKETVDNV QRCQFLDDRI LQCIKQYADK IKSGIQNTAT
LLKELLSWKV LSTEDYTTCF SSRNFLNEAV DYVIRHLIQE NNRVKTRIFL HVLSELKEVE
PKLAAWIQKL NSFGLDATGT FFSRYGASLK LLDFSIMTFL WNEKYGHKLD SIEGKQLDYF
SEPASLKEAR CLIWLLEEHR DKFPALHSAL DEFFDIMDSR CTVLRKQDSG EAPFSSTKVK
NKSKKKKPKD SKPMLVGSGT TSVTSNNEII TSSEDHSNRN SDSAGPFAVP DHLRQDVEEF
EALYDQHSNE YVVRNKKLWD MNPKQKCSTL YDYFSQFLEE HGPLDMSNKM FSAEYEFFPE
ETRQILEKAG GLKPFLLGCP RFVVIDNCIA LKKVASRLKK KRKKKNIKTK VEEISKAGEY
VRVKLQLNPA AREFKPDVKS KPVSDSSSAP AFENVKPKPV SANSPKPACE DVKAKPVSDN
SSRQVSEDGQ PKGVSSNSPK PGSEDANYKR VSCNSPKPVL EDVKPTYWAQ SHLVTGYCTY
LPFQRFDITQ TPPAYINVLP GLPQYTSIYT PLASLSPEYQ LPRSVPVVPS FVANDRADKN
AAAYFEGHHL NAENVAGHQI ASETQILEGS LGISVKSHCS TGDAHTVLSE SNRNDEHCGN
SNNKCEVIPE STSAVTNIPH VQMVAIQVSW NIIHQEVNTE PYNPFEERQG EISRIEKEHQ
VLQDQLQEVY ENYEQIKLKG LEETRDLEEK LKRHLEENKI SKTELDWFLQ DLEREIKKWQ
QEKKEIQERL KSLKKKIKKV SNASEMYTQK NDGKEKEHEL HLDQSLEISN TLTNEKMKIE
EYIKKGKEDY EESHQRAVAA EVSVLENWKE SEVYKLQIME SQAEAFLKKL GLISRDPAAY
PDMESDIRSW ELFLSNVTKE IEKAKSQFEE QIKAIKNGSR LSELSKVQIS ELSFPACNTV
HPELLPESSG DDGQGLVTSA SDVTGNHAAL HRDPSVFSAG DSPGEAPSAL LPGPPPGQPE
ATQLTGPKRA GQAALSERSP VADRKQPVPP GRAARSSQSP KKPFNSIIEH LSVVFPCYNS
TELAGFIKKV RSKNKNSLSG LSIDEIVQRV TEHILDEQKK KKPNPGKDKR TYEPSSATPV
TRSSQGSPSV VVAPSPKTKG QKAEDVPVRI ALGASSCEIC HEVFKSKNVR VLKCGHKYHK
GCFKQWLKGQ SACPACQGRD LLTEESPSGR GWPSQNQELP SCSSR*

speed

0.40 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999231550583 (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)

chr21:38525356T>CN/A show variant in all transcripts IGV

HGNC symbol

TTC3

Ensembl transcript ID

ENST00000540756

Genbank transcript ID

N/A

UniProt peptide

P53804

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1589T>C
cDNA.1758T>C
g.79831T>C

AA changes

M530T Score: 81 explain score(s)

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

530

frameshift

known variant

Reference ID: rs1053808

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1000	1145	2145
ExAC	19209	-5651	13558

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.121	0.953
	-0.103	0.888
(flanking)	0.066	0.894

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	79836	wt: 0.6757 / mu: 0.6843 (marginal change - not scored)	wt: TGCTTCTCAAAGAAT mu: CGCTTCTCAAAGAAT	CTTC\|tcaa
Donor marginally increased	79826	wt: 0.9960 / mu: 0.9974 (marginal change - not scored)	wt: AATACAGCCATGCTT mu: AATACAGCCACGCTT	TACA\|gcca

distance from splice site

106

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

530

mutated

not conserved

530

Ptroglodytes

not conserved

ENSPTRG00000013898

840

Mmulatta

not conserved

ENSMMUG00000017505

839

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000040785

840

Ggallus

not conserved

ENSGALG00000016050

782

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000086075

278

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1839 / 1839

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

613 / 613

position of stopcodon in wt / mu cDNA

2008 / 2008

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

170 / 170

chromosome

strand

last intron/exon boundary

1653

theoretical NMD boundary in CDS

1433

length of CDS

1839

coding sequence (CDS) position

1589

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

1758

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

79831

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

38525356

original gDNA sequence snippet

CGGCATACAGAATACAGCCATGCTTCTCAAAGAATTGCTTT

altered gDNA sequence snippet

CGGCATACAGAATACAGCCACGCTTCTCAAAGAATTGCTTT

original cDNA sequence snippet

CGGCATACAGAATACAGCCATGCTTCTCAAAGAATTGCTTT

altered cDNA sequence snippet

CGGCATACAGAATACAGCCACGCTTCTCAAAGAATTGCTTT

wildtype AA sequence

MLGEYDWALQ ANIKAQKLCK NDPEGIKDLI QQHVKLQKQI EDLQGRTANK DPIKAFYENR
AYTPRSLSAP IFTTSLNFVE KERDFRKINH EMANGGNQNL KVADEALKVD DCDCHPEFSP
PSSQPPKHKG KQKSRNNESE KFSSSSPLTL PADLKNILEK QFSKSSRAAH QDFANIMKML
RSLIQDGYMA LLEQRCRSAA QAFTELLNGL DPQKIKQLNL AMINYVLVVY GLAISLLGIG
QPEELSEAEN QFKRIIEHYP SEGLDCLAYC GIGKVYLKKN RFLEALNHFE KARTLIYRLP
GVLTWPTSNV IIEESQPQKI KMLLEKFVEE CKFPPVPDAI CCYQKCHGYS KIQIYITDPD
FKGFIRISCC QYCKIEFHMN CWKKLKTTTF NDKIDKDFLQ GICLTPDCEG VISKIIIFSS
GGEVKCEFEH KVIKEKVPPR PILKQKCSSL EKLRLKEDKK LKRKIQKKEA KKLAQERMEE
DLRESNPPKN EEQKETVDNV QRCQFLDDRI LQCIKQYADK IKSGIQNTAM LLKELLSWKV
LSTEDYTTCF SSRNFLNEAV DYVIRHLIQE NNRVKTRIFL HVLSELKEVE PKLAAWIQKL
NSFGMSLYIP EQ*

mutated AA sequence

MLGEYDWALQ ANIKAQKLCK NDPEGIKDLI QQHVKLQKQI EDLQGRTANK DPIKAFYENR
AYTPRSLSAP IFTTSLNFVE KERDFRKINH EMANGGNQNL KVADEALKVD DCDCHPEFSP
PSSQPPKHKG KQKSRNNESE KFSSSSPLTL PADLKNILEK QFSKSSRAAH QDFANIMKML
RSLIQDGYMA LLEQRCRSAA QAFTELLNGL DPQKIKQLNL AMINYVLVVY GLAISLLGIG
QPEELSEAEN QFKRIIEHYP SEGLDCLAYC GIGKVYLKKN RFLEALNHFE KARTLIYRLP
GVLTWPTSNV IIEESQPQKI KMLLEKFVEE CKFPPVPDAI CCYQKCHGYS KIQIYITDPD
FKGFIRISCC QYCKIEFHMN CWKKLKTTTF NDKIDKDFLQ GICLTPDCEG VISKIIIFSS
GGEVKCEFEH KVIKEKVPPR PILKQKCSSL EKLRLKEDKK LKRKIQKKEA KKLAQERMEE
DLRESNPPKN EEQKETVDNV QRCQFLDDRI LQCIKQYADK IKSGIQNTAT LLKELLSWKV
LSTEDYTTCF SSRNFLNEAV DYVIRHLIQE NNRVKTRIFL HVLSELKEVE PKLAAWIQKL
NSFGMSLYIP EQ*

speed

0.38 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