MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 2 transcript(s)...
Querying Taster for transcript #1: ENST00000266182
Querying Taster for transcript #2: ENST00000440475
MT speed 0 s - this script 4.135802 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
TTLL8	polymorphism_automatic	3.29409832744432e-11	simple_aae				E258K	single base exchange	rs9628315		show file
TTLL8	polymorphism_automatic	3.29409832744432e-11	simple_aae				E258K	single base exchange	rs9628315		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999967059 (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)

chr22:50480108C>TN/A show variant in all transcripts IGV

HGNC symbol

TTLL8

Ensembl transcript ID

ENST00000266182

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

CDS

DNA changes

c.772G>A
cDNA.772G>A
g.15257G>A

AA changes

E258K Score: 56 explain score(s)

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

258

frameshift

known variant

Reference ID: rs9628315

database	homozygous (T/T)	heterozygous	allele carriers
1000G	400	1215	1615
ExAC	11804	9159	20963

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.84	0.007
	-0.432	0
(flanking)	-1.433	0

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	15253	wt: 0.9915 / mu: 0.9987 (marginal change - not scored)	wt: GATGCCGTGGAGGAC mu: GATGCCGTGAAGGAC	TGCC\|gtgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

258

mutated

all conserved

258

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000022388

337

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0031854

358

Celegans

no homologue

Xtropicalis

no homologue

protein features

N/A

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2505 / 2505

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

835 / 835

position of stopcodon in wt / mu cDNA

2505 / 2505

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

1 / 1

chromosome

strand

-1

last intron/exon boundary

2345

theoretical NMD boundary in CDS

2294

length of CDS

2505

coding sequence (CDS) position

772

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

772

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

15257

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

50480108

original gDNA sequence snippet

ACACGTCAGCAGATGCCGTGGAGGACCTCACTGAGGCCGAG

altered gDNA sequence snippet

ACACGTCAGCAGATGCCGTGAAGGACCTCACTGAGGCCGAG

original cDNA sequence snippet

ACACGTCAGCAGATGCCGTGGAGGACCTCACTGAGGCCGAG

altered cDNA sequence snippet

ACACGTCAGCAGATGCCGTGAAGGACCTCACTGAGGCCGAG

wildtype AA sequence

MRLLDGKQTS RYSENACEKK IFSIYGHYPV VRAALRRKGW VEKKFHFLPK VIPDVEDEGA
RVNDDTCAKV KENQEMALEK TDNIHDVMSR LVKNEMPYLL WTIKRDIIDY HSLTYDQMLN
HYAKTASFTT KIGLCVNMRS LPWYVPANPD SFFPRCYSLC TESEQQEFLE DFRRTMASSI
LKWVVSHQSC SRSSRSKPRD QREEAGSSDL SSRQDAENAE AKLRGLPGQL VDIACKVCQA
YLGQLEHEDI DTSADAVEDL TEAEWEDLTQ QYYSLVQVPL GSSIVLCIFK IQKVMMSFEP
PTARDRQCQA LLNRITSVNP QTDIDGLRNI WIIKPAAKSR GRGESPDIVC MDRVEEILEL
AAADHPLSRD NKWVVQKYIE TPLLICDTKF DIRQWFLVTD WNPLTIWFYK ESYLRFSTQR
FSLDKLDSAI HLCNNAVQKY LKNDVGRSPL LPAHNMWTST RFQEYLQRQG RGAVWGSVIY
PSMKKAIAHA MKVAQDHVEP RKNSFELYGA DFVLGRDFRP WLIEINSSPT MHPSTPVTAQ
LCAQVQEDTI KVAVDRSCDI GNFELLWRQP VVEPPPFSGS DLCVAGVSVR RARRQVLPVC
NLKASASLLD AQPLKARGPS AMPDPAQGPP SPALQRDLGL KEEKGLPLAL LAPLRGAAES
GGAAQPTRTK AAGKVELPAC PCRHVDSQAP NTGVPVAQPA KSWDPNQLNA HPLEPVLRGL
KTAEGALRPP PGGKGEGTVC SRLPHHGHHV AACQTTGTTW DGGPGVCFLR QLLASELPMG
PGLPRDPRAP PCLVCRGLLP PAGPCKRCRS FCAAVLQGAS FVRLGGRSCS PRTP*

mutated AA sequence

MRLLDGKQTS RYSENACEKK IFSIYGHYPV VRAALRRKGW VEKKFHFLPK VIPDVEDEGA
RVNDDTCAKV KENQEMALEK TDNIHDVMSR LVKNEMPYLL WTIKRDIIDY HSLTYDQMLN
HYAKTASFTT KIGLCVNMRS LPWYVPANPD SFFPRCYSLC TESEQQEFLE DFRRTMASSI
LKWVVSHQSC SRSSRSKPRD QREEAGSSDL SSRQDAENAE AKLRGLPGQL VDIACKVCQA
YLGQLEHEDI DTSADAVKDL TEAEWEDLTQ QYYSLVQVPL GSSIVLCIFK IQKVMMSFEP
PTARDRQCQA LLNRITSVNP QTDIDGLRNI WIIKPAAKSR GRGESPDIVC MDRVEEILEL
AAADHPLSRD NKWVVQKYIE TPLLICDTKF DIRQWFLVTD WNPLTIWFYK ESYLRFSTQR
FSLDKLDSAI HLCNNAVQKY LKNDVGRSPL LPAHNMWTST RFQEYLQRQG RGAVWGSVIY
PSMKKAIAHA MKVAQDHVEP RKNSFELYGA DFVLGRDFRP WLIEINSSPT MHPSTPVTAQ
LCAQVQEDTI KVAVDRSCDI GNFELLWRQP VVEPPPFSGS DLCVAGVSVR RARRQVLPVC
NLKASASLLD AQPLKARGPS AMPDPAQGPP SPALQRDLGL KEEKGLPLAL LAPLRGAAES
GGAAQPTRTK AAGKVELPAC PCRHVDSQAP NTGVPVAQPA KSWDPNQLNA HPLEPVLRGL
KTAEGALRPP PGGKGEGTVC SRLPHHGHHV AACQTTGTTW DGGPGVCFLR QLLASELPMG
PGLPRDPRAP PCLVCRGLLP PAGPCKRCRS FCAAVLQGAS FVRLGGRSCS PRTP*

speed

1.35 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: 0.999999999967059 (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)

chr22:50480108C>TN/A show variant in all transcripts IGV

HGNC symbol

TTLL8

Ensembl transcript ID

ENST00000440475

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

CDS

DNA changes

c.772G>A
cDNA.772G>A
g.15257G>A

AA changes

E258K Score: 56 explain score(s)

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

258

frameshift

known variant

Reference ID: rs9628315

database	homozygous (T/T)	heterozygous	allele carriers
1000G	400	1215	1615
ExAC	11804	9159	20963

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.84	0.007
	-0.432	0
(flanking)	-1.433	0

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	15253	wt: 0.9915 / mu: 0.9987 (marginal change - not scored)	wt: GATGCCGTGGAGGAC mu: GATGCCGTGAAGGAC	TGCC\|gtgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

258

mutated

all conserved

258

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000022388

337

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0031854

358

Celegans

no homologue

Xtropicalis

no homologue

protein features

N/A

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2445 / 2445

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

815 / 815

position of stopcodon in wt / mu cDNA

2445 / 2445

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

1 / 1

chromosome

strand

-1

last intron/exon boundary

2285

theoretical NMD boundary in CDS

2234

length of CDS

2445

coding sequence (CDS) position

772

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

772

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

15257

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

50480108

original gDNA sequence snippet

ACACGTCAGCAGATGCCGTGGAGGACCTCACTGAGGCCGAG

altered gDNA sequence snippet

ACACGTCAGCAGATGCCGTGAAGGACCTCACTGAGGCCGAG

original cDNA sequence snippet

ACACGTCAGCAGATGCCGTGGAGGACCTCACTGAGGCCGAG

altered cDNA sequence snippet

ACACGTCAGCAGATGCCGTGAAGGACCTCACTGAGGCCGAG

wildtype AA sequence

MRLLDGKQTS RYSENACEKK IFSIYGHYPV VRAALRRKGW VEKKFHFLPK VIPDVEDEGA
RVNDDTCAKV KENQEMALEK TDNIHDVMSR LVKNEMPYLL WTIKRDIIDY HSLTYDQMLN
HYAKTASFTT KIGLCVNMRS LPWYVPANPD SFFPRCYSLC TESEQQEFLE DFRRTMASSI
LKWVVSHQSC SRSSRSKPRD QREEAGSSDL SSRQDAENAE AKLRGLPGQL VDIACKVCQA
YLGQLEHEDI DTSADAVEDL TEAEWEDLTQ QYYSLVHGDA FISNSRNYFS QCQALLNRIT
SVNPQTDIDG LRNIWIIKPA AKSRGRDIVC MDRVEEILEL AAADHPLSRD NKWVVQKYIE
TPLLICDTKF DIRQWFLVTD WNPLTIWFYK ESYLRFSTQR FSLDKLDSAI HLCNNAVQKY
LKNDVGRSPL LPAHNMWTST RFQEYLQRQG RGAVWGSVIY PSMKKAIAHA MKVAQDHVEP
RKNSFELYGA DFVLGRDFRP WLIEINSSPT MHPSTPVTAQ LCAQVQEDTI KVAVDRSCDI
GNFELLWRQP VVEPPPFSGS DLCVAGVSVR RARRQVLPVC NLKASASLLD AQPLKARGPS
AMPDPAQGPP SPALQRDLGL KEEKGLPLAL LAPLRGAAES GGAAQPTRTK AAGKVELPAC
PCRHVDSQAP NTGVPVAQPA KSWDPNQLNA HPLEPVLRGL KTAEGALRPP PGGKGEGTVC
SRLPHHGHHV AACQTTGTTW DGGPGVCFLR QLLASELPMG PGLPRDPRAP PCLVCRGLLP
PAGPCKRCRS FCAAVLQGAS FVRLGGRSCS PRTP*

mutated AA sequence

MRLLDGKQTS RYSENACEKK IFSIYGHYPV VRAALRRKGW VEKKFHFLPK VIPDVEDEGA
RVNDDTCAKV KENQEMALEK TDNIHDVMSR LVKNEMPYLL WTIKRDIIDY HSLTYDQMLN
HYAKTASFTT KIGLCVNMRS LPWYVPANPD SFFPRCYSLC TESEQQEFLE DFRRTMASSI
LKWVVSHQSC SRSSRSKPRD QREEAGSSDL SSRQDAENAE AKLRGLPGQL VDIACKVCQA
YLGQLEHEDI DTSADAVKDL TEAEWEDLTQ QYYSLVHGDA FISNSRNYFS QCQALLNRIT
SVNPQTDIDG LRNIWIIKPA AKSRGRDIVC MDRVEEILEL AAADHPLSRD NKWVVQKYIE
TPLLICDTKF DIRQWFLVTD WNPLTIWFYK ESYLRFSTQR FSLDKLDSAI HLCNNAVQKY
LKNDVGRSPL LPAHNMWTST RFQEYLQRQG RGAVWGSVIY PSMKKAIAHA MKVAQDHVEP
RKNSFELYGA DFVLGRDFRP WLIEINSSPT MHPSTPVTAQ LCAQVQEDTI KVAVDRSCDI
GNFELLWRQP VVEPPPFSGS DLCVAGVSVR RARRQVLPVC NLKASASLLD AQPLKARGPS
AMPDPAQGPP SPALQRDLGL KEEKGLPLAL LAPLRGAAES GGAAQPTRTK AAGKVELPAC
PCRHVDSQAP NTGVPVAQPA KSWDPNQLNA HPLEPVLRGL KTAEGALRPP PGGKGEGTVC
SRLPHHGHHV AACQTTGTTW DGGPGVCFLR QLLASELPMG PGLPRDPRAP PCLVCRGLLP
PAGPCKRCRS FCAAVLQGAS FVRLGGRSCS PRTP*

speed

0.83 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems