MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000239462
MT speed 0 s - this script 3.0506 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
TNN	polymorphism_automatic	1.19904086659517e-14	simple_aae				W807R	single base exchange	rs6696455		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999988 (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)

chr1:175087729T>CN/A show variant in all transcripts IGV

HGNC symbol

TNN

Ensembl transcript ID

ENST00000239462

Genbank transcript ID

NM_022093

UniProt peptide

Q9UQP3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2419T>C
cDNA.2532T>C
g.50736T>C

AA changes

W807R Score: 101 explain score(s)

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

807

frameshift

known variant

Reference ID: rs6696455

database	homozygous (C/C)	heterozygous	allele carriers
1000G	776	818	1594
ExAC	12456	7855	20311

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.148	0
	0.12	0
(flanking)	-0.55	0

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

807

mutated

not conserved

807

Ptroglodytes

not conserved

ENSPTRG00000001707

807

Mmulatta

no homologue

Fcatus

not conserved

ENSFCAG00000008594

841

Mmusculus

not conserved

ENSMUSG00000026725

805

Ggallus

not conserved

ENSGALG00000004538

543

Trubripes

not conserved

ENSTRUG00000002590

800

Drerio

not conserved

ENSDARG00000024829

444

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
796	883	DOMAIN	Fibronectin type-III 7.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3900 / 3900

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

1300 / 1300

position of stopcodon in wt / mu cDNA

4013 / 4013

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

114 / 114

chromosome

strand

last intron/exon boundary

3873

theoretical NMD boundary in CDS

3709

length of CDS

3900

coding sequence (CDS) position

2419

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

2532

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

50736

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

175087729

original gDNA sequence snippet

CCCAAAACCTGGTCACTGACTGGGTGACAGAGAATACAGCC

altered gDNA sequence snippet

CCCAAAACCTGGTCACTGACCGGGTGACAGAGAATACAGCC

original cDNA sequence snippet

CCCAAAACCTGGTCACTGACTGGGTGACAGAGAATACAGCC

altered cDNA sequence snippet

CCCAAAACCTGGTCACTGACCGGGTGACAGAGAATACAGCC

wildtype AA sequence

MSLQEMFRFP MGLLLGSVLL VASAPATLEP PGCSNKEQQV TVSHTYKIDV PKSALVQVDA
DPQPLSDDGA SLLALGEARE EQNIIFRHNI RLQTPQKDCE LAGSVQDLLA RVKKLEEEMV
EMKEQCSAQR CCQGVTDLSR HCSGHGTFSL ETCSCHCEEG REGPACERLA CPGACSGHGR
CVDGRCLCHE PYVGADCGYP ACPENCSGHG ECVRGVCQCH EDFMSEDCSE KRCPGDCSGH
GFCDTGECYC EEGFTGLDCA QVVTPQGLQL LKNTEDSLLV SWEPSSQVDH YLLSYYPLGK
ELSGKQIQVP KEQHSYEILG LLPGTKYIVT LRNVKNEVSS SPQHLLATTD LAVLGTAWVT
DETENSLDVE WENPSTEVDY YKLRYGPMTG QEVAEVTVPK SSDPKSRYDI TGLHPGTEYK
ITVVPMRGEL EGKPILLNGR TEIDSPTNVV TDRVTEDTAT VSWDPVQAVI DKYVVRYTSA
DGDTKEMAVH KDESSTVLTG LKPGEAYKVY VWAERGNQGS KKADTNALTE IDSPANLVTD
RVTENTATIS WDPVQATIDK YVVRYTSADD QETREVLVGK EQSSTVLTGL RPGVEYTVHV
WAQKGDRESK KADTNAPTDI DSPKNLVTDR VTENMATVSW DPVQAAIDKY VVRYTSAGGE
TREVPVGKEQ SSTVLTGLRP GMEYMVHVWA QKGDQESKKA DTKAQTDIDS PQNLVTDRVT
ENMATVSWDP VRATIDRYVV RYTSAKDGET REVPVGKEQS STVLTGLRPG VEYTVHVWAQ
KGAQESKKAD TKAQTDIDSP QNLVTDWVTE NTATVSWDPV QATIDRYVVH YTSANGETRE
VPVGKEQSST VLTGLRPGME YTVHVWAQKG NQESKKADTK AQTEIDGPKN LVTDWVTENM
ATVSWDPVQA TIDKYMVRYT SADGETREVP VGKEHSSTVL TGLRPGMEYM VHVWAQKGAQ
ESKKADTKAQ TELDPPRNLR PSAVTQSGGI LTWTPPSAQI HGYILTYQFP DGTVKEMQLG
REDQRFALQG LEQGATYPVS LVAFKGGRRS RNVSTTLSTV GARFPHPSDC SQVQQNSNAA
SGLYTIYLHG DASRPLQVYC DMETDGGGWI VFQRRNTGQL DFFKRWRSYV EGFGDPMKEF
WLGLDKLHNL TTGTPARYEV RVDLQTANES AYAIYDFFQV ASSKERYKLT VGKYRGTAGD
ALTYHNGWKF TTFDRDNDIA LSNCALTHHG GWWYKNCHLA NPNGRYGETK HSEGVNWEPW
KGHEFSIPYV ELKIRPHGYS REPVLGRKKR TLRGRLRTF*

mutated AA sequence

MSLQEMFRFP MGLLLGSVLL VASAPATLEP PGCSNKEQQV TVSHTYKIDV PKSALVQVDA
DPQPLSDDGA SLLALGEARE EQNIIFRHNI RLQTPQKDCE LAGSVQDLLA RVKKLEEEMV
EMKEQCSAQR CCQGVTDLSR HCSGHGTFSL ETCSCHCEEG REGPACERLA CPGACSGHGR
CVDGRCLCHE PYVGADCGYP ACPENCSGHG ECVRGVCQCH EDFMSEDCSE KRCPGDCSGH
GFCDTGECYC EEGFTGLDCA QVVTPQGLQL LKNTEDSLLV SWEPSSQVDH YLLSYYPLGK
ELSGKQIQVP KEQHSYEILG LLPGTKYIVT LRNVKNEVSS SPQHLLATTD LAVLGTAWVT
DETENSLDVE WENPSTEVDY YKLRYGPMTG QEVAEVTVPK SSDPKSRYDI TGLHPGTEYK
ITVVPMRGEL EGKPILLNGR TEIDSPTNVV TDRVTEDTAT VSWDPVQAVI DKYVVRYTSA
DGDTKEMAVH KDESSTVLTG LKPGEAYKVY VWAERGNQGS KKADTNALTE IDSPANLVTD
RVTENTATIS WDPVQATIDK YVVRYTSADD QETREVLVGK EQSSTVLTGL RPGVEYTVHV
WAQKGDRESK KADTNAPTDI DSPKNLVTDR VTENMATVSW DPVQAAIDKY VVRYTSAGGE
TREVPVGKEQ SSTVLTGLRP GMEYMVHVWA QKGDQESKKA DTKAQTDIDS PQNLVTDRVT
ENMATVSWDP VRATIDRYVV RYTSAKDGET REVPVGKEQS STVLTGLRPG VEYTVHVWAQ
KGAQESKKAD TKAQTDIDSP QNLVTDRVTE NTATVSWDPV QATIDRYVVH YTSANGETRE
VPVGKEQSST VLTGLRPGME YTVHVWAQKG NQESKKADTK AQTEIDGPKN LVTDWVTENM
ATVSWDPVQA TIDKYMVRYT SADGETREVP VGKEHSSTVL TGLRPGMEYM VHVWAQKGAQ
ESKKADTKAQ TELDPPRNLR PSAVTQSGGI LTWTPPSAQI HGYILTYQFP DGTVKEMQLG
REDQRFALQG LEQGATYPVS LVAFKGGRRS RNVSTTLSTV GARFPHPSDC SQVQQNSNAA
SGLYTIYLHG DASRPLQVYC DMETDGGGWI VFQRRNTGQL DFFKRWRSYV EGFGDPMKEF
WLGLDKLHNL TTGTPARYEV RVDLQTANES AYAIYDFFQV ASSKERYKLT VGKYRGTAGD
ALTYHNGWKF TTFDRDNDIA LSNCALTHHG GWWYKNCHLA NPNGRYGETK HSEGVNWEPW
KGHEFSIPYV ELKIRPHGYS REPVLGRKKR TLRGRLRTF*

speed

0.98 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

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

Problems