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: ENST00000200457
MT speed 0 s - this script 2.419636 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
TRIP6	polymorphism_automatic	0.00123878964292801	simple_aae				V230I	single base exchange	rs2075756		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.998761210357072 (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)

chr7:100466441G>AN/A show variant in all transcripts IGV

HGNC symbol

TRIP6

Ensembl transcript ID

ENST00000200457

Genbank transcript ID

NM_003302

UniProt peptide

Q15654

alteration type

single base exchange

alteration region

CDS

DNA changes

c.688G>A
cDNA.1048G>A
g.1682G>A

AA changes

V230I Score: 29 explain score(s)

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

230

frameshift

known variant

Reference ID: rs2075756

database	homozygous (A/A)	heterozygous	allele carriers
1000G	261	838	1099
ExAC	5241	21099	26340

regulatory features

Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
ZBTB7A, Transcription Factor, ZBTB7A Transcription Factor Binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.586	0.561
	2.139	0.547
(flanking)	-0.057	0.104

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

230

mutated

all conserved

230

Ptroglodytes

all identical

ENSPTRG00000019510

230

Mmulatta

all identical

ENSMMUG00000021252

230

Fcatus

not conserved

ENSFCAG00000006854

232

Mmusculus

all identical

ENSMUSG00000023348

234

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000013176

231

Drerio

not conserved

ENSDARG00000069331

300

EPHG

RAS

Dmelanogaster

no alignment

FBgn0011642

n/a

Celegans

not conserved

F42G4.3

114

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1431 / 1431

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

477 / 477

position of stopcodon in wt / mu cDNA

1791 / 1791

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

361 / 361

chromosome

strand

last intron/exon boundary

1660

theoretical NMD boundary in CDS

1249

length of CDS

1431

coding sequence (CDS) position

688

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

1048

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

1682

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

100466441

original gDNA sequence snippet

CCAAAGAGGAAGCTGCTGGGGTCTCTGGCCCTGCAGGAAGA

altered gDNA sequence snippet

CCAAAGAGGAAGCTGCTGGGATCTCTGGCCCTGCAGGAAGA

original cDNA sequence snippet

CCAAAGAGGAAGCTGCTGGGGTCTCTGGCCCTGCAGGAAGA

altered cDNA sequence snippet

CCAAAGAGGAAGCTGCTGGGATCTCTGGCCCTGCAGGAAGA

wildtype AA sequence

MSGPTWLPPK QPEPARAPQG RAIPRGTPGP PPAHGAALQP HPRVNFCPLP SEQCYQAPGG
PEDRGPAWVG SHGVLQHTQG LPADRGGLRP GSLDAEIDLL SSTLAELNGG RGHASRRPDR
QAYEPPPPPA YRTGSLKPNP ASPLPASPYG GPTPASYTTA STPAGPAFPV QVKVAQPVRG
CGPPRRGASQ ASGPLPGPHF PLPGRGEVWG PGYRSQREPG PGAKEEAAGV SGPAGRGRGG
EHGPQVPLSQ PPEDELDRLT KKLVHDMNHP PSGEYFGQCG GCGEDVVGDG AGVVALDRVF
HVGCFVCSTC RAQLRGQHFY AVERRAYCEG CYVATLEKCA TCSQPILDRI LRAMGKAYHP
GCFTCVVCHR GLDGIPFTVD ATSQIHCIED FHRKFAPRCS VCGGAIMPEP GQEETVRIVA
LDRSFHIGCY KCEECGLLLS SEGECQGCYP LDGHILCKAC SAWRIQELSA TVTTDC*

mutated AA sequence

MSGPTWLPPK QPEPARAPQG RAIPRGTPGP PPAHGAALQP HPRVNFCPLP SEQCYQAPGG
PEDRGPAWVG SHGVLQHTQG LPADRGGLRP GSLDAEIDLL SSTLAELNGG RGHASRRPDR
QAYEPPPPPA YRTGSLKPNP ASPLPASPYG GPTPASYTTA STPAGPAFPV QVKVAQPVRG
CGPPRRGASQ ASGPLPGPHF PLPGRGEVWG PGYRSQREPG PGAKEEAAGI SGPAGRGRGG
EHGPQVPLSQ PPEDELDRLT KKLVHDMNHP PSGEYFGQCG GCGEDVVGDG AGVVALDRVF
HVGCFVCSTC RAQLRGQHFY AVERRAYCEG CYVATLEKCA TCSQPILDRI LRAMGKAYHP
GCFTCVVCHR GLDGIPFTVD ATSQIHCIED FHRKFAPRCS VCGGAIMPEP GQEETVRIVA
LDRSFHIGCY KCEECGLLLS SEGECQGCYP LDGHILCKAC SAWRIQELSA TVTTDC*

speed

0.46 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