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: ENST00000355594
MT speed 0 s - this script 2.661554 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ANKRD35	polymorphism_automatic	7.57102047721503e-10	simple_aae				P428S	single base exchange	rs6670984		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999242898 (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)

chr1:145561594C>TN/A show variant in all transcripts IGV

HGNC symbol

ANKRD35

Ensembl transcript ID

ENST00000355594

Genbank transcript ID

NM_144698

UniProt peptide

Q8N283

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1282C>T
cDNA.1369C>T
g.12365C>T

AA changes

P428S Score: 74 explain score(s)

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

428

frameshift

known variant

Reference ID: rs6670984

database	homozygous (T/T)	heterozygous	allele carriers
1000G	843	1142	1985
ExAC	13632	5503	19135

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.078	0
	-0.621	0
(flanking)	-0.32	0.003

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

499

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

428

mutated

not conserved

428

Ptroglodytes

all identical

ENSPTRG00000022831

428

Mmulatta

all identical

ENSMMUG00000016732

271

Fcatus

all identical

ENSFCAG00000005416

427

Mmusculus

all identical

ENSMUSG00000038354

427

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

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

3006 / 3006

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

1002 / 1002

position of stopcodon in wt / mu cDNA

3093 / 3093

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

88 / 88

chromosome

strand

last intron/exon boundary

3137

theoretical NMD boundary in CDS

2999

length of CDS

3006

coding sequence (CDS) position

1282

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

1369

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

12365

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

145561594

original gDNA sequence snippet

AACCAGAAGAACAGGGGCCACCCCAGAGCCCAGCGTCTGAG

altered gDNA sequence snippet

AACCAGAAGAACAGGGGCCATCCCAGAGCCCAGCGTCTGAG

original cDNA sequence snippet

AACCAGAAGAACAGGGGCCACCCCAGAGCCCAGCGTCTGAG

altered cDNA sequence snippet

AACCAGAAGAACAGGGGCCATCCCAGAGCCCAGCGTCTGAG

wildtype AA sequence

MKRIFSCSST QVAVERWNRH DQKLLEAVHR GDVGRVAALA SRKSARPTKL DSNGQSPFHL
AASKGLTECL TILLANGADI NSKNEDGSTA LHLATISCQP QCVKVLLQHG ANEDAVDAEN
RSPLHWAASS GCASSVLLLC DHEAFLDVLD NDGRTPLMIA SLGGHAAICS QLLQRGARVN
VTDKNDKSAL ILACEKGSAE VAELLLSHGA DAGAVDSTGH DALHYALHTQ DKALWRHLQQ
ALSRRRRGGQ RLVQHPDLAS QASPSEPQAG SPPKSSWRAE PEEEQEEKED EDPCSEEWRW
KYEEERRKVV RLEQELVQKT EECKTQAAAY LDLENQIREQ AQELGVLLSW EPRASGKQGS
SLRPGGDGME QGCPKDLLAE STQELKKQQQ AAATVNPVLA PKKAEDSAPG KIQYEVHGRS
QPEEQGPPQS PASETIRKAT GQQLTTNGAQ TFGPDHADQL PAGQKESSQV LGVEPGGTVA
EPVGPAAMNQ LLLQLREELA AVWREKDAAR GALSRPVMEG ALGTPRAEAA AAAWEKMEAR
LERVLARLEW AKAGLQVKPE VPSQESREGA LKAAPGSIKQ DEEKEKRVPG ARGEPLGALG
GEKALGGLAK GQLEKEMSVL RLSNSNLLEE LGELGRERQR LQRELQSLSQ RLQREFVPKP
EAQVQLQQLR QSVGLLTNEL AMEKEATEKL RKLLASQSSG LRGLWDCLPA DLVGERSAQS
KAAESLEELR ACISTLVDRH REAQQVLARL QEENQQLRGS LSPCREPGTS LKAPASPQVA
ALEQDLGKLE EELRAVQATM SGKSQEIGKL KQLLYQATEE VAELRAREAA SLRQHEKTRG
SLVAQAQAWG QELKALLEKY NTACREVGRL REAVAEERRR SGDLAAQAAE QERQASEMRG
RSEQFEKTAE LLKEKMEHLI GACRDKEAKI KELLKKLEQL SEEVLAIRGE NARLALQLQD
SQKNHEEIIS TYRNHLLNAA RGYMEHEVYN ILLQILSMEE E*

mutated AA sequence

MKRIFSCSST QVAVERWNRH DQKLLEAVHR GDVGRVAALA SRKSARPTKL DSNGQSPFHL
AASKGLTECL TILLANGADI NSKNEDGSTA LHLATISCQP QCVKVLLQHG ANEDAVDAEN
RSPLHWAASS GCASSVLLLC DHEAFLDVLD NDGRTPLMIA SLGGHAAICS QLLQRGARVN
VTDKNDKSAL ILACEKGSAE VAELLLSHGA DAGAVDSTGH DALHYALHTQ DKALWRHLQQ
ALSRRRRGGQ RLVQHPDLAS QASPSEPQAG SPPKSSWRAE PEEEQEEKED EDPCSEEWRW
KYEEERRKVV RLEQELVQKT EECKTQAAAY LDLENQIREQ AQELGVLLSW EPRASGKQGS
SLRPGGDGME QGCPKDLLAE STQELKKQQQ AAATVNPVLA PKKAEDSAPG KIQYEVHGRS
QPEEQGPSQS PASETIRKAT GQQLTTNGAQ TFGPDHADQL PAGQKESSQV LGVEPGGTVA
EPVGPAAMNQ LLLQLREELA AVWREKDAAR GALSRPVMEG ALGTPRAEAA AAAWEKMEAR
LERVLARLEW AKAGLQVKPE VPSQESREGA LKAAPGSIKQ DEEKEKRVPG ARGEPLGALG
GEKALGGLAK GQLEKEMSVL RLSNSNLLEE LGELGRERQR LQRELQSLSQ RLQREFVPKP
EAQVQLQQLR QSVGLLTNEL AMEKEATEKL RKLLASQSSG LRGLWDCLPA DLVGERSAQS
KAAESLEELR ACISTLVDRH REAQQVLARL QEENQQLRGS LSPCREPGTS LKAPASPQVA
ALEQDLGKLE EELRAVQATM SGKSQEIGKL KQLLYQATEE VAELRAREAA SLRQHEKTRG
SLVAQAQAWG QELKALLEKY NTACREVGRL REAVAEERRR SGDLAAQAAE QERQASEMRG
RSEQFEKTAE LLKEKMEHLI GACRDKEAKI KELLKKLEQL SEEVLAIRGE NARLALQLQD
SQKNHEEIIS TYRNHLLNAA RGYMEHEVYN ILLQILSMEE E*

speed

0.64 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