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: ENST00000306077
MT speed 0 s - this script 2.402067 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
TMEM43	polymorphism_automatic	0.982547562116317	simple_aae				K168N	single base exchange	rs4685076		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.0174524378836832 (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)

chr3:14174427A>TN/A show variant in all transcripts IGV

HGNC symbol

TMEM43

Ensembl transcript ID

ENST00000306077

Genbank transcript ID

NM_024334

UniProt peptide

Q9BTV4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.504A>T
cDNA.758A>T
g.7988A>T

AA changes

K168N Score: 94 explain score(s)

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

168

frameshift

known variant

Reference ID: rs4685076

database	homozygous (T/T)	heterozygous	allele carriers
1000G	309	1148	1457
ExAC	6564	19639	26203

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.946	1
	0.638	1
(flanking)	4.588	1

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

168

mutated

not conserved

168

Ptroglodytes

all identical

ENSPTRG00000014648

168

Mmulatta

all identical

ENSMMUG00000023124

168

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000030095

168

Ggallus

all identical

ENSGALG00000006345

168

Trubripes

all conserved

ENSTRUG00000011873

169

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0035825

150

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000011540

168

protein features

start (aa)	end (aa)	feature	details
53	313	TOPO_DOM	Perinuclear space (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1203 / 1203

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

401 / 401

position of stopcodon in wt / mu cDNA

1457 / 1457

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

255 / 255

chromosome

strand

last intron/exon boundary

1255

theoretical NMD boundary in CDS

950

length of CDS

1203

coding sequence (CDS) position

504

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

758

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

7988

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

14174427

original gDNA sequence snippet

GACCGAGAGATTGGCCACAAAAACCCCAGGTGAGAGCCAGG

altered gDNA sequence snippet

GACCGAGAGATTGGCCACAATAACCCCAGGTGAGAGCCAGG

original cDNA sequence snippet

GACCGAGAGATTGGCCACAAAAACCCCAGTGCCATGGCAGT

altered cDNA sequence snippet

GACCGAGAGATTGGCCACAATAACCCCAGTGCCATGGCAGT

wildtype AA sequence

MAANYSSTST RREHVKVKTS SQPGFLERLS ETSGGMFVGL MAFLLSFYLI FTNEGRALKT
ATSLAEGLSL VVSPDSIHSV APENEGRLVH IIGALRTSKL LSDPNYGVHL PAVKLRRHVE
MYQWVETEES REYTEDGQVK KETRYSYNTE WRSEIINSKN FDREIGHKNP SAMAVESFMA
TAPFVQIGRF FLSSGLIDKV DNFKSLSLSK LEDPHVDIIR RGDFFYHSEN PKYPEVGDLR
VSFSYAGLSG DDPDLGPAHV VTVIARQRGD QLVPFSTKSG DTLLLLHHGD FSAEEVFHRE
LRSNSMKTWG LRAAGWMAMF MGLNLMTRIL YTLVDWFPVF RDLVNIGLKA FAFCVATSLT
LLTVAAGWLF YRPLWALLIA GLALVPILVA RTRVPAKKLE *

mutated AA sequence

MAANYSSTST RREHVKVKTS SQPGFLERLS ETSGGMFVGL MAFLLSFYLI FTNEGRALKT
ATSLAEGLSL VVSPDSIHSV APENEGRLVH IIGALRTSKL LSDPNYGVHL PAVKLRRHVE
MYQWVETEES REYTEDGQVK KETRYSYNTE WRSEIINSKN FDREIGHNNP SAMAVESFMA
TAPFVQIGRF FLSSGLIDKV DNFKSLSLSK LEDPHVDIIR RGDFFYHSEN PKYPEVGDLR
VSFSYAGLSG DDPDLGPAHV VTVIARQRGD QLVPFSTKSG DTLLLLHHGD FSAEEVFHRE
LRSNSMKTWG LRAAGWMAMF MGLNLMTRIL YTLVDWFPVF RDLVNIGLKA FAFCVATSLT
LLTVAAGWLF YRPLWALLIA GLALVPILVA RTRVPAKKLE *

speed

0.40 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