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: ENST00000274813
MT speed 0 s - this script 2.494784 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
MMUT	polymorphism_automatic	0.000163396110402947	simple_aae				I671V	single base exchange	rs8589		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999836603889597 (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)

chr6:49403282T>CN/A show variant in all transcripts IGV

HGNC symbol

MMUT

Ensembl transcript ID

ENST00000274813

Genbank transcript ID

NM_000255

UniProt peptide

P22033

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2011A>G
cDNA.2139A>G
g.27623A>G

AA changes

I671V Score: 29 explain score(s)

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

671

frameshift

known variant

Reference ID: rs8589

database	homozygous (C/C)	heterozygous	allele carriers
1000G	795	1162	1957
ExAC	20583	-8399	12184

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.622	1
	2.264	0.999
(flanking)	-0.437	0.938

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

671

mutated

all conserved

671

Ptroglodytes

all conserved

ENSPTRG00000018256

671

Mmulatta

all conserved

ENSMMUG00000002458

671

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000023921

669

Ggallus

all conserved

ENSGALG00000016697

669

Trubripes

all conserved

ENSTRUG00000004300

675

Drerio

all conserved

ENSDARG00000060554

678

Dmelanogaster

no homologue

Celegans

not conserved

ZK1058.1

662

Xtropicalis

all conserved

ENSXETG00000029939

673

protein features

start (aa)	end (aa)	feature	details
614	746	DOMAIN	B12-binding.	lost
667	673	STRAND		lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2253 / 2253

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

751 / 751

position of stopcodon in wt / mu cDNA

2381 / 2381

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

129 / 129

chromosome

strand

-1

last intron/exon boundary

2253

theoretical NMD boundary in CDS

2074

length of CDS

2253

coding sequence (CDS) position

2011

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

2139

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

27623

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

49403282

original gDNA sequence snippet

CGGATGTGCATGCTGTGGGCATAAGCACCCTCGCTGCTGGT

altered gDNA sequence snippet

CGGATGTGCATGCTGTGGGCGTAAGCACCCTCGCTGCTGGT

original cDNA sequence snippet

CGGATGTGCATGCTGTGGGCATAAGCACCCTCGCTGCTGGT

altered cDNA sequence snippet

CGGATGTGCATGCTGTGGGCGTAAGCACCCTCGCTGCTGGT

wildtype AA sequence

MLRAKNQLFL LSPHYLRQVK ESSGSRLIQQ RLLHQQQPLH PEWAALAKKQ LKGKNPEDLI
WHTPEGISIK PLYSKRDTMD LPEELPGVKP FTRGPYPTMY TFRPWTIRQY AGFSTVEESN
KFYKDNIKAG QQGLSVAFDL ATHRGYDSDN PRVRGDVGMA GVAIDTVEDT KILFDGIPLE
KMSVSMTMNG AVIPVLANFI VTGEEQGVPK EKLTGTIQND ILKEFMVRNT YIFPPEPSMK
IIADIFEYTA KHMPKFNSIS ISGYHMQEAG ADAILELAYT LADGLEYSRT GLQAGLTIDE
FAPRLSFFWG IGMNFYMEIA KMRAGRRLWA HLIEKMFQPK NSKSLLLRAH CQTSGWSLTE
QDPYNNIVRT AIEAMAAVFG GTQSLHTNSF DEALGLPTVK SARIARNTQI IIQEESGIPK
VADPWGGSYM MECLTNDVYD AALKLINEIE EMGGMAKAVA EGIPKLRIEE CAARRQARID
SGSEVIVGVN KYQLEKEDAV EVLAIDNTSV RNRQIEKLKK IKSSRDQALA ERCLAALTEC
AASGDGNILA LAVDASRARC TVGEITDALK KVFGEHKAND RMVSGAYRQE FGESKEITSA
IKRVHKFMER EGRRPRLLVA KMGQDGHDRG AKVIATGFAD LGFDVDIGPL FQTPREVAQQ
AVDADVHAVG ISTLAAGHKT LVPELIKELN SLGRPDILVM CGGVIPPQDY EFLFEVGVSN
VFGPGTRIPK AAVQVLDDIE KCLEKKQQSV *

mutated AA sequence

MLRAKNQLFL LSPHYLRQVK ESSGSRLIQQ RLLHQQQPLH PEWAALAKKQ LKGKNPEDLI
WHTPEGISIK PLYSKRDTMD LPEELPGVKP FTRGPYPTMY TFRPWTIRQY AGFSTVEESN
KFYKDNIKAG QQGLSVAFDL ATHRGYDSDN PRVRGDVGMA GVAIDTVEDT KILFDGIPLE
KMSVSMTMNG AVIPVLANFI VTGEEQGVPK EKLTGTIQND ILKEFMVRNT YIFPPEPSMK
IIADIFEYTA KHMPKFNSIS ISGYHMQEAG ADAILELAYT LADGLEYSRT GLQAGLTIDE
FAPRLSFFWG IGMNFYMEIA KMRAGRRLWA HLIEKMFQPK NSKSLLLRAH CQTSGWSLTE
QDPYNNIVRT AIEAMAAVFG GTQSLHTNSF DEALGLPTVK SARIARNTQI IIQEESGIPK
VADPWGGSYM MECLTNDVYD AALKLINEIE EMGGMAKAVA EGIPKLRIEE CAARRQARID
SGSEVIVGVN KYQLEKEDAV EVLAIDNTSV RNRQIEKLKK IKSSRDQALA ERCLAALTEC
AASGDGNILA LAVDASRARC TVGEITDALK KVFGEHKAND RMVSGAYRQE FGESKEITSA
IKRVHKFMER EGRRPRLLVA KMGQDGHDRG AKVIATGFAD LGFDVDIGPL FQTPREVAQQ
AVDADVHAVG VSTLAAGHKT LVPELIKELN SLGRPDILVM CGGVIPPQDY EFLFEVGVSN
VFGPGTRIPK AAVQVLDDIE KCLEKKQQSV *

speed

0.43 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