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: ENST00000292599
MT speed 0 s - this script 2.314941 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
MAML1	polymorphism_automatic	2.11409778572147e-11	simple_aae				S1007N	single base exchange	rs6895902		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999978859 (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)

chr5:179201847G>AN/A show variant in all transcripts IGV

HGNC symbol

MAML1

Ensembl transcript ID

ENST00000292599

Genbank transcript ID

NM_014757

UniProt peptide

Q92585

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3020G>A
cDNA.3283G>A
g.41997G>A

AA changes

S1007N Score: 46 explain score(s)

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

1007

frameshift

known variant

Reference ID: rs6895902

database	homozygous (A/A)	heterozygous	allele carriers
1000G	154	838	992
ExAC	5177	22413	27590

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.003	0.465
	0.214	0.455
(flanking)	0.041	0.476

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

952

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1007

mutated

all conserved

1007

Ptroglodytes

all conserved

ENSPTRG00000033932

1016

Mmulatta

all conserved

ENSMMUG00000012371

1016

Fcatus

all conserved

ENSFCAG00000014693

898

Mmusculus

all conserved

ENSMUSG00000050567

1011

Ggallus

all conserved

ENSGALG00000005929

1039

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000076466

1038

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000011243

1024

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3051 / 3051

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

1017 / 1017

position of stopcodon in wt / mu cDNA

3314 / 3314

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

264 / 264

chromosome

strand

last intron/exon boundary

2332

theoretical NMD boundary in CDS

2018

length of CDS

3051

coding sequence (CDS) position

3020

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

3283

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

41997

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

179201847

original gDNA sequence snippet

GACTTCAGAGGAGTGGATGAGTGATTTGGACGACCTGTTAG

altered gDNA sequence snippet

GACTTCAGAGGAGTGGATGAATGATTTGGACGACCTGTTAG

original cDNA sequence snippet

GACTTCAGAGGAGTGGATGAGTGATTTGGACGACCTGTTAG

altered cDNA sequence snippet

GACTTCAGAGGAGTGGATGAATGATTTGGACGACCTGTTAG

wildtype AA sequence

MVLPTCPMAE FALPRHSAVM ERLRRRIELC RRHHSTCEAR YEAVSPERLE LERQHTFALH
QRCIQAKAKR AGKHRQPPAA TAPAPAAPAP RLDAADGPEH GRPATHLHDT VKRNLDSATS
PQNGDQQNGY GDLFPGHKKT RREAPLGVAI SSNGLPPASP LGQSDKPSGA DALQSSGKHS
LGLDSLNKKR LADSSLHLNG GSNPSESFPL SLNKELKQEP VEDLPCMITG TVGSISQSNL
MPDLNLNEQE WKELIEELNR SVPDEDMKDL FNEDFEEKKD PESSGSATQT PLAQDINIKT
EFSPAAFEQE QLGSPQVRAG SAGQTFLGPS SAPVSTDSPS LGGSQTLFHT SGQPRADNPS
PNLMPASAQA QNAQRALAGV VLPSQGPGGA SELSSAHQLQ QIAAKQKREQ MLQNPQQATP
APAPGQMSTW QQTGPSHSSL DVPYPMEKPA SPSSYKQDFT NSKLLMMPSV NKSSPRPGGP
YLQPSHVNLL SHQPPSNLNQ NSANNQGSVL DYGNTKPLSH YKADCGQGSP GSGQSKPALM
AYLPQQLSHI SHEQNSLFLM KPKPGNMPFR SLVPPGQEQN PSSVPVQAQA TSVGTQPPAV
SVASSHNSSP YLSSQQQAAV MKQHQLLLDQ QKQREQQQKH LQQQQFLQRQ QHLLAEQEKQ
QFQRHLTRPP PQYQDPTQGS FPQQVGQFTG SSAAVPGMNT LGPSNSSCPR VFPQAGNLMP
MGPGHASVSS LPTNSGQQDR GVAQFPGSQN MPQSSLYGMA SGITQIVAQP PPQATNGHAH
IPRQTNVGQN TSVSAAYGQN SLGSSGLSQQ HNKGTLNPGL TKPPVPRVSP AMGGQNSSWQ
HQGMPNLSGQ TPGNSNVSPF TAASSFHMQQ QAHLKMSSPQ FSQAVPNRPM APMSSAAAVG
SLLPPVSAQQ RTSAPAPAPP PTAPQQGLPG LSPAGPELGA FSQSPASQMG GRAGLHCTQA
YPVRTAGQEL PFAYSGQPGG SGLSSVAGHT DLIDSLLKNR TSEEWMSDLD DLLGSQ*

mutated AA sequence

speed

0.30 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