MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000374518
MT speed 1.11 s - this script 3.196561 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
BMS1	polymorphism_automatic	0.017520372962832	simple_aae		affected		V1141I	single base exchange	rs12764004		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.982479627037168 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:43319197G>AN/A show variant in all transcripts IGV

HGNC symbol

BMS1

Ensembl transcript ID

ENST00000374518

Genbank transcript ID

NM_014753

UniProt peptide

Q14692

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3421G>A
cDNA.3484G>A
g.40949G>A

AA changes

V1141I Score: 29 explain score(s)

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

1141

frameshift

known variant

Reference ID: rs12764004

database	homozygous (A/A)	heterozygous	allele carriers
1000G	160	706	866
ExAC	2892	17185	20077

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.217	0.802
	0.341	0.842
(flanking)	4.714	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	40952	wt: 0.24 / mu: 0.44	wt: TCAGGCTCGCCCATGGCGTCAGACTAAAGGCGAACAAGGAC mu: TCAGGCTCGCCCATGGCATCAGACTAAAGGCGAACAAGGAC	gtca\|GACT
Donor increased	40952	wt: 0.20 / mu: 0.50	wt: GCGTCAGACTAAAGG mu: GCATCAGACTAAAGG	GTCA\|gact
Donor marginally increased	40954	wt: 0.9935 / mu: 0.9950 (marginal change - not scored)	wt: GTCAGACTAAAGGCG mu: ATCAGACTAAAGGCG	CAGA\|ctaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1141

mutated

all conserved

1141

Ptroglodytes

all identical

ENSPTRG00000002441

1141

Mmulatta

no alignment

ENSMMUG00000016282

n/a

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000030138

1145

Ggallus

all conserved

ENSGALG00000002624

1161

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000054154

1081

Dmelanogaster

all identical

FBgn0036686

1031

Celegans

all conserved

Y61A9LA.10

915

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3849 / 3849

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

1283 / 1283

position of stopcodon in wt / mu cDNA

3912 / 3912

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

64 / 64

chromosome

strand

last intron/exon boundary

3682

theoretical NMD boundary in CDS

3568

length of CDS

3849

coding sequence (CDS) position

3421

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

3484

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

40949

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

43319197

original gDNA sequence snippet

AACTCAGGCTCGCCCATGGCGTCAGACTAAAGGCGAACAAG

altered gDNA sequence snippet

AACTCAGGCTCGCCCATGGCATCAGACTAAAGGCGAACAAG

original cDNA sequence snippet

AACTCAGGCTCGCCCATGGCGTCAGACTAAAGGCGAACAAG

altered cDNA sequence snippet

AACTCAGGCTCGCCCATGGCATCAGACTAAAGGCGAACAAG

wildtype AA sequence

MEAKDQKKHR KKNSGPKAAK KKKRLLQDLQ LGDEEDARKR NPKAFAVQSA VRMARSFHRT
QDLKTKKHHI PVVDRTPLEP PPIVVVVMGP PKVGKSTLIQ CLIRNFTRQK LTEIRGPVTI
VSGKKRRLTI IECGCDINMM IDLAKVADLV LMLIDASFGF EMETFEFLNI CQVHGFPKIM
GVLTHLDSFK HNKQLKKTKK RLKHRFWTEV YPGAKLFYLS GMVHGEYQNQ EIHNLGRFIT
VMKFRPLTWQ TSHPYILADR MEDLTNPEDI RTNIKCDRKV SLYGYLRGAH LKNKSQIHMP
GVGDFAVSDI SFLPDPCALP EQQKKRCLNE KEKLVYAPLS GVGGVLYDKD AVYVDLGGSH
VFQDEVGPTH ELVQSLISTH STIDAKMASS RVTLFSDSKP LGSEDIDNQG LMMPKEEKQM
DLNTGRMRRK AIFGDEDESG DSDDEEDDEM SEDDGLENGS SDEEAEEEEN AEMTDQYMAV
KGIKRRKLEL EEDSEMDLPA FADSDDDLER SSAEEGEAEE ADESSEEEDC TAGEKGISGS
KAAGEGSKAG LSPANCQSDR VNLEKSLLMK KAALPTFDSG HCTAEEVFAS EDESEESSSL
SAEEEDSENE EAIRKKLSKP SQVSSGQKLG PQNFIDETSD IENLLKEEED YKEENNDSKE
TSGALKWKED LSRKAAEAFL RQQQAAPNLR KLIYGTVTED NEEEDDDTLE ELGGLFRVNQ
PDRECKHKAD SLDCSRFLVE APHDWDLEEV MNSIRDCFVT GKWEDDKDAA KVLAEDEELY
GDFEDLETGD VHKGKSGPNT QNEDIEKEVK EEIDPDEEES AKKKHLDKKR KLKEMFDAEY
DEGESTYFDD LKGEMQKQAQ LNRAEFEDQD DEARVQYEGF RPGMYVRIEI ENVPCEFVQN
FDPHYPIILG GLGNSEGNVG YVQMRLKKHR WYKKILKSRD PIIFSVGWRR FQTIPLYYIE
DHNGRQRLLK YTPQHMHCGA AFWGPITPQG TGFLAIQSVS GIMPDFRIAA TGVVLDLDKS
IKIVKKLKLT GFPYKIFKNT SFIKGMFNSA LEVAKFEGAV IRTVSGIRGQ IKKALRAPEG
AFRASFEDKL LMSDIVFMRT WYPVSIPAFY NPVTSLLKPV GEKDTWSGMR TTGQLRLAHG
VRLKANKDSL YKPILRQKKH FNSLHIPKAL QKALPFKNKP KTQAKAGKVP KDRRRPAVIR
EPHERKILAL LDALSTVHSQ KMKKAKEQRH LHNKEHFRAK QKEEEEKLKR QKDLRKKLFR
IQGQKERRNQ KSSLKGAEGQ LQ*

mutated AA sequence

MEAKDQKKHR KKNSGPKAAK KKKRLLQDLQ LGDEEDARKR NPKAFAVQSA VRMARSFHRT
QDLKTKKHHI PVVDRTPLEP PPIVVVVMGP PKVGKSTLIQ CLIRNFTRQK LTEIRGPVTI
VSGKKRRLTI IECGCDINMM IDLAKVADLV LMLIDASFGF EMETFEFLNI CQVHGFPKIM
GVLTHLDSFK HNKQLKKTKK RLKHRFWTEV YPGAKLFYLS GMVHGEYQNQ EIHNLGRFIT
VMKFRPLTWQ TSHPYILADR MEDLTNPEDI RTNIKCDRKV SLYGYLRGAH LKNKSQIHMP
GVGDFAVSDI SFLPDPCALP EQQKKRCLNE KEKLVYAPLS GVGGVLYDKD AVYVDLGGSH
VFQDEVGPTH ELVQSLISTH STIDAKMASS RVTLFSDSKP LGSEDIDNQG LMMPKEEKQM
DLNTGRMRRK AIFGDEDESG DSDDEEDDEM SEDDGLENGS SDEEAEEEEN AEMTDQYMAV
KGIKRRKLEL EEDSEMDLPA FADSDDDLER SSAEEGEAEE ADESSEEEDC TAGEKGISGS
KAAGEGSKAG LSPANCQSDR VNLEKSLLMK KAALPTFDSG HCTAEEVFAS EDESEESSSL
SAEEEDSENE EAIRKKLSKP SQVSSGQKLG PQNFIDETSD IENLLKEEED YKEENNDSKE
TSGALKWKED LSRKAAEAFL RQQQAAPNLR KLIYGTVTED NEEEDDDTLE ELGGLFRVNQ
PDRECKHKAD SLDCSRFLVE APHDWDLEEV MNSIRDCFVT GKWEDDKDAA KVLAEDEELY
GDFEDLETGD VHKGKSGPNT QNEDIEKEVK EEIDPDEEES AKKKHLDKKR KLKEMFDAEY
DEGESTYFDD LKGEMQKQAQ LNRAEFEDQD DEARVQYEGF RPGMYVRIEI ENVPCEFVQN
FDPHYPIILG GLGNSEGNVG YVQMRLKKHR WYKKILKSRD PIIFSVGWRR FQTIPLYYIE
DHNGRQRLLK YTPQHMHCGA AFWGPITPQG TGFLAIQSVS GIMPDFRIAA TGVVLDLDKS
IKIVKKLKLT GFPYKIFKNT SFIKGMFNSA LEVAKFEGAV IRTVSGIRGQ IKKALRAPEG
AFRASFEDKL LMSDIVFMRT WYPVSIPAFY NPVTSLLKPV GEKDTWSGMR TTGQLRLAHG
IRLKANKDSL YKPILRQKKH FNSLHIPKAL QKALPFKNKP KTQAKAGKVP KDRRRPAVIR
EPHERKILAL LDALSTVHSQ KMKKAKEQRH LHNKEHFRAK QKEEEEKLKR QKDLRKKLFR
IQGQKERRNQ KSSLKGAEGQ LQ*

speed

1.11 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