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: ENST00000388820
MT speed 0 s - this script 2.797875 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ADAMTS7	polymorphism_automatic	0.968515139022873	simple_aae				T307M	single base exchange	rs2127898		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.0314848609771271 (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)

chr15:79083120G>AN/A show variant in all transcripts IGV

HGNC symbol

ADAMTS7

Ensembl transcript ID

ENST00000388820

Genbank transcript ID

NM_014272

UniProt peptide

Q9UKP4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.920C>T
cDNA.1131C>T
g.20654C>T

AA changes

T307M Score: 81 explain score(s)

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

307

frameshift

known variant

Reference ID: rs2127898

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	6468	19831	26299

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-2.4	0.084
	1.865	0.956
(flanking)	1.971	0.998

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

307

mutated

not conserved

307

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000010716

307

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000032363

291

Ggallus

all conserved

ENSGALG00000008164

314

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all identical

FBgn0029791

376

LNL

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000007838

261

protein features

start (aa)	end (aa)	feature	details
242	452	DOMAIN	Peptidase M12B.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5061 / 5061

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

1687 / 1687

position of stopcodon in wt / mu cDNA

5272 / 5272

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

212 / 212

chromosome

strand

-1

last intron/exon boundary

5115

theoretical NMD boundary in CDS

4853

length of CDS

5061

coding sequence (CDS) position

920

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

1131

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

20654

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

79083120

original gDNA sequence snippet

CCAGGAGGACCTAAAGATCACGCACCATGCAGACAACACCC

altered gDNA sequence snippet

CCAGGAGGACCTAAAGATCATGCACCATGCAGACAACACCC

original cDNA sequence snippet

GGAGGAGGACCTAAAGATCACGCACCATGCAGACAACACCC

altered cDNA sequence snippet

GGAGGAGGACCTAAAGATCATGCACCATGCAGACAACACCC

wildtype AA sequence

MPGGPSPRSP APLLRPLLLL LCALAPGAPG PAPGRATEGR AALDIVHPVR VDAGGSFLSY
ELWPRALRKR DVSVRRDAPA FYELQYRGRE LRFNLTANQH LLAPGFVSET RRRGGLGRAH
IRAHTPACHL LGEVQDPELE GGLAAISACD GLKGVFQLSN EDYFIEPLDS APARPGHAQP
HVVYKRQAPE RLAQRGDSSA PSTCGVQVYP ELESRRERWE QRQQWRRPRL RRLHQRSVSK
EKWVETLVVA DAKMVEYHGQ PQVESYVLTI MNMVAGLFHD PSIGNPIHIT IVRLVLLEDE
EEDLKITHHA DNTLKSFCKW QKSINMKGDA HPLHHDTAIL LTRKDLCAAM NRPCETLGLS
HVAGMCQPHR SCSINEDTGL PLAFTVAHEL GHSFGIQHDG SGNDCEPVGK RPFIMSPQLL
YDAAPLTWSR CSRQYITRFL DRGWGLCLDD PPAKDIIDFP SVPPGVLYDV SHQCRLQYGA
YSAFCEDMDN VCHTLWCSVG TTCHSKLDAA VDGTRCGENK WCLSGECVPV GFRPEAVDGG
WSGWSAWSIC SRSCGMGVQS AERQCTQPTP KYKGRYCVGE RKRFRLCNLQ ACPAGRPSFR
HVQCSHFDAM LYKGQLHTWV PVVNDVNPCE LHCRPANEYF AEKLRDAVVD GTPCYQVRAS
RDLCINGICK NVGCDFEIDS GAMEDRCGVC HGNGSTCHTV SGTFEEAEGL GYVDVGLIPA
GAREIRIQEV AEAANFLALR SEDPEKYFLN GGWTIQWNGD YQVAGTTFTY ARRGNWENLT
SPGPTKEPVW IQLLFQESNP GVHYEYTIHR EAGGHDEVPP PVFSWHYGPW TKCTVTCGRG
VQRQNVYCLE RQAGPVDEEH CDPLGRPDDQ QRKCSEQPCP ARWWAGEWQL CSSSCGPGGL
SRRAVLCIRS VGLDEQSALE PPACEHLPRP PTETPCNRHV PCPATWAVGN WSQCSVTCGE
GTQRRNVLCT NDTGVPCDEA QQPASEVTCS LPLCRWPLGT LGPEGSGSGS SSHELFNEAD
FIPHHLAPRP SPASSPKPGT MGNAIEEEAP ELDLPGPVFV DDFYYDYNFI NFHEDLSYGP
SEEPDLDLAG TGDRTPPPHS HPAAPSTGSP VPATEPPAAK EEGVLGPWSP SPWPSQAGRS
PPPPSEQTPG NPLINFLPEE DTPIGAPDLG LPSLSWPRVS TDGLQTPATP ESQNDFPVGK
DSQSQLPPPW RDRTNEVFKD DEEPKGRGAP HLPPRPSSTL PPLSPVGSTH SSPSPDVAEL
WTGGTVAWEP ALEGGLGPVD SELWPTVGVA SLLPPPIAPL PEMKVRDSSL EPGTPSFPTP
GPGSWDLQTV AVWGTFLPTT LTGLGHMPEP ALNPGPKGQP ESLSPEVPLS SRLLSTPAWD
SPANSHRVPE TQPLAPSLAE AGPPADPLVV RNAGWQAGNW SECSTTCGLG AVWRPVRCSS
GRDEDCAPAG RPQPARRCHL RPCATWHSGN WSKCSRSCGG GSSVRDVQCV DTRDLRPLRP
FHCQPGPAKP PAHRPCGAQP CLSWYTSSWR ECSEACGGGE QQRLVTCPEP GLCEEALRPN
TTRPCNTHPC TQWVVGPWGQ CSGPCGGGVQ RRLVKCVNTQ TGLPEEDSDQ CGHEAWPESS
RPCGTEDCEP VEPPRCERDR LSFGFCETLR LLGRCQLPTI RTQCCRSCSP PSHGAPSRGH
QRVARR*

mutated AA sequence

MPGGPSPRSP APLLRPLLLL LCALAPGAPG PAPGRATEGR AALDIVHPVR VDAGGSFLSY
ELWPRALRKR DVSVRRDAPA FYELQYRGRE LRFNLTANQH LLAPGFVSET RRRGGLGRAH
IRAHTPACHL LGEVQDPELE GGLAAISACD GLKGVFQLSN EDYFIEPLDS APARPGHAQP
HVVYKRQAPE RLAQRGDSSA PSTCGVQVYP ELESRRERWE QRQQWRRPRL RRLHQRSVSK
EKWVETLVVA DAKMVEYHGQ PQVESYVLTI MNMVAGLFHD PSIGNPIHIT IVRLVLLEDE
EEDLKIMHHA DNTLKSFCKW QKSINMKGDA HPLHHDTAIL LTRKDLCAAM NRPCETLGLS
HVAGMCQPHR SCSINEDTGL PLAFTVAHEL GHSFGIQHDG SGNDCEPVGK RPFIMSPQLL
YDAAPLTWSR CSRQYITRFL DRGWGLCLDD PPAKDIIDFP SVPPGVLYDV SHQCRLQYGA
YSAFCEDMDN VCHTLWCSVG TTCHSKLDAA VDGTRCGENK WCLSGECVPV GFRPEAVDGG
WSGWSAWSIC SRSCGMGVQS AERQCTQPTP KYKGRYCVGE RKRFRLCNLQ ACPAGRPSFR
HVQCSHFDAM LYKGQLHTWV PVVNDVNPCE LHCRPANEYF AEKLRDAVVD GTPCYQVRAS
RDLCINGICK NVGCDFEIDS GAMEDRCGVC HGNGSTCHTV SGTFEEAEGL GYVDVGLIPA
GAREIRIQEV AEAANFLALR SEDPEKYFLN GGWTIQWNGD YQVAGTTFTY ARRGNWENLT
SPGPTKEPVW IQLLFQESNP GVHYEYTIHR EAGGHDEVPP PVFSWHYGPW TKCTVTCGRG
VQRQNVYCLE RQAGPVDEEH CDPLGRPDDQ QRKCSEQPCP ARWWAGEWQL CSSSCGPGGL
SRRAVLCIRS VGLDEQSALE PPACEHLPRP PTETPCNRHV PCPATWAVGN WSQCSVTCGE
GTQRRNVLCT NDTGVPCDEA QQPASEVTCS LPLCRWPLGT LGPEGSGSGS SSHELFNEAD
FIPHHLAPRP SPASSPKPGT MGNAIEEEAP ELDLPGPVFV DDFYYDYNFI NFHEDLSYGP
SEEPDLDLAG TGDRTPPPHS HPAAPSTGSP VPATEPPAAK EEGVLGPWSP SPWPSQAGRS
PPPPSEQTPG NPLINFLPEE DTPIGAPDLG LPSLSWPRVS TDGLQTPATP ESQNDFPVGK
DSQSQLPPPW RDRTNEVFKD DEEPKGRGAP HLPPRPSSTL PPLSPVGSTH SSPSPDVAEL
WTGGTVAWEP ALEGGLGPVD SELWPTVGVA SLLPPPIAPL PEMKVRDSSL EPGTPSFPTP
GPGSWDLQTV AVWGTFLPTT LTGLGHMPEP ALNPGPKGQP ESLSPEVPLS SRLLSTPAWD
SPANSHRVPE TQPLAPSLAE AGPPADPLVV RNAGWQAGNW SECSTTCGLG AVWRPVRCSS
GRDEDCAPAG RPQPARRCHL RPCATWHSGN WSKCSRSCGG GSSVRDVQCV DTRDLRPLRP
FHCQPGPAKP PAHRPCGAQP CLSWYTSSWR ECSEACGGGE QQRLVTCPEP GLCEEALRPN
TTRPCNTHPC TQWVVGPWGQ CSGPCGGGVQ RRLVKCVNTQ TGLPEEDSDQ CGHEAWPESS
RPCGTEDCEP VEPPRCERDR LSFGFCETLR LLGRCQLPTI RTQCCRSCSP PSHGAPSRGH
QRVARR*

speed

0.78 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