MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 2 transcript(s)...
Querying Taster for transcript #1: ENST00000343629
Querying Taster for transcript #2: ENST00000535580
MT speed 0 s - this script 2.933329 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
MEAK7	polymorphism_automatic	3.12489819576101e-08	simple_aae		affected		D172E	single base exchange	rs436278		show file
MEAK7	polymorphism_automatic	3.12489819576101e-08	simple_aae		affected		D145E	single base exchange	rs436278		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999968751018 (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
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr16:84522897G>CN/A show variant in all transcripts IGV

HGNC symbol

MEAK7

Ensembl transcript ID

ENST00000343629

Genbank transcript ID

NM_020947

UniProt peptide

Q6P9B6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.516C>G
cDNA.699C>G
g.64743C>G

AA changes

D172E Score: 45 explain score(s)

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

172

frameshift

known variant

Reference ID: rs436278

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1058	993	2051
ExAC	20146	-7525	12621

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.262	0.997
	0.669	0.998
(flanking)	2.328	0.998

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 marginally increased	64741	wt: 0.5176 / mu: 0.5277 (marginal change - not scored)	wt: TGGCTGCTCAGCTGCTCTCTGACATGAAGCTGCAAGGCAAG mu: TGGCTGCTCAGCTGCTCTCTGAGATGAAGCTGCAAGGCAAG	tctg\|ACAT
Acc increased	64742	wt: 0.45 / mu: 0.91	wt: GGCTGCTCAGCTGCTCTCTGACATGAAGCTGCAAGGCAAGT mu: GGCTGCTCAGCTGCTCTCTGAGATGAAGCTGCAAGGCAAGT	ctga\|CATG
Donor marginally increased	64740	wt: 0.9097 / mu: 0.9184 (marginal change - not scored)	wt: CTCTCTGACATGAAG mu: CTCTCTGAGATGAAG	CTCT\|gaca
Donor marginally increased	64743	wt: 0.9800 / mu: 0.9806 (marginal change - not scored)	wt: TCTGACATGAAGCTG mu: TCTGAGATGAAGCTG	TGAC\|atga
Donor gained	64742	0.38	mu: CTCTGAGATGAAGCT	CTGA\|gatg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

172

mutated

all conserved

172

Ptroglodytes

all conserved

ENSPTRG00000008418

172

Mmulatta

all conserved

ENSMMUG00000018961

174

Fcatus

all conserved

ENSFCAG00000011749

172

Mmusculus

all conserved

ENSMUSG00000034105

170

Ggallus

all conserved

ENSGALG00000005596

178

Trubripes

all conserved

ENSTRUG00000007124

183

Drerio

all conserved

ENSDARG00000062951

173

Dmelanogaster

no alignment

FBgn0031904

n/a

Celegans

no alignment

K08E7.1

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
268	412	DOMAIN	TLD.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1371 / 1371

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

457 / 457

position of stopcodon in wt / mu cDNA

1554 / 1554

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

184 / 184

chromosome

strand

-1

last intron/exon boundary

1441

theoretical NMD boundary in CDS

1207

length of CDS

1371

coding sequence (CDS) position

516

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

699

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

64743

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

84522897

original gDNA sequence snippet

GCTGCTCAGCTGCTCTCTGACATGAAGCTGCAAGGCAAGTG

altered gDNA sequence snippet

GCTGCTCAGCTGCTCTCTGAGATGAAGCTGCAAGGCAAGTG

original cDNA sequence snippet

GCTGCTCAGCTGCTCTCTGACATGAAGCTGCAAGATGGCAA

altered cDNA sequence snippet

GCTGCTCAGCTGCTCTCTGAGATGAAGCTGCAAGATGGCAA

wildtype AA sequence

MGNSRSRVGR SFCSQFLPEE QAEIDQLFDA LSSDKNSPNV SSKSFSLKAL QNHVGEALPP
EMVTRLYDGM RRVDLTGKAK GPSENVSQEQ FTASMSHLLK GNSEEKSLMI MKMISATEGP
VKAREVQKFT EDLVGSVVHV LSHRQELRGW TGKEAPGPNP RVQVLAAQLL SDMKLQDGKR
LLGPQWLDYD CDRAVIEDWV FRVPHVAIFL SVVICKGFLI LCSSLDLTTL VPERQVDQGR
GFESILDVLS VMYINAQLPR EQRHRWCLLF SSELHGHSFS QLCGHITHRG PCVAVLEDHD
KHVFGGFASC SWEVKPQFQG DNRCFLFSIC PSMAVYTHTG YNDHYMYLNH GQQTIPNGLG
MGGQHNYFGL WVDVDFGKGH SRAKPTCTTY NSPQLSAQEN FQFDKMEVWA VGDPSEEQLA
KGNKSILDAD PEAQALLEIS GHSRHSEGLR EVPDDE*

mutated AA sequence

MGNSRSRVGR SFCSQFLPEE QAEIDQLFDA LSSDKNSPNV SSKSFSLKAL QNHVGEALPP
EMVTRLYDGM RRVDLTGKAK GPSENVSQEQ FTASMSHLLK GNSEEKSLMI MKMISATEGP
VKAREVQKFT EDLVGSVVHV LSHRQELRGW TGKEAPGPNP RVQVLAAQLL SEMKLQDGKR
LLGPQWLDYD CDRAVIEDWV FRVPHVAIFL SVVICKGFLI LCSSLDLTTL VPERQVDQGR
GFESILDVLS VMYINAQLPR EQRHRWCLLF SSELHGHSFS QLCGHITHRG PCVAVLEDHD
KHVFGGFASC SWEVKPQFQG DNRCFLFSIC PSMAVYTHTG YNDHYMYLNH GQQTIPNGLG
MGGQHNYFGL WVDVDFGKGH SRAKPTCTTY NSPQLSAQEN FQFDKMEVWA VGDPSEEQLA
KGNKSILDAD PEAQALLEIS GHSRHSEGLR EVPDDE*

speed

0.50 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

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999968751018 (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
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr16:84522897G>CN/A show variant in all transcripts IGV

HGNC symbol

MEAK7

Ensembl transcript ID

ENST00000535580

Genbank transcript ID

N/A

UniProt peptide

Q6P9B6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.435C>G
cDNA.860C>G
g.64743C>G

AA changes

D145E Score: 45 explain score(s)

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

145

frameshift

known variant

Reference ID: rs436278

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1058	993	2051
ExAC	20146	-7525	12621

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.262	0.997
	0.669	0.998
(flanking)	2.328	0.998

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 marginally increased	64741	wt: 0.5176 / mu: 0.5277 (marginal change - not scored)	wt: TGGCTGCTCAGCTGCTCTCTGACATGAAGCTGCAAGGCAAG mu: TGGCTGCTCAGCTGCTCTCTGAGATGAAGCTGCAAGGCAAG	tctg\|ACAT
Acc increased	64742	wt: 0.45 / mu: 0.91	wt: GGCTGCTCAGCTGCTCTCTGACATGAAGCTGCAAGGCAAGT mu: GGCTGCTCAGCTGCTCTCTGAGATGAAGCTGCAAGGCAAGT	ctga\|CATG
Donor marginally increased	64740	wt: 0.9097 / mu: 0.9184 (marginal change - not scored)	wt: CTCTCTGACATGAAG mu: CTCTCTGAGATGAAG	CTCT\|gaca
Donor marginally increased	64743	wt: 0.9800 / mu: 0.9806 (marginal change - not scored)	wt: TCTGACATGAAGCTG mu: TCTGAGATGAAGCTG	TGAC\|atga
Donor gained	64742	0.38	mu: CTCTGAGATGAAGCT	CTGA\|gatg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

145

mutated

all conserved

145

Ptroglodytes

all conserved

ENSPTRG00000008418

172

Mmulatta

all conserved

ENSMMUG00000018961

174

GKY

Fcatus

all conserved

ENSFCAG00000011749

172

Mmusculus

all conserved

ENSMUSG00000034105

170

Ggallus

all conserved

ENSGALG00000005596

178

Trubripes

all conserved

ENSTRUG00000007124

183

Drerio

all conserved

ENSDARG00000062951

173

Dmelanogaster

no alignment

FBgn0031904

n/a

Celegans

no alignment

K08E7.1

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
268	412	DOMAIN	TLD.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1290 / 1290

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

430 / 430

position of stopcodon in wt / mu cDNA

1715 / 1715

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

426 / 426

chromosome

strand

-1

last intron/exon boundary

1602

theoretical NMD boundary in CDS

1126

length of CDS

1290

coding sequence (CDS) position

435

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

860

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

64743

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

84522897

original gDNA sequence snippet

GCTGCTCAGCTGCTCTCTGACATGAAGCTGCAAGGCAAGTG

altered gDNA sequence snippet

GCTGCTCAGCTGCTCTCTGAGATGAAGCTGCAAGGCAAGTG

original cDNA sequence snippet

GCTGCTCAGCTGCTCTCTGACATGAAGCTGCAAGATGGCAA

altered cDNA sequence snippet

GCTGCTCAGCTGCTCTCTGAGATGAAGCTGCAAGATGGCAA

wildtype AA sequence

MGLPSWTRRS RNHDVSGAPL PLECNHVGEA LPPEMVTRLY DGMRRVDLTG KAKGPSENVS
QEQFTASMSH LLKGNSEEKS LMIMKMISAT EGPVKAREVQ KFTEDLVGSV VHVLSHRQEL
RGWTGKEAPG PNPRVQVLAA QLLSDMKLQD GKRLLGPQWL DYDCDRAVIE DWVFRVPHVA
IFLSVVICKG FLILCSSLDL TTLVPERQVD QGRGFESILD VLSVMYINAQ LPREQRHRWC
LLFSSELHGH SFSQLCGHIT HRGPCVAVLE DHDKHVFGGF ASCSWEVKPQ FQGDNRCFLF
SICPSMAVYT HTGYNDHYMY LNHGQQTIPN GLGMGGQHNY FGLWVDVDFG KGHSRAKPTC
TTYNSPQLSA QENFQFDKME VWAVGDPSEE QLAKGNKSIL DADPEAQALL EISGHSRHSE
GLREVPDDE*

mutated AA sequence

MGLPSWTRRS RNHDVSGAPL PLECNHVGEA LPPEMVTRLY DGMRRVDLTG KAKGPSENVS
QEQFTASMSH LLKGNSEEKS LMIMKMISAT EGPVKAREVQ KFTEDLVGSV VHVLSHRQEL
RGWTGKEAPG PNPRVQVLAA QLLSEMKLQD GKRLLGPQWL DYDCDRAVIE DWVFRVPHVA
IFLSVVICKG FLILCSSLDL TTLVPERQVD QGRGFESILD VLSVMYINAQ LPREQRHRWC
LLFSSELHGH SFSQLCGHIT HRGPCVAVLE DHDKHVFGGF ASCSWEVKPQ FQGDNRCFLF
SICPSMAVYT HTGYNDHYMY LNHGQQTIPN GLGMGGQHNY FGLWVDVDFG KGHSRAKPTC
TTYNSPQLSA QENFQFDKME VWAVGDPSEE QLAKGNKSIL DADPEAQALL EISGHSRHSE
GLREVPDDE*

speed

0.48 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems