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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000312090
Querying Taster for transcript #2: ENST00000589119
Querying Taster for transcript #3: ENST00000395808
Querying Taster for transcript #4: ENST00000325464
Querying Taster for transcript #5: ENST00000269814
MT speed 0 s - this script 4.099108 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
MED16	polymorphism_automatic	0.00146363676010097	simple_aae		affected		L675S	single base exchange	rs1683569		show file
MED16	polymorphism_automatic	0.999999999999412	without_aae		affected			single base exchange	rs1683569		show file
MED16	polymorphism_automatic	0.999999999999412	without_aae		affected			single base exchange	rs1683569		show file
MED16	polymorphism_automatic	0.999999999999412	without_aae		affected			single base exchange	rs1683569		show file
MED16	polymorphism_automatic	0.999999999999412	without_aae		affected			single base exchange	rs1683569		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.998536363239899 (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)

chr19:871135A>GN/A show variant in all transcripts IGV

HGNC symbol

MED16

Ensembl transcript ID

ENST00000269814

Genbank transcript ID

N/A

UniProt peptide

Q9Y2X0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2024T>C
cDNA.2157T>C
g.22084T>C

AA changes

L675S Score: 145 explain score(s)

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

675

frameshift

known variant

Reference ID: rs1683569

database	homozygous (G/G)	heterozygous	allele carriers
1000G	261	804	1065
ExAC	618	2964	3582

regulatory features

Promoter Associated, Regulatory Feature, Promoter like regulatory feature
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.391	1
	1.06	1
(flanking)	1.65	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
Donor increased	22085	wt: 0.23 / mu: 0.37	wt: TGGTTAGCCGCCTGC mu: TGGTCAGCCGCCTGC	GTTA\|gccg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

675

mutated

not conserved

675

Ptroglodytes

no alignment

ENSPTRG00000010168

n/a

Mmulatta

no alignment

ENSMMUG00000009677

n/a

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000013833

n/a

Ggallus

no alignment

ENSGALG00000001978

n/a

Trubripes

no alignment

ENSTRUG00000007850

n/a

Drerio

no alignment

ENSDARG00000040779

n/a

Dmelanogaster

not conserved

FBgn0034707

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000021641

n/a

protein features

start (aa)	end (aa)	feature	details
634	675	REPEAT	WD 4.	lost
790	829	REPEAT	WD 5.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2256 / 2256

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

752 / 752

position of stopcodon in wt / mu cDNA

2389 / 2389

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

134 / 134

chromosome

strand

-1

last intron/exon boundary

2340

theoretical NMD boundary in CDS

2156

length of CDS

2256

coding sequence (CDS) position

2024

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

2157

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

22084

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

871135

original gDNA sequence snippet

CCAGCCAGCGACGGCCTGGTTAGCCGCCTGCAGCCCAAGCA

altered gDNA sequence snippet

CCAGCCAGCGACGGCCTGGTCAGCCGCCTGCAGCCCAAGCA

original cDNA sequence snippet

CCAGCCAGCGACGGCCTGGTTAGCCGCCTGCAGCCCAAGCA

altered cDNA sequence snippet

CCAGCCAGCGACGGCCTGGTCAGCCGCCTGCAGCCCAAGCA

wildtype AA sequence

MCDLRRPAAG GMMDLAYVCE WEKWSKSTHC PSVPLACAWS CRNLIAFTMD LRSDDQDLTR
MIHILDTEHP WDLHSIPSEH HEAITCLEWD QSGSRLLSAD ADGQIKCWSM ADHLANSWES
SVGSLVEGDP IVALSWLHNG VKLALHVEKS GASSFGEKFS RVKFSPSLTL FGGKPMEGWI
AVTVSGLVTV SLLKPSGQVL TSTESLCRLR GRVALADIAF TGGGNIVVAT ADGSSASPVQ
FYKVCVSVVS EKCRIDTEIL PSLFMRCTTD LNRKDKFPAI THLKFLARDM SEQVLLCASS
QTSSIVECWS LRKEGLPVNN IFQQISPVVG DKQPTILKWR ILSATNDLDR VSAVALPKLP
ISLTNTDLKV ASDTQFYPGL GLALAFHDGS VHIVHRLSLQ TMAVFYSSAA PRPVDEPAMK
RPRTAGPAVH LKAMQLSWTS LALVGIDSHG KLSVLRLSPS MGHPLEVGLA LRHLLFLLEY
CMVTGYDWWD ILLHVQPSMV QSLVEKLHEE YTRQTAALQQ VLSTRILAMK ASLCKLSPCT
VTRVCDYHTK LFLIAISSTL KSLLRPHFLN TPDKSPGDRL TEICTKITDV DIDKVMINLK
TEEFVLDMNT LQALQQLLQW VGDFVLYLLA SLPNQVAMRA QRASRTRRWW MNAACCPASC
LSPAWTGCQP ATAWLAACSP SSPFVCSLAG RPRCLAVLPP CSSTASPGPQ ASPRSTTCGG
CTLALAPRRN ARPAPGAAVS PCSSRPTEPR R*

mutated AA sequence

MCDLRRPAAG GMMDLAYVCE WEKWSKSTHC PSVPLACAWS CRNLIAFTMD LRSDDQDLTR
MIHILDTEHP WDLHSIPSEH HEAITCLEWD QSGSRLLSAD ADGQIKCWSM ADHLANSWES
SVGSLVEGDP IVALSWLHNG VKLALHVEKS GASSFGEKFS RVKFSPSLTL FGGKPMEGWI
AVTVSGLVTV SLLKPSGQVL TSTESLCRLR GRVALADIAF TGGGNIVVAT ADGSSASPVQ
FYKVCVSVVS EKCRIDTEIL PSLFMRCTTD LNRKDKFPAI THLKFLARDM SEQVLLCASS
QTSSIVECWS LRKEGLPVNN IFQQISPVVG DKQPTILKWR ILSATNDLDR VSAVALPKLP
ISLTNTDLKV ASDTQFYPGL GLALAFHDGS VHIVHRLSLQ TMAVFYSSAA PRPVDEPAMK
RPRTAGPAVH LKAMQLSWTS LALVGIDSHG KLSVLRLSPS MGHPLEVGLA LRHLLFLLEY
CMVTGYDWWD ILLHVQPSMV QSLVEKLHEE YTRQTAALQQ VLSTRILAMK ASLCKLSPCT
VTRVCDYHTK LFLIAISSTL KSLLRPHFLN TPDKSPGDRL TEICTKITDV DIDKVMINLK
TEEFVLDMNT LQALQQLLQW VGDFVLYLLA SLPNQVAMRA QRASRTRRWW MNAACCPASC
LSPAWTGCQP ATAWSAACSP SSPFVCSLAG RPRCLAVLPP CSSTASPGPQ ASPRSTTCGG
CTLALAPRRN ARPAPGAAVS PCSSRPTEPR R*

speed

0.80 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: without_aae, prob: 5.88213418637044e-13 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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)

chr19:871135A>GN/A show variant in all transcripts IGV

HGNC symbol

MED16

Ensembl transcript ID

ENST00000312090

Genbank transcript ID

N/A

UniProt peptide

Q9Y2X0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2274T>C
cDNA.2400T>C
g.22084T>C

AA changes

no AA changes

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

N/A

frameshift

known variant

Reference ID: rs1683569

database	homozygous (G/G)	heterozygous	allele carriers
1000G	261	804	1065
ExAC	618	2964	3582

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.391	1
	1.06	1
(flanking)	1.65	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
Donor increased	22085	wt: 0.23 / mu: 0.37	wt: TGGTTAGCCGCCTGC mu: TGGTCAGCCGCCTGC	GTTA\|gccg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
790	829	REPEAT	WD 5.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

position of stopcodon in wt / mu CDS

2583 / 2583

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

861 / 861

position of stopcodon in wt / mu cDNA

2709 / 2709

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

127 / 127

chromosome

strand

-1

last intron/exon boundary

2583

theoretical NMD boundary in CDS

2406

length of CDS

2583

coding sequence (CDS) position

2274

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

2400

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

22084

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

871135

original gDNA sequence snippet

CCAGCCAGCGACGGCCTGGTTAGCCGCCTGCAGCCCAAGCA

altered gDNA sequence snippet

CCAGCCAGCGACGGCCTGGTCAGCCGCCTGCAGCCCAAGCA

original cDNA sequence snippet

CCAGCCAGCGACGGCCTGGTTAGCCGCCTGCAGCCCAAGCA

altered cDNA sequence snippet

CCAGCCAGCGACGGCCTGGTCAGCCGCCTGCAGCCCAAGCA

wildtype AA sequence

MCDLRRPAAG GMMDLAYVCE WEKWSKSTHC PSVPLACAWS CRNLIAFTMD LRSDDQDLTR
MIHILDTEHP WDLHSIPSEH HEAITCLEWD QSGSRLLSAD ADGQIKCWSM ADHLANSWES
SVGSLVEGDP IVALSWLHNG VKLALHVEKS GASSFGEKFS RVKFSPSLTL FGGKPMEGWI
AVTVSGLVTV SLLKPSGQVL TSTESLCRLR GRVALADIAF TGGGNIVVAT ADGSSASPVQ
FYKVCVSVVS EKCRIDTEIL PSLFMRCTTD LNRKDKFPAI THLKFLARDM SEQVLLCASS
QTSSIVECWS LRKEGLPVNN IFQQISPVVG DKQPTILKWR ILSATNDLDR VSAVALPKLP
ISLTNTDLKV ASDTQFYPGL GLALAFHDGS VHIVHRLSLQ TMAVFYSSAA PRPVDEPAMK
RPRTAGPAVH LKAMQLSWTS LALVGIDSHG KLSVLRLSPS MGHPLEVGLA LRHLLFLLEY
CMVTGYDWWD ILLHVQPSMV QSLVEKLHEE YTRQTAALQQ VLSTRILAMK ASLCKLSPCT
VTRVCDYHTK LFLIAISSTL KSLLRPHFLN TPDKSPGDRL TEICTKITDV DIDKVMINLK
TEEFVLDMNT LQALQQLLQW VGDFVLYLLA SLPNQGSLLR PGHSFLRDGT SLGMLRELMV
VIRIWGLLKP SCLPVYTATS DTQDSMSLLF RLLTKLWICF PSTGPCSVWV LLGWQPLPGR
DEGPASEPDE ALVDECCLLP SQLLIPSLDW LPASDGLVSR LQPKQPLRLQ FGRAPTLPGS
AATLQLDGLA RAPGQPKIDH LRRLHLGACP TEECKACTRC GCVTMLKSPN RTTAVKQWEQ
RWIKNCLCGG LWWRVPLSYP *

mutated AA sequence

MCDLRRPAAG GMMDLAYVCE WEKWSKSTHC PSVPLACAWS CRNLIAFTMD LRSDDQDLTR
MIHILDTEHP WDLHSIPSEH HEAITCLEWD QSGSRLLSAD ADGQIKCWSM ADHLANSWES
SVGSLVEGDP IVALSWLHNG VKLALHVEKS GASSFGEKFS RVKFSPSLTL FGGKPMEGWI
AVTVSGLVTV SLLKPSGQVL TSTESLCRLR GRVALADIAF TGGGNIVVAT ADGSSASPVQ
FYKVCVSVVS EKCRIDTEIL PSLFMRCTTD LNRKDKFPAI THLKFLARDM SEQVLLCASS
QTSSIVECWS LRKEGLPVNN IFQQISPVVG DKQPTILKWR ILSATNDLDR VSAVALPKLP
ISLTNTDLKV ASDTQFYPGL GLALAFHDGS VHIVHRLSLQ TMAVFYSSAA PRPVDEPAMK
RPRTAGPAVH LKAMQLSWTS LALVGIDSHG KLSVLRLSPS MGHPLEVGLA LRHLLFLLEY
CMVTGYDWWD ILLHVQPSMV QSLVEKLHEE YTRQTAALQQ VLSTRILAMK ASLCKLSPCT
VTRVCDYHTK LFLIAISSTL KSLLRPHFLN TPDKSPGDRL TEICTKITDV DIDKVMINLK
TEEFVLDMNT LQALQQLLQW VGDFVLYLLA SLPNQGSLLR PGHSFLRDGT SLGMLRELMV
VIRIWGLLKP SCLPVYTATS DTQDSMSLLF RLLTKLWICF PSTGPCSVWV LLGWQPLPGR
DEGPASEPDE ALVDECCLLP SQLLIPSLDW LPASDGLVSR LQPKQPLRLQ FGRAPTLPGS
AATLQLDGLA RAPGQPKIDH LRRLHLGACP TEECKACTRC GCVTMLKSPN RTTAVKQWEQ
RWIKNCLCGG LWWRVPLSYP *

speed

0.72 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 5.88213418637044e-13 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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)

chr19:871135A>GN/A show variant in all transcripts IGV

HGNC symbol

MED16

Ensembl transcript ID

ENST00000395808

Genbank transcript ID

N/A

UniProt peptide

Q9Y2X0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2217T>C
cDNA.2350T>C
g.22084T>C

AA changes

no AA changes

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

N/A

frameshift

known variant

Reference ID: rs1683569

database	homozygous (G/G)	heterozygous	allele carriers
1000G	261	804	1065
ExAC	618	2964	3582

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.391	1
	1.06	1
(flanking)	1.65	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
Donor increased	22085	wt: 0.23 / mu: 0.37	wt: TGGTTAGCCGCCTGC mu: TGGTCAGCCGCCTGC	GTTA\|gccg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
790	829	REPEAT	WD 5.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

position of stopcodon in wt / mu CDS

2526 / 2526

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

842 / 842

position of stopcodon in wt / mu cDNA

2659 / 2659

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

134 / 134

chromosome

strand

-1

last intron/exon boundary

2533

theoretical NMD boundary in CDS

2349

length of CDS

2526

coding sequence (CDS) position

2217

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

2350

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

22084

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

871135

original gDNA sequence snippet

CCAGCCAGCGACGGCCTGGTTAGCCGCCTGCAGCCCAAGCA

altered gDNA sequence snippet

CCAGCCAGCGACGGCCTGGTCAGCCGCCTGCAGCCCAAGCA

original cDNA sequence snippet

CCAGCCAGCGACGGCCTGGTTAGCCGCCTGCAGCCCAAGCA

altered cDNA sequence snippet

CCAGCCAGCGACGGCCTGGTCAGCCGCCTGCAGCCCAAGCA

wildtype AA sequence

MCDLRRPAAG GMMDLAYVCE WEKWSKSTHC PSVPLACAWS CRNLIAFTMD LRSDDQDLTR
MIHILDTEHP WDLHSIPSEH HEAITCLEWD QSGSRLLSAD ADGQIKCWSM ADHLANSWES
SVGSLVEGDP IVALSWLHNG VKLALHVEKS GASSFGEKFS RVKFSPSLTL FGGKPMEGWI
AVTVSGLVTV SLLKPSGQVL TSTESLCRLR GRVALADIAF TGGGNIVVAT ADGSSASPVQ
FYKVCVSVVS EKCRIDTEIL PSLFMRCTTD LNRKDKFPAI THLKFLARDM SEQVLLCASS
QTSSIVECWS LRKEGLPVNN IFQQISPVVG DKQPTILKWR ILSATNDLDR VSAVALPKLP
ISLTNTDLKV ASDTQFYPGL GLALAFHDGS VHIVHRLSLQ TMAVFYSSAA PRPVDEPAMK
RPRTAGPAVH LKAMQLSWTS LALVGIDSHG KLSVLRLSPS MGHPLEVGLA LRHLLFLLEY
CMVTGYDWWD ILLHVQPSMV QSLVEKLHEE YTRQTAALQQ VLSTRILAMK ASLCKLSPCT
VTRVCDYHTK LFLIAISSTL KSLLRPHFLN TPDKSPGDRL TEICTKITDV DIDKVMINLK
TEEFVLDMNT LQALQQLLQW VGDFVLYLLA SLPNQGSLLR PGHSFLRDGT SLGMLRELMV
VIRIWGLLKP SCLPVYTATS DTQDSMSLLF RLLTKLWICC RDEGPASEPD EALVDECCLL
PSQLLIPSLD WLPASDGLVS RLQPKQPLRL QFGRAPTLPG SAATLQLDGL ARAPGQPKID
HLRRLHLGAC PTEECKACTR CGCVTMLKSP NRTTAVKQWE QRWIKNCLCG GLWWRVPLSY
P*

mutated AA sequence

MCDLRRPAAG GMMDLAYVCE WEKWSKSTHC PSVPLACAWS CRNLIAFTMD LRSDDQDLTR
MIHILDTEHP WDLHSIPSEH HEAITCLEWD QSGSRLLSAD ADGQIKCWSM ADHLANSWES
SVGSLVEGDP IVALSWLHNG VKLALHVEKS GASSFGEKFS RVKFSPSLTL FGGKPMEGWI
AVTVSGLVTV SLLKPSGQVL TSTESLCRLR GRVALADIAF TGGGNIVVAT ADGSSASPVQ
FYKVCVSVVS EKCRIDTEIL PSLFMRCTTD LNRKDKFPAI THLKFLARDM SEQVLLCASS
QTSSIVECWS LRKEGLPVNN IFQQISPVVG DKQPTILKWR ILSATNDLDR VSAVALPKLP
ISLTNTDLKV ASDTQFYPGL GLALAFHDGS VHIVHRLSLQ TMAVFYSSAA PRPVDEPAMK
RPRTAGPAVH LKAMQLSWTS LALVGIDSHG KLSVLRLSPS MGHPLEVGLA LRHLLFLLEY
CMVTGYDWWD ILLHVQPSMV QSLVEKLHEE YTRQTAALQQ VLSTRILAMK ASLCKLSPCT
VTRVCDYHTK LFLIAISSTL KSLLRPHFLN TPDKSPGDRL TEICTKITDV DIDKVMINLK
TEEFVLDMNT LQALQQLLQW VGDFVLYLLA SLPNQGSLLR PGHSFLRDGT SLGMLRELMV
VIRIWGLLKP SCLPVYTATS DTQDSMSLLF RLLTKLWICC RDEGPASEPD EALVDECCLL
PSQLLIPSLD WLPASDGLVS RLQPKQPLRL QFGRAPTLPG SAATLQLDGL ARAPGQPKID
HLRRLHLGAC PTEECKACTR CGCVTMLKSP NRTTAVKQWE QRWIKNCLCG GLWWRVPLSY
P*

speed

0.50 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 5.88213418637044e-13 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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)

chr19:871135A>GN/A show variant in all transcripts IGV

HGNC symbol

MED16

Ensembl transcript ID

ENST00000589119

Genbank transcript ID

N/A

UniProt peptide

Q9Y2X0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2217T>C
cDNA.2217T>C
g.22084T>C

AA changes

no AA changes

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

N/A

frameshift

known variant

Reference ID: rs1683569

database	homozygous (G/G)	heterozygous	allele carriers
1000G	261	804	1065
ExAC	618	2964	3582

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.391	1
	1.06	1
(flanking)	1.65	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
Donor increased	22085	wt: 0.23 / mu: 0.37	wt: TGGTTAGCCGCCTGC mu: TGGTCAGCCGCCTGC	GTTA\|gccg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
790	829	REPEAT	WD 5.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

position of stopcodon in wt / mu CDS

2634 / 2634

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

878 / 878

position of stopcodon in wt / mu cDNA

2634 / 2634

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

1 / 1

chromosome

strand

-1

last intron/exon boundary

2484

theoretical NMD boundary in CDS

2433

length of CDS

2634

coding sequence (CDS) position

2217

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

2217

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

22084

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

871135

original gDNA sequence snippet

CCAGCCAGCGACGGCCTGGTTAGCCGCCTGCAGCCCAAGCA

altered gDNA sequence snippet

CCAGCCAGCGACGGCCTGGTCAGCCGCCTGCAGCCCAAGCA

original cDNA sequence snippet

CCAGCCAGCGACGGCCTGGTTAGCCGCCTGCAGCCCAAGCA

altered cDNA sequence snippet

CCAGCCAGCGACGGCCTGGTCAGCCGCCTGCAGCCCAAGCA

wildtype AA sequence

MCDLRRPAAG GMMDLAYVCE WEKWSKSTHC PSVPLACAWS CRNLIAFTMD LRSDDQDLTR
MIHILDTEHP WDLHSIPSEH HEAITCLEWD QSGSRLLSAD ADGQIKCWSM ADHLANSWES
SVGSLVEGDP IVALSWLHNG VKLALHVEKS GASSFGEKFS RVKFSPSLTL FGGKPMEGWI
AVTVSGLVTV SLLKPSGQVL TSTESLCRLR GRVALADIAF TGGGNIVVAT ADGSSASPVQ
FYKVCVSVVS EKCRIDTEIL PSLFMRCTTD LNRKDKFPAI THLKFLARDM SEQVLLCASS
QTSSIVECWS LRKEGLPVNN IFQQISPVVG DKQPTILKWR ILSATNDLDR VSAVALPKLP
ISLTNTDLKV ASDTQFYPGL GLALAFHDGS VHIVHRLSLQ TMAVFYSSAA PRPVDEPAMK
RPRTAGPAVH LKAMQLSWTS LALVGIDSHG KLSVLRLSPS MGHPLEVGLA LRHLLFLLEY
CMVTGYDWWD ILLHVQPSMV QSLVEKLHEE YTRQTAALQQ VLSTRILAMK ASLCKLSPCT
VTRVCDYHTK LFLIAISSTL KSLLRPHFLN TPDKSPGDRL TEICTKITDV DIDKVMINLK
TEEFVLDMNT LQALQQLLQW VGDFVLYLLA SLPNQGSLLR PGHSFLRDGT SLGMLRELMV
VIRIWGLLKP SCLPVYTATS DTQDSMSLLF RLLTKLWICC RDEGPASEPD EALVDECCLL
PSQLLIPSLD WLPASDGLVS RLQPKQPLRL QFGRAPTLPG SAATLQLDGL ARAPGQPKID
HLRRLHLGAC PTEECKACTR CGCVTMLKSP NRTTAVKQWE QRWIKNCLAV EGRGPDACVT
SRASEEAPAF VQLGPQSTHH SPRTPRSLDH LHPEDRP*

mutated AA sequence

MCDLRRPAAG GMMDLAYVCE WEKWSKSTHC PSVPLACAWS CRNLIAFTMD LRSDDQDLTR
MIHILDTEHP WDLHSIPSEH HEAITCLEWD QSGSRLLSAD ADGQIKCWSM ADHLANSWES
SVGSLVEGDP IVALSWLHNG VKLALHVEKS GASSFGEKFS RVKFSPSLTL FGGKPMEGWI
AVTVSGLVTV SLLKPSGQVL TSTESLCRLR GRVALADIAF TGGGNIVVAT ADGSSASPVQ
FYKVCVSVVS EKCRIDTEIL PSLFMRCTTD LNRKDKFPAI THLKFLARDM SEQVLLCASS
QTSSIVECWS LRKEGLPVNN IFQQISPVVG DKQPTILKWR ILSATNDLDR VSAVALPKLP
ISLTNTDLKV ASDTQFYPGL GLALAFHDGS VHIVHRLSLQ TMAVFYSSAA PRPVDEPAMK
RPRTAGPAVH LKAMQLSWTS LALVGIDSHG KLSVLRLSPS MGHPLEVGLA LRHLLFLLEY
CMVTGYDWWD ILLHVQPSMV QSLVEKLHEE YTRQTAALQQ VLSTRILAMK ASLCKLSPCT
VTRVCDYHTK LFLIAISSTL KSLLRPHFLN TPDKSPGDRL TEICTKITDV DIDKVMINLK
TEEFVLDMNT LQALQQLLQW VGDFVLYLLA SLPNQGSLLR PGHSFLRDGT SLGMLRELMV
VIRIWGLLKP SCLPVYTATS DTQDSMSLLF RLLTKLWICC RDEGPASEPD EALVDECCLL
PSQLLIPSLD WLPASDGLVS RLQPKQPLRL QFGRAPTLPG SAATLQLDGL ARAPGQPKID
HLRRLHLGAC PTEECKACTR CGCVTMLKSP NRTTAVKQWE QRWIKNCLAV EGRGPDACVT
SRASEEAPAF VQLGPQSTHH SPRTPRSLDH LHPEDRP*

speed

0.72 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 5.88213418637044e-13 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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)

chr19:871135A>GN/A show variant in all transcripts IGV

HGNC symbol

MED16

Ensembl transcript ID

ENST00000325464

Genbank transcript ID

NM_005481

UniProt peptide

Q9Y2X0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2217T>C
cDNA.2368T>C
g.22084T>C

AA changes

no AA changes

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

N/A

frameshift

known variant

Reference ID: rs1683569

database	homozygous (G/G)	heterozygous	allele carriers
1000G	261	804	1065
ExAC	618	2964	3582

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.391	1
	1.06	1
(flanking)	1.65	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
Donor increased	22085	wt: 0.23 / mu: 0.37	wt: TGGTTAGCCGCCTGC mu: TGGTCAGCCGCCTGC	GTTA\|gccg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
790	829	REPEAT	WD 5.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

position of stopcodon in wt / mu CDS

2634 / 2634

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

878 / 878

position of stopcodon in wt / mu cDNA

2785 / 2785

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

152 / 152

chromosome

strand

-1

last intron/exon boundary

2635

theoretical NMD boundary in CDS

2433

length of CDS

2634

coding sequence (CDS) position

2217

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

2368

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

22084

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

871135

original gDNA sequence snippet

CCAGCCAGCGACGGCCTGGTTAGCCGCCTGCAGCCCAAGCA

altered gDNA sequence snippet

CCAGCCAGCGACGGCCTGGTCAGCCGCCTGCAGCCCAAGCA

original cDNA sequence snippet

CCAGCCAGCGACGGCCTGGTTAGCCGCCTGCAGCCCAAGCA

altered cDNA sequence snippet

CCAGCCAGCGACGGCCTGGTCAGCCGCCTGCAGCCCAAGCA

wildtype AA sequence

MCDLRRPAAG GMMDLAYVCE WEKWSKSTHC PSVPLACAWS CRNLIAFTMD LRSDDQDLTR
MIHILDTEHP WDLHSIPSEH HEAITCLEWD QSGSRLLSAD ADGQIKCWSM ADHLANSWES
SVGSLVEGDP IVALSWLHNG VKLALHVEKS GASSFGEKFS RVKFSPSLTL FGGKPMEGWI
AVTVSGLVTV SLLKPSGQVL TSTESLCRLR GRVALADIAF TGGGNIVVAT ADGSSASPVQ
FYKVCVSVVS EKCRIDTEIL PSLFMRCTTD LNRKDKFPAI THLKFLARDM SEQVLLCASS
QTSSIVECWS LRKEGLPVNN IFQQISPVVG DKQPTILKWR ILSATNDLDR VSAVALPKLP
ISLTNTDLKV ASDTQFYPGL GLALAFHDGS VHIVHRLSLQ TMAVFYSSAA PRPVDEPAMK
RPRTAGPAVH LKAMQLSWTS LALVGIDSHG KLSVLRLSPS MGHPLEVGLA LRHLLFLLEY
CMVTGYDWWD ILLHVQPSMV QSLVEKLHEE YTRQTAALQQ VLSTRILAMK ASLCKLSPCT
VTRVCDYHTK LFLIAISSTL KSLLRPHFLN TPDKSPGDRL TEICTKITDV DIDKVMINLK
TEEFVLDMNT LQALQQLLQW VGDFVLYLLA SLPNQGSLLR PGHSFLRDGT SLGMLRELMV
VIRIWGLLKP SCLPVYTATS DTQDSMSLLF RLLTKLWICC RDEGPASEPD EALVDECCLL
PSQLLIPSLD WLPASDGLVS RLQPKQPLRL QFGRAPTLPG SAATLQLDGL ARAPGQPKID
HLRRLHLGAC PTEECKACTR CGCVTMLKSP NRTTAVKQWE QRWIKNCLAV EGRGPDACVT
SRASEEAPAF VQLGPQSTHH SPRTPRSLDH LHPEDRP*

mutated AA sequence

MCDLRRPAAG GMMDLAYVCE WEKWSKSTHC PSVPLACAWS CRNLIAFTMD LRSDDQDLTR
MIHILDTEHP WDLHSIPSEH HEAITCLEWD QSGSRLLSAD ADGQIKCWSM ADHLANSWES
SVGSLVEGDP IVALSWLHNG VKLALHVEKS GASSFGEKFS RVKFSPSLTL FGGKPMEGWI
AVTVSGLVTV SLLKPSGQVL TSTESLCRLR GRVALADIAF TGGGNIVVAT ADGSSASPVQ
FYKVCVSVVS EKCRIDTEIL PSLFMRCTTD LNRKDKFPAI THLKFLARDM SEQVLLCASS
QTSSIVECWS LRKEGLPVNN IFQQISPVVG DKQPTILKWR ILSATNDLDR VSAVALPKLP
ISLTNTDLKV ASDTQFYPGL GLALAFHDGS VHIVHRLSLQ TMAVFYSSAA PRPVDEPAMK
RPRTAGPAVH LKAMQLSWTS LALVGIDSHG KLSVLRLSPS MGHPLEVGLA LRHLLFLLEY
CMVTGYDWWD ILLHVQPSMV QSLVEKLHEE YTRQTAALQQ VLSTRILAMK ASLCKLSPCT
VTRVCDYHTK LFLIAISSTL KSLLRPHFLN TPDKSPGDRL TEICTKITDV DIDKVMINLK
TEEFVLDMNT LQALQQLLQW VGDFVLYLLA SLPNQGSLLR PGHSFLRDGT SLGMLRELMV
VIRIWGLLKP SCLPVYTATS DTQDSMSLLF RLLTKLWICC RDEGPASEPD EALVDECCLL
PSQLLIPSLD WLPASDGLVS RLQPKQPLRL QFGRAPTLPG SAATLQLDGL ARAPGQPKID
HLRRLHLGAC PTEECKACTR CGCVTMLKSP NRTTAVKQWE QRWIKNCLAV EGRGPDACVT
SRASEEAPAF VQLGPQSTHH SPRTPRSLDH LHPEDRP*

speed

0.60 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems