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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000287097
Querying Taster for transcript #2: ENST00000437994
Querying Taster for transcript #3: ENST00000422508
MT speed 0 s - this script 2.778699 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CD109	polymorphism_automatic	5.38847137498966e-06	simple_aae		affected		N797S	single base exchange	rs2351528		show file
CD109	polymorphism_automatic	5.38847137498966e-06	simple_aae		affected		N797S	single base exchange	rs2351528		show file
CD109	polymorphism_automatic	5.38847137498966e-06	simple_aae		affected		N720S	single base exchange	rs2351528		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999994611528625 (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)

chr6:74497009A>GN/A show variant in all transcripts IGV

HGNC symbol

CD109

Ensembl transcript ID

ENST00000287097

Genbank transcript ID

NM_133493

UniProt peptide

Q6YHK3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2390A>G
cDNA.2502A>G
g.91502A>G

AA changes

N797S Score: 46 explain score(s)

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

797

frameshift

known variant

Reference ID: rs2351528

database	homozygous (G/G)	heterozygous	allele carriers
1000G	366	1133	1499
ExAC	8486	15795	24281

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.889	0.772
	0.312	0.815
(flanking)	0.658	0.916

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	91496	wt: 0.60 / mu: 0.97	wt: AATGACTTCAAATGA mu: AATGACTTCAAGTGA	TGAC\|ttca
Donor increased	91501	wt: 0.80 / mu: 1.00	wt: CTTCAAATGAAATAA mu: CTTCAAGTGAAATAA	TCAA\|atga
Acc gained	91501	0.36	mu: TTGATATTCTAATGACTTCAAGTGAAATAAATGCCACAGGC	tcaa\|GTGA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

797

mutated

all conserved

797

Ptroglodytes

all conserved

ENSPTRG00000018349

797

Mmulatta

all conserved

ENSMMUG00000017806

796

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000046186

799

Ggallus

no homologue

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000060609

830

Dmelanogaster

no homologue

Celegans

not conserved

ZK337.1

861

VVRR

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
803	803	CONFLICT	G -> S (in Ref. 2; AAN78483).	might get lost (downstream of altered splice site)
921	924	CROSSLNK	Isoglutamyl cysteine thioester (Cys-Gln) (By similarity).	might get lost (downstream of altered splice site)
1046	1046	CONFLICT	V -> A (in Ref. 5; ABQ66266).	might get lost (downstream of altered splice site)
1086	1086	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1418	1418	CONFLICT	D -> N (in Ref. 4; BAG53987).	might get lost (downstream of altered splice site)
1420	1420	LIPID	GPI-anchor amidated alanine (Potential).	might get lost (downstream of altered splice site)
1421	1445	PROPEP	Removed in mature form (Potential). /FTId=PRO_0000255946.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4338 / 4338

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

1446 / 1446

position of stopcodon in wt / mu cDNA

4450 / 4450

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

113 / 113

chromosome

strand

last intron/exon boundary

4275

theoretical NMD boundary in CDS

4112

length of CDS

4338

coding sequence (CDS) position

2390

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

2502

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

91502

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

74497009

original gDNA sequence snippet

TGATATTCTAATGACTTCAAATGAAATAAATGCCACAGGCC

altered gDNA sequence snippet

TGATATTCTAATGACTTCAAGTGAAATAAATGCCACAGGCC

original cDNA sequence snippet

TGATATTCTAATGACTTCAAATGAAATAAATGCCACAGGCC

altered cDNA sequence snippet

TGATATTCTAATGACTTCAAGTGAAATAAATGCCACAGGCC

wildtype AA sequence

MQGPPLLTAA HLLCVCTAAL AVAPGPRFLV TAPGIIRPGG NVTIGVELLE HCPSQVTVKA
ELLKTASNLT VSVLEAEGVF EKGSFKTLTL PSLPLNSADE IYELRVTGRT QDEILFSNST
RLSFETKRIS VFIQTDKALY KPKQEVKFRI VTLFSDFKPY KTSLNILIKD PKSNLIQQWL
SQQSDLGVIS KTFQLSSHPI LGDWSIQVQV NDQTYYQSFQ VSEYVLPKFE VTLQTPLYCS
MNSKHLNGTI TAKYTYGKPV KGDVTLTFLP LSFWGKKKNI TKTFKINGSA NFSFNDEEMK
NVMDSSNGLS EYLDLSSPGP VEILTTVTES VTGISRNVST NVFFKQHDYI IEFFDYTTVL
KPSLNFTATV KVTRADGNQL TLEERRNNVV ITVTQRNYTE YWSGSNSGNQ KMEAVQKINY
TVPQSGTFKI EFPILEDSSE LQLKAYFLGS KSSMAVHSLF KSPSKTYIQL KTRDENIKVG
SPFELVVSGN KRLKELSYMV VSRGQLVAVG KQNSTMFSLT PENSWTPKAC VIVYYIEDDG
EIISDVLKIP VQLVFKNKIK LYWSKVKAEP SEKVSLRISV TQPDSIVGIV AVDKSVNLMN
ASNDITMENV VHELELYNTG YYLGMFMNSF AVFQECGLWV LTDANLTKDY IDGVYDNAEY
AERFMEENEG HIVDIHDFSL GSSPHVRKHF PETWIWLDTN MGYRIYQEFE VTVPDSITSW
VATGFVISED LGLGLTTTPV ELQAFQPFFI FLNLPYSVIR GEEFALEITI FNYLKDATEV
KVIIEKSDKF DILMTSNEIN ATGHQQTLLV PSEDGATVLF PIRPTHLGEI PITVTALSPT
ASDAVTQMIL VKAEGIEKSY SQSILLDLTD NRLQSTLKTL SFSFPPNTVT GSERVQITAI
GDVLGPSING LASLIRMPYG CGEQNMINFA PNIYILDYLT KKKQLTDNLK EKALSFMRQG
YQRELLYQRE DGSFSAFGNY DPSGSTWLSA FVLRCFLEAD PYIDIDQNVL HRTYTWLKGH
QKSNGEFWDP GRVIHSELQG GNKSPVTLTA YIVTSLLGYR KYQPNIDVQE SIHFLESEFS
RGISDNYTLA LITYALSSVG SPKAKEALNM LTWRAEQEGG MQFWVSSESK LSDSWQPRSL
DIEVAAYALL SHFLQFQTSE GIPIMRWLSR QRNSLGGFAS TQDTTVALKA LSEFAALMNT
ERTNIQVTVT GPSSPSPVKF LIDTHNRLLL QTAELAVVQP TAVNISANGF GFAICQLNVV
YNVKASGSSR RRRSIQNQEA FDLDVAVKEN KDDLNHVDLN VCTSFSGPGR SGMALMEVNL
LSGFMVPSEA ISLSETVKKV EYDHGKLNLY LDSVNETQFC VNIPAVRNFK VSNTQDASVS
IVDYYEPRRQ AVRSYNSEVK LSSCDLCSDV QGCRPCEDGA SGSHHHSSVI FIFCFKLLYF
MELWL*

mutated AA sequence

MQGPPLLTAA HLLCVCTAAL AVAPGPRFLV TAPGIIRPGG NVTIGVELLE HCPSQVTVKA
ELLKTASNLT VSVLEAEGVF EKGSFKTLTL PSLPLNSADE IYELRVTGRT QDEILFSNST
RLSFETKRIS VFIQTDKALY KPKQEVKFRI VTLFSDFKPY KTSLNILIKD PKSNLIQQWL
SQQSDLGVIS KTFQLSSHPI LGDWSIQVQV NDQTYYQSFQ VSEYVLPKFE VTLQTPLYCS
MNSKHLNGTI TAKYTYGKPV KGDVTLTFLP LSFWGKKKNI TKTFKINGSA NFSFNDEEMK
NVMDSSNGLS EYLDLSSPGP VEILTTVTES VTGISRNVST NVFFKQHDYI IEFFDYTTVL
KPSLNFTATV KVTRADGNQL TLEERRNNVV ITVTQRNYTE YWSGSNSGNQ KMEAVQKINY
TVPQSGTFKI EFPILEDSSE LQLKAYFLGS KSSMAVHSLF KSPSKTYIQL KTRDENIKVG
SPFELVVSGN KRLKELSYMV VSRGQLVAVG KQNSTMFSLT PENSWTPKAC VIVYYIEDDG
EIISDVLKIP VQLVFKNKIK LYWSKVKAEP SEKVSLRISV TQPDSIVGIV AVDKSVNLMN
ASNDITMENV VHELELYNTG YYLGMFMNSF AVFQECGLWV LTDANLTKDY IDGVYDNAEY
AERFMEENEG HIVDIHDFSL GSSPHVRKHF PETWIWLDTN MGYRIYQEFE VTVPDSITSW
VATGFVISED LGLGLTTTPV ELQAFQPFFI FLNLPYSVIR GEEFALEITI FNYLKDATEV
KVIIEKSDKF DILMTSSEIN ATGHQQTLLV PSEDGATVLF PIRPTHLGEI PITVTALSPT
ASDAVTQMIL VKAEGIEKSY SQSILLDLTD NRLQSTLKTL SFSFPPNTVT GSERVQITAI
GDVLGPSING LASLIRMPYG CGEQNMINFA PNIYILDYLT KKKQLTDNLK EKALSFMRQG
YQRELLYQRE DGSFSAFGNY DPSGSTWLSA FVLRCFLEAD PYIDIDQNVL HRTYTWLKGH
QKSNGEFWDP GRVIHSELQG GNKSPVTLTA YIVTSLLGYR KYQPNIDVQE SIHFLESEFS
RGISDNYTLA LITYALSSVG SPKAKEALNM LTWRAEQEGG MQFWVSSESK LSDSWQPRSL
DIEVAAYALL SHFLQFQTSE GIPIMRWLSR QRNSLGGFAS TQDTTVALKA LSEFAALMNT
ERTNIQVTVT GPSSPSPVKF LIDTHNRLLL QTAELAVVQP TAVNISANGF GFAICQLNVV
YNVKASGSSR RRRSIQNQEA FDLDVAVKEN KDDLNHVDLN VCTSFSGPGR SGMALMEVNL
LSGFMVPSEA ISLSETVKKV EYDHGKLNLY LDSVNETQFC VNIPAVRNFK VSNTQDASVS
IVDYYEPRRQ AVRSYNSEVK LSSCDLCSDV QGCRPCEDGA SGSHHHSSVI FIFCFKLLYF
MELWL*

speed

0.37 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: 0.999994611528625 (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)

chr6:74497009A>GN/A show variant in all transcripts IGV

HGNC symbol

CD109

Ensembl transcript ID

ENST00000437994

Genbank transcript ID

NM_001159587

UniProt peptide

Q6YHK3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2390A>G
cDNA.2821A>G
g.91502A>G

AA changes

N797S Score: 46 explain score(s)

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

797

frameshift

known variant

Reference ID: rs2351528

database	homozygous (G/G)	heterozygous	allele carriers
1000G	366	1133	1499
ExAC	8486	15795	24281

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.889	0.772
	0.312	0.815
(flanking)	0.658	0.916

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	91496	wt: 0.60 / mu: 0.97	wt: AATGACTTCAAATGA mu: AATGACTTCAAGTGA	TGAC\|ttca
Donor increased	91501	wt: 0.80 / mu: 1.00	wt: CTTCAAATGAAATAA mu: CTTCAAGTGAAATAA	TCAA\|atga
Acc gained	91501	0.36	mu: TTGATATTCTAATGACTTCAAGTGAAATAAATGCCACAGGC	tcaa\|GTGA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

797

mutated

all conserved

797

Ptroglodytes

all conserved

ENSPTRG00000018349

797

Mmulatta

all conserved

ENSMMUG00000017806

796

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000046186

799

Ggallus

no homologue

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000060609

830

Dmelanogaster

no homologue

Celegans

not conserved

ZK337.1

861

VVRR

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
803	803	CONFLICT	G -> S (in Ref. 2; AAN78483).	might get lost (downstream of altered splice site)
921	924	CROSSLNK	Isoglutamyl cysteine thioester (Cys-Gln) (By similarity).	might get lost (downstream of altered splice site)
1046	1046	CONFLICT	V -> A (in Ref. 5; ABQ66266).	might get lost (downstream of altered splice site)
1086	1086	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1418	1418	CONFLICT	D -> N (in Ref. 4; BAG53987).	might get lost (downstream of altered splice site)
1420	1420	LIPID	GPI-anchor amidated alanine (Potential).	might get lost (downstream of altered splice site)
1421	1445	PROPEP	Removed in mature form (Potential). /FTId=PRO_0000255946.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4287 / 4287

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

1429 / 1429

position of stopcodon in wt / mu cDNA

4718 / 4718

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

432 / 432

chromosome

strand

last intron/exon boundary

4543

theoretical NMD boundary in CDS

4061

length of CDS

4287

coding sequence (CDS) position

2390

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

2821

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

91502

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

74497009

original gDNA sequence snippet

TGATATTCTAATGACTTCAAATGAAATAAATGCCACAGGCC

altered gDNA sequence snippet

TGATATTCTAATGACTTCAAGTGAAATAAATGCCACAGGCC

original cDNA sequence snippet

TGATATTCTAATGACTTCAAATGAAATAAATGCCACAGGCC

altered cDNA sequence snippet

TGATATTCTAATGACTTCAAGTGAAATAAATGCCACAGGCC

wildtype AA sequence

MQGPPLLTAA HLLCVCTAAL AVAPGPRFLV TAPGIIRPGG NVTIGVELLE HCPSQVTVKA
ELLKTASNLT VSVLEAEGVF EKGSFKTLTL PSLPLNSADE IYELRVTGRT QDEILFSNST
RLSFETKRIS VFIQTDKALY KPKQEVKFRI VTLFSDFKPY KTSLNILIKD PKSNLIQQWL
SQQSDLGVIS KTFQLSSHPI LGDWSIQVQV NDQTYYQSFQ VSEYVLPKFE VTLQTPLYCS
MNSKHLNGTI TAKYTYGKPV KGDVTLTFLP LSFWGKKKNI TKTFKINGSA NFSFNDEEMK
NVMDSSNGLS EYLDLSSPGP VEILTTVTES VTGISRNVST NVFFKQHDYI IEFFDYTTVL
KPSLNFTATV KVTRADGNQL TLEERRNNVV ITVTQRNYTE YWSGSNSGNQ KMEAVQKINY
TVPQSGTFKI EFPILEDSSE LQLKAYFLGS KSSMAVHSLF KSPSKTYIQL KTRDENIKVG
SPFELVVSGN KRLKELSYMV VSRGQLVAVG KQNSTMFSLT PENSWTPKAC VIVYYIEDDG
EIISDVLKIP VQLVFKNKIK LYWSKVKAEP SEKVSLRISV TQPDSIVGIV AVDKSVNLMN
ASNDITMENV VHELELYNTG YYLGMFMNSF AVFQECGLWV LTDANLTKDY IDGVYDNAEY
AERFMEENEG HIVDIHDFSL GSSPHVRKHF PETWIWLDTN MGYRIYQEFE VTVPDSITSW
VATGFVISED LGLGLTTTPV ELQAFQPFFI FLNLPYSVIR GEEFALEITI FNYLKDATEV
KVIIEKSDKF DILMTSNEIN ATGHQQTLLV PSEDGATVLF PIRPTHLGEI PITVTALSPT
ASDAVTQMIL VKAEGIEKSY SQSILLDLTD NRLQSTLKTL SFSFPPNTVT GSERVQITAI
GDVLGPSING LASLIRMPYG CGEQNMINFA PNIYILDYLT KKKQLTDNLK EKALSFMRQG
YQRELLYQRE DGSFSAFGNY DPSGSTWLSA FVLRCFLEAD PYIDIDQNVL HRTYTWLKGH
QKSNGEFWDP GRVIHSELQG GNKSPVTLTA YIVTSLLGYR KYQPNIDVQE SIHFLESEFS
RGISDNYTLA LITYALSSVG SPKAKEALNM LTWRAEQEGG MQFWVSSESK LSDSWQPRSL
DIEVAAYALL SHFLQFQTSE GIPIMRWLSR QRNSLGGFAS TQDTTVALKA LSEFAALMNT
ERTNIQVTVT GPSSPSPLAV VQPTAVNISA NGFGFAICQL NVVYNVKASG SSRRRRSIQN
QEAFDLDVAV KENKDDLNHV DLNVCTSFSG PGRSGMALME VNLLSGFMVP SEAISLSETV
KKVEYDHGKL NLYLDSVNET QFCVNIPAVR NFKVSNTQDA SVSIVDYYEP RRQAVRSYNS
EVKLSSCDLC SDVQGCRPCE DGASGSHHHS SVIFIFCFKL LYFMELWL*

mutated AA sequence

MQGPPLLTAA HLLCVCTAAL AVAPGPRFLV TAPGIIRPGG NVTIGVELLE HCPSQVTVKA
ELLKTASNLT VSVLEAEGVF EKGSFKTLTL PSLPLNSADE IYELRVTGRT QDEILFSNST
RLSFETKRIS VFIQTDKALY KPKQEVKFRI VTLFSDFKPY KTSLNILIKD PKSNLIQQWL
SQQSDLGVIS KTFQLSSHPI LGDWSIQVQV NDQTYYQSFQ VSEYVLPKFE VTLQTPLYCS
MNSKHLNGTI TAKYTYGKPV KGDVTLTFLP LSFWGKKKNI TKTFKINGSA NFSFNDEEMK
NVMDSSNGLS EYLDLSSPGP VEILTTVTES VTGISRNVST NVFFKQHDYI IEFFDYTTVL
KPSLNFTATV KVTRADGNQL TLEERRNNVV ITVTQRNYTE YWSGSNSGNQ KMEAVQKINY
TVPQSGTFKI EFPILEDSSE LQLKAYFLGS KSSMAVHSLF KSPSKTYIQL KTRDENIKVG
SPFELVVSGN KRLKELSYMV VSRGQLVAVG KQNSTMFSLT PENSWTPKAC VIVYYIEDDG
EIISDVLKIP VQLVFKNKIK LYWSKVKAEP SEKVSLRISV TQPDSIVGIV AVDKSVNLMN
ASNDITMENV VHELELYNTG YYLGMFMNSF AVFQECGLWV LTDANLTKDY IDGVYDNAEY
AERFMEENEG HIVDIHDFSL GSSPHVRKHF PETWIWLDTN MGYRIYQEFE VTVPDSITSW
VATGFVISED LGLGLTTTPV ELQAFQPFFI FLNLPYSVIR GEEFALEITI FNYLKDATEV
KVIIEKSDKF DILMTSSEIN ATGHQQTLLV PSEDGATVLF PIRPTHLGEI PITVTALSPT
ASDAVTQMIL VKAEGIEKSY SQSILLDLTD NRLQSTLKTL SFSFPPNTVT GSERVQITAI
GDVLGPSING LASLIRMPYG CGEQNMINFA PNIYILDYLT KKKQLTDNLK EKALSFMRQG
YQRELLYQRE DGSFSAFGNY DPSGSTWLSA FVLRCFLEAD PYIDIDQNVL HRTYTWLKGH
QKSNGEFWDP GRVIHSELQG GNKSPVTLTA YIVTSLLGYR KYQPNIDVQE SIHFLESEFS
RGISDNYTLA LITYALSSVG SPKAKEALNM LTWRAEQEGG MQFWVSSESK LSDSWQPRSL
DIEVAAYALL SHFLQFQTSE GIPIMRWLSR QRNSLGGFAS TQDTTVALKA LSEFAALMNT
ERTNIQVTVT GPSSPSPLAV VQPTAVNISA NGFGFAICQL NVVYNVKASG SSRRRRSIQN
QEAFDLDVAV KENKDDLNHV DLNVCTSFSG PGRSGMALME VNLLSGFMVP SEAISLSETV
KKVEYDHGKL NLYLDSVNET QFCVNIPAVR NFKVSNTQDA SVSIVDYYEP RRQAVRSYNS
EVKLSSCDLC SDVQGCRPCE DGASGSHHHS SVIFIFCFKL LYFMELWL*

speed

0.39 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999994611528625 (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)

chr6:74497009A>GN/A show variant in all transcripts IGV

HGNC symbol

CD109

Ensembl transcript ID

ENST00000422508

Genbank transcript ID

NM_001159588

UniProt peptide

Q6YHK3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2159A>G
cDNA.2590A>G
g.91502A>G

AA changes

N720S Score: 46 explain score(s)

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

720

frameshift

known variant

Reference ID: rs2351528

database	homozygous (G/G)	heterozygous	allele carriers
1000G	366	1133	1499
ExAC	8486	15795	24281

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.889	0.772
	0.312	0.815
(flanking)	0.658	0.916

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	91496	wt: 0.60 / mu: 0.97	wt: AATGACTTCAAATGA mu: AATGACTTCAAGTGA	TGAC\|ttca
Donor increased	91501	wt: 0.80 / mu: 1.00	wt: CTTCAAATGAAATAA mu: CTTCAAGTGAAATAA	TCAA\|atga
Acc gained	91501	0.36	mu: TTGATATTCTAATGACTTCAAGTGAAATAAATGCCACAGGC	tcaa\|GTGA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

720

mutated

all conserved

720

Ptroglodytes

all conserved

ENSPTRG00000018349

797

Mmulatta

all conserved

ENSMMUG00000017806

796

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000046186

799

Ggallus

no homologue

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000060609

830

Dmelanogaster

no homologue

Celegans

not conserved

ZK337.1

861

VVRR

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
789	789	CONFLICT	K -> E (in Ref. 4; BAG36395).	might get lost (downstream of altered splice site)
803	803	CONFLICT	G -> S (in Ref. 2; AAN78483).	might get lost (downstream of altered splice site)
921	924	CROSSLNK	Isoglutamyl cysteine thioester (Cys-Gln) (By similarity).	might get lost (downstream of altered splice site)
1046	1046	CONFLICT	V -> A (in Ref. 5; ABQ66266).	might get lost (downstream of altered splice site)
1086	1086	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1418	1418	CONFLICT	D -> N (in Ref. 4; BAG53987).	might get lost (downstream of altered splice site)
1420	1420	LIPID	GPI-anchor amidated alanine (Potential).	might get lost (downstream of altered splice site)
1421	1445	PROPEP	Removed in mature form (Potential). /FTId=PRO_0000255946.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4107 / 4107

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

1369 / 1369

position of stopcodon in wt / mu cDNA

4538 / 4538

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

432 / 432

chromosome

strand

last intron/exon boundary

4363

theoretical NMD boundary in CDS

3881

length of CDS

4107

coding sequence (CDS) position

2159

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

2590

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

91502

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

74497009

original gDNA sequence snippet

TGATATTCTAATGACTTCAAATGAAATAAATGCCACAGGCC

altered gDNA sequence snippet

TGATATTCTAATGACTTCAAGTGAAATAAATGCCACAGGCC

original cDNA sequence snippet

TGATATTCTAATGACTTCAAATGAAATAAATGCCACAGGCC

altered cDNA sequence snippet

TGATATTCTAATGACTTCAAGTGAAATAAATGCCACAGGCC

wildtype AA sequence

MQGPPLLTAA HLLCVCTAAL AVAPGPRFLV TAPGIIRPGG NVTIGVELLE HCPSQVTVKA
ELLKTASNLT VSVLEAEGVF EKGSFKTLTL PSDPKSNLIQ QWLSQQSDLG VISKTFQLSS
HPILGDWSIQ VQVNDQTYYQ SFQVSEYVLP KFEVTLQTPL YCSMNSKHLN GTITAKYTYG
KPVKGDVTLT FLPLSFWGKK KNITKTFKIN GSANFSFNDE EMKNVMDSSN GLSEYLDLSS
PGPVEILTTV TESVTGISRN VSTNVFFKQH DYIIEFFDYT TVLKPSLNFT ATVKVTRADG
NQLTLEERRN NVVITVTQRN YTEYWSGSNS GNQKMEAVQK INYTVPQSGT FKIEFPILED
SSELQLKAYF LGSKSSMAVH SLFKSPSKTY IQLKTRDENI KVGSPFELVV SGNKRLKELS
YMVVSRGQLV AVGKQNSTMF SLTPENSWTP KACVIVYYIE DDGEIISDVL KIPVQLVFKN
KIKLYWSKVK AEPSEKVSLR ISVTQPDSIV GIVAVDKSVN LMNASNDITM ENVVHELELY
NTGYYLGMFM NSFAVFQECG LWVLTDANLT KDYIDGVYDN AEYAERFMEE NEGHIVDIHD
FSLGSSPHVR KHFPETWIWL DTNMGYRIYQ EFEVTVPDSI TSWVATGFVI SEDLGLGLTT
TPVELQAFQP FFIFLNLPYS VIRGEEFALE ITIFNYLKDA TEVKVIIEKS DKFDILMTSN
EINATGHQQT LLVPSEDGAT VLFPIRPTHL GEIPITVTAL SPTASDAVTQ MILVKAEGIE
KSYSQSILLD LTDNRLQSTL KTLSFSFPPN TVTGSERVQI TAIGDVLGPS INGLASLIRM
PYGCGEQNMI NFAPNIYILD YLTKKKQLTD NLKEKALSFM RQGYQRELLY QREDGSFSAF
GNYDPSGSTW LSAFVLRCFL EADPYIDIDQ NVLHRTYTWL KGHQKSNGEF WDPGRVIHSE
LQGGNKSPVT LTAYIVTSLL GYRKYQPNID VQESIHFLES EFSRGISDNY TLALITYALS
SVGSPKAKEA LNMLTWRAEQ EGGMQFWVSS ESKLSDSWQP RSLDIEVAAY ALLSHFLQFQ
TSEGIPIMRW LSRQRNSLGG FASTQDTTVA LKALSEFAAL MNTERTNIQV TVTGPSSPSP
VKFLIDTHNR LLLQTAELAV VQPTAVNISA NGFGFAICQL NVVYNVKASG SSRRRRSIQN
QEAFDLDVAV KENKDDLNHV DLNVCTSFSG PGRSGMALME VNLLSGFMVP SEAISLSETV
KKVEYDHGKL NLYLDSVNET QFCVNIPAVR NFKVSNTQDA SVSIVDYYEP RRQAVRSYNS
EVKLSSCDLC SDVQGCRPCE DGASGSHHHS SVIFIFCFKL LYFMELWL*

mutated AA sequence

MQGPPLLTAA HLLCVCTAAL AVAPGPRFLV TAPGIIRPGG NVTIGVELLE HCPSQVTVKA
ELLKTASNLT VSVLEAEGVF EKGSFKTLTL PSDPKSNLIQ QWLSQQSDLG VISKTFQLSS
HPILGDWSIQ VQVNDQTYYQ SFQVSEYVLP KFEVTLQTPL YCSMNSKHLN GTITAKYTYG
KPVKGDVTLT FLPLSFWGKK KNITKTFKIN GSANFSFNDE EMKNVMDSSN GLSEYLDLSS
PGPVEILTTV TESVTGISRN VSTNVFFKQH DYIIEFFDYT TVLKPSLNFT ATVKVTRADG
NQLTLEERRN NVVITVTQRN YTEYWSGSNS GNQKMEAVQK INYTVPQSGT FKIEFPILED
SSELQLKAYF LGSKSSMAVH SLFKSPSKTY IQLKTRDENI KVGSPFELVV SGNKRLKELS
YMVVSRGQLV AVGKQNSTMF SLTPENSWTP KACVIVYYIE DDGEIISDVL KIPVQLVFKN
KIKLYWSKVK AEPSEKVSLR ISVTQPDSIV GIVAVDKSVN LMNASNDITM ENVVHELELY
NTGYYLGMFM NSFAVFQECG LWVLTDANLT KDYIDGVYDN AEYAERFMEE NEGHIVDIHD
FSLGSSPHVR KHFPETWIWL DTNMGYRIYQ EFEVTVPDSI TSWVATGFVI SEDLGLGLTT
TPVELQAFQP FFIFLNLPYS VIRGEEFALE ITIFNYLKDA TEVKVIIEKS DKFDILMTSS
EINATGHQQT LLVPSEDGAT VLFPIRPTHL GEIPITVTAL SPTASDAVTQ MILVKAEGIE
KSYSQSILLD LTDNRLQSTL KTLSFSFPPN TVTGSERVQI TAIGDVLGPS INGLASLIRM
PYGCGEQNMI NFAPNIYILD YLTKKKQLTD NLKEKALSFM RQGYQRELLY QREDGSFSAF
GNYDPSGSTW LSAFVLRCFL EADPYIDIDQ NVLHRTYTWL KGHQKSNGEF WDPGRVIHSE
LQGGNKSPVT LTAYIVTSLL GYRKYQPNID VQESIHFLES EFSRGISDNY TLALITYALS
SVGSPKAKEA LNMLTWRAEQ EGGMQFWVSS ESKLSDSWQP RSLDIEVAAY ALLSHFLQFQ
TSEGIPIMRW LSRQRNSLGG FASTQDTTVA LKALSEFAAL MNTERTNIQV TVTGPSSPSP
VKFLIDTHNR LLLQTAELAV VQPTAVNISA NGFGFAICQL NVVYNVKASG SSRRRRSIQN
QEAFDLDVAV KENKDDLNHV DLNVCTSFSG PGRSGMALME VNLLSGFMVP SEAISLSETV
KKVEYDHGKL NLYLDSVNET QFCVNIPAVR NFKVSNTQDA SVSIVDYYEP RRQAVRSYNS
EVKLSSCDLC SDVQGCRPCE DGASGSHHHS SVIFIFCFKL LYFMELWL*

speed

0.31 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems