MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 4 transcript(s)...
Querying Taster for transcript #1: ENST00000377873
Querying Taster for transcript #2: ENST00000377868
Querying Taster for transcript #3: ENST00000536626
Querying Taster for transcript #4: ENST00000544874
MT speed 0 s - this script 4.906527 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
BFSP1	polymorphism_automatic	1.01129993268501e-10	simple_aae		affected		G345S	single base exchange	rs6080719		show file
BFSP1	polymorphism_automatic	1.01129993268501e-10	simple_aae		affected		G220S	single base exchange	rs6080719		show file
BFSP1	polymorphism_automatic	1.01129993268501e-10	simple_aae		affected		G206S	single base exchange	rs6080719		show file
BFSP1	polymorphism_automatic	1.01129993268501e-10	simple_aae		affected		G206S	single base exchange	rs6080719		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999989887 (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)

chr20:17477592C>TN/A show variant in all transcripts IGV

HGNC symbol

BFSP1

Ensembl transcript ID

ENST00000377873

Genbank transcript ID

NM_001195

UniProt peptide

Q12934

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1033G>A
cDNA.1073G>A
g.72274G>A

AA changes

G345S Score: 56 explain score(s)

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

345

frameshift

known variant

Reference ID: rs6080719

database	homozygous (T/T)	heterozygous	allele carriers
1000G	217	905	1122
ExAC	910	4160	5070

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.92	0.008
	-0.324	0
(flanking)	-0.467	0

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	72269	wt: 0.2206 / mu: 0.2213 (marginal change - not scored)	wt: TGGAGTCTCTCTCAGCACTGGATCCGGTGGGAAAGGTAACG mu: TGGAGTCTCTCTCAGCACTGGATCCAGTGGGAAAGGTAACG	ctgg\|ATCC
Donor increased	72277	wt: 0.86 / mu: 0.95	wt: CCGGTGGGAAAGGTA mu: CCAGTGGGAAAGGTA	GGTG\|ggaa
Donor increased	72276	wt: 0.25 / mu: 0.65	wt: TCCGGTGGGAAAGGT mu: TCCAGTGGGAAAGGT	CGGT\|ggga
Donor marginally increased	72278	wt: 0.9662 / mu: 0.9858 (marginal change - not scored)	wt: CGGTGGGAAAGGTAA mu: CAGTGGGAAAGGTAA	GTGG\|gaaa
Donor gained	72274	0.40	mu: GATCCAGTGGGAAAG	TCCA\|gtgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

345

mutated

not conserved

345

Ptroglodytes

all identical

ENSPTRG00000013274

345

Mmulatta

all identical

ENSMMUG00000014632

345

Fcatus

all identical

ENSFCAG00000011358

219

Mmusculus

not conserved

ENSMUSG00000027420

343

Ggallus

not conserved

ENSGALG00000008735

343

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074919

346

YTH

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
321	665	REGION	Tail.	lost
398	398	CONFLICT	K -> R (in Ref. 1; AAB94939).	might get lost (downstream of altered splice site)
568	568	CONFLICT	E -> G (in Ref. 1; AAB94939).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1998 / 1998

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

666 / 666

position of stopcodon in wt / mu cDNA

2038 / 2038

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

41 / 41

chromosome

strand

-1

last intron/exon boundary

1083

theoretical NMD boundary in CDS

992

length of CDS

1998

coding sequence (CDS) position

1033

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

1073

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

72274

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

17477592

original gDNA sequence snippet

TCTCTCTCAGCACTGGATCCGGTGGGAAAGGTAACGCTCCC

altered gDNA sequence snippet

TCTCTCTCAGCACTGGATCCAGTGGGAAAGGTAACGCTCCC

original cDNA sequence snippet

TCTCTCTCAGCACTGGATCCGGTGGGAAAGATCTTACCAGA

altered cDNA sequence snippet

TCTCTCTCAGCACTGGATCCAGTGGGAAAGATCTTACCAGA

wildtype AA sequence

MYRRSYVFQT RKEQYEHADE ASRAAEPERP ADEGWAGATS LAALQGLGER VAAHVQRARA
LEQRHAGLRR QLDAFQRLGE LAGPEDALAR QVESNRQRVR DLEAERARLE RQGTEAQRAL
DEFRSKYENE CECQLLLKEM LERLNKEADE ALLHNLRLQL EAQFLQDDIS AAKDRHKKNL
LEVQTYISIL QQIIHTTPPA SIVTSGMREE KLLTEREVAA LRSQLEEGRE VLSHLQAQRV
ELQAQTTTLE QAIKSAHECY DDEIQLYNEQ IETLRKEIEE TERVLEKSSY DCRQLAVAQQ
TLKNELDRYH RIIEIEGNRL TSAFIETPIP LFTQSHGVSL STGSGGKDLT RALQDITAAK
PRQKALPKNV PRRKEIITKD KTNGALEDAP LKGLEDTKLV QVVLKEESES KFESESKEVS
PLTQEGAPED VPDGGQISKG FGKLYRKVKE KVRSPKEPET PTELYTKERH VLVTGDANYV
DPRFYVSSIT AKGGVAVSVA EDSVLYDGQV EPSPESPKPP LENGQVGLQE KEDGQPIDQQ
PIDKEIEPDG AELEGPEEKR EGEERDEESR RPCAMVTPGA EEPSIPEPPK PAADQDGAEV
LGTRSRSLPE KGPPKALAYK TVEVVESIEK ISTESIQTYE ETAVIVETMI GKTKSDKKKS
GEKSS*

mutated AA sequence

MYRRSYVFQT RKEQYEHADE ASRAAEPERP ADEGWAGATS LAALQGLGER VAAHVQRARA
LEQRHAGLRR QLDAFQRLGE LAGPEDALAR QVESNRQRVR DLEAERARLE RQGTEAQRAL
DEFRSKYENE CECQLLLKEM LERLNKEADE ALLHNLRLQL EAQFLQDDIS AAKDRHKKNL
LEVQTYISIL QQIIHTTPPA SIVTSGMREE KLLTEREVAA LRSQLEEGRE VLSHLQAQRV
ELQAQTTTLE QAIKSAHECY DDEIQLYNEQ IETLRKEIEE TERVLEKSSY DCRQLAVAQQ
TLKNELDRYH RIIEIEGNRL TSAFIETPIP LFTQSHGVSL STGSSGKDLT RALQDITAAK
PRQKALPKNV PRRKEIITKD KTNGALEDAP LKGLEDTKLV QVVLKEESES KFESESKEVS
PLTQEGAPED VPDGGQISKG FGKLYRKVKE KVRSPKEPET PTELYTKERH VLVTGDANYV
DPRFYVSSIT AKGGVAVSVA EDSVLYDGQV EPSPESPKPP LENGQVGLQE KEDGQPIDQQ
PIDKEIEPDG AELEGPEEKR EGEERDEESR RPCAMVTPGA EEPSIPEPPK PAADQDGAEV
LGTRSRSLPE KGPPKALAYK TVEVVESIEK ISTESIQTYE ETAVIVETMI GKTKSDKKKS
GEKSS*

speed

0.77 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: 0.99999999989887 (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)

chr20:17477592C>TN/A show variant in all transcripts IGV

HGNC symbol

BFSP1

Ensembl transcript ID

ENST00000377868

Genbank transcript ID

NM_001161705

UniProt peptide

Q12934

alteration type

single base exchange

alteration region

CDS

DNA changes

c.658G>A
cDNA.929G>A
g.72274G>A

AA changes

G220S Score: 56 explain score(s)

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

220

frameshift

known variant

Reference ID: rs6080719

database	homozygous (T/T)	heterozygous	allele carriers
1000G	217	905	1122
ExAC	910	4160	5070

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.92	0.008
	-0.324	0
(flanking)	-0.467	0

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	72269	wt: 0.2206 / mu: 0.2213 (marginal change - not scored)	wt: TGGAGTCTCTCTCAGCACTGGATCCGGTGGGAAAGGTAACG mu: TGGAGTCTCTCTCAGCACTGGATCCAGTGGGAAAGGTAACG	ctgg\|ATCC
Donor increased	72277	wt: 0.86 / mu: 0.95	wt: CCGGTGGGAAAGGTA mu: CCAGTGGGAAAGGTA	GGTG\|ggaa
Donor increased	72276	wt: 0.25 / mu: 0.65	wt: TCCGGTGGGAAAGGT mu: TCCAGTGGGAAAGGT	CGGT\|ggga
Donor marginally increased	72278	wt: 0.9662 / mu: 0.9858 (marginal change - not scored)	wt: CGGTGGGAAAGGTAA mu: CAGTGGGAAAGGTAA	GTGG\|gaaa
Donor gained	72274	0.40	mu: GATCCAGTGGGAAAG	TCCA\|gtgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

220

mutated

not conserved

220

Ptroglodytes

all identical

ENSPTRG00000013274

345

Mmulatta

all identical

ENSMMUG00000014632

345

Fcatus

all identical

ENSFCAG00000011358

219

Mmusculus

not conserved

ENSMUSG00000027420

343

Ggallus

not conserved

ENSGALG00000008735

343

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074919

346

YTH

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
41	320	REGION	Rod.	lost
202	320	REGION	Coil 2.	lost
248	248	CONFLICT	T -> A (in Ref. 5; AAA74423).	might get lost (downstream of altered splice site)
321	665	REGION	Tail.	might get lost (downstream of altered splice site)
398	398	CONFLICT	K -> R (in Ref. 1; AAB94939).	might get lost (downstream of altered splice site)
568	568	CONFLICT	E -> G (in Ref. 1; AAB94939).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1623 / 1623

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

541 / 541

position of stopcodon in wt / mu cDNA

1894 / 1894

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

272 / 272

chromosome

strand

-1

last intron/exon boundary

939

theoretical NMD boundary in CDS

617

length of CDS

1623

coding sequence (CDS) position

658

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

929

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

72274

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

17477592

original gDNA sequence snippet

TCTCTCTCAGCACTGGATCCGGTGGGAAAGGTAACGCTCCC

altered gDNA sequence snippet

TCTCTCTCAGCACTGGATCCAGTGGGAAAGGTAACGCTCCC

original cDNA sequence snippet

TCTCTCTCAGCACTGGATCCGGTGGGAAAGATCTTACCAGA

altered cDNA sequence snippet

TCTCTCTCAGCACTGGATCCAGTGGGAAAGATCTTACCAGA

wildtype AA sequence

MYENECECQL LLKEMLERLN KEADEALLHN LRLQLEAQFL QDDISAAKDR HKKNLLEVQT
YISILQQIIH TTPPASIVTS GMREEKLLTE REVAALRSQL EEGREVLSHL QAQRVELQAQ
TTTLEQAIKS AHECYDDEIQ LYNEQIETLR KEIEETERVL EKSSYDCRQL AVAQQTLKNE
LDRYHRIIEI EGNRLTSAFI ETPIPLFTQS HGVSLSTGSG GKDLTRALQD ITAAKPRQKA
LPKNVPRRKE IITKDKTNGA LEDAPLKGLE DTKLVQVVLK EESESKFESE SKEVSPLTQE
GAPEDVPDGG QISKGFGKLY RKVKEKVRSP KEPETPTELY TKERHVLVTG DANYVDPRFY
VSSITAKGGV AVSVAEDSVL YDGQVEPSPE SPKPPLENGQ VGLQEKEDGQ PIDQQPIDKE
IEPDGAELEG PEEKREGEER DEESRRPCAM VTPGAEEPSI PEPPKPAADQ DGAEVLGTRS
RSLPEKGPPK ALAYKTVEVV ESIEKISTES IQTYEETAVI VETMIGKTKS DKKKSGEKSS
*

mutated AA sequence

MYENECECQL LLKEMLERLN KEADEALLHN LRLQLEAQFL QDDISAAKDR HKKNLLEVQT
YISILQQIIH TTPPASIVTS GMREEKLLTE REVAALRSQL EEGREVLSHL QAQRVELQAQ
TTTLEQAIKS AHECYDDEIQ LYNEQIETLR KEIEETERVL EKSSYDCRQL AVAQQTLKNE
LDRYHRIIEI EGNRLTSAFI ETPIPLFTQS HGVSLSTGSS GKDLTRALQD ITAAKPRQKA
LPKNVPRRKE IITKDKTNGA LEDAPLKGLE DTKLVQVVLK EESESKFESE SKEVSPLTQE
GAPEDVPDGG QISKGFGKLY RKVKEKVRSP KEPETPTELY TKERHVLVTG DANYVDPRFY
VSSITAKGGV AVSVAEDSVL YDGQVEPSPE SPKPPLENGQ VGLQEKEDGQ PIDQQPIDKE
IEPDGAELEG PEEKREGEER DEESRRPCAM VTPGAEEPSI PEPPKPAADQ DGAEVLGTRS
RSLPEKGPPK ALAYKTVEVV ESIEKISTES IQTYEETAVI VETMIGKTKS DKKKSGEKSS
*

speed

0.79 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999989887 (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)

chr20:17477592C>TN/A show variant in all transcripts IGV

HGNC symbol

BFSP1

Ensembl transcript ID

ENST00000536626

Genbank transcript ID

N/A

UniProt peptide

Q12934

alteration type

single base exchange

alteration region

CDS

DNA changes

c.616G>A
cDNA.1050G>A
g.72274G>A

AA changes

G206S Score: 56 explain score(s)

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

206

frameshift

known variant

Reference ID: rs6080719

database	homozygous (T/T)	heterozygous	allele carriers
1000G	217	905	1122
ExAC	910	4160	5070

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.92	0.008
	-0.324	0
(flanking)	-0.467	0

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	72269	wt: 0.2206 / mu: 0.2213 (marginal change - not scored)	wt: TGGAGTCTCTCTCAGCACTGGATCCGGTGGGAAAGGTAACG mu: TGGAGTCTCTCTCAGCACTGGATCCAGTGGGAAAGGTAACG	ctgg\|ATCC
Donor increased	72277	wt: 0.86 / mu: 0.95	wt: CCGGTGGGAAAGGTA mu: CCAGTGGGAAAGGTA	GGTG\|ggaa
Donor increased	72276	wt: 0.25 / mu: 0.65	wt: TCCGGTGGGAAAGGT mu: TCCAGTGGGAAAGGT	CGGT\|ggga
Donor marginally increased	72278	wt: 0.9662 / mu: 0.9858 (marginal change - not scored)	wt: CGGTGGGAAAGGTAA mu: CAGTGGGAAAGGTAA	GTGG\|gaaa
Donor gained	72274	0.40	mu: GATCCAGTGGGAAAG	TCCA\|gtgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

206

mutated

not conserved

206

Ptroglodytes

all identical

ENSPTRG00000013274

345

Mmulatta

all identical

ENSMMUG00000014632

345

Fcatus

all identical

ENSFCAG00000011358

219

Mmusculus

not conserved

ENSMUSG00000027420

343

Ggallus

not conserved

ENSGALG00000008735

343

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074919

346

YTH

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
41	320	REGION	Rod.	lost
202	320	REGION	Coil 2.	lost
248	248	CONFLICT	T -> A (in Ref. 5; AAA74423).	might get lost (downstream of altered splice site)
321	665	REGION	Tail.	might get lost (downstream of altered splice site)
398	398	CONFLICT	K -> R (in Ref. 1; AAB94939).	might get lost (downstream of altered splice site)
568	568	CONFLICT	E -> G (in Ref. 1; AAB94939).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1581 / 1581

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

527 / 527

position of stopcodon in wt / mu cDNA

2015 / 2015

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

435 / 435

chromosome

strand

-1

last intron/exon boundary

1060

theoretical NMD boundary in CDS

575

length of CDS

1581

coding sequence (CDS) position

616

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

1050

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

72274

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

17477592

original gDNA sequence snippet

TCTCTCTCAGCACTGGATCCGGTGGGAAAGGTAACGCTCCC

altered gDNA sequence snippet

TCTCTCTCAGCACTGGATCCAGTGGGAAAGGTAACGCTCCC

original cDNA sequence snippet

TCTCTCTCAGCACTGGATCCGGTGGGAAAGATCTTACCAGA

altered cDNA sequence snippet

TCTCTCTCAGCACTGGATCCAGTGGGAAAGATCTTACCAGA

wildtype AA sequence

MLERLNKEAD EALLHNLRLQ LEAQFLQDDI SAAKDRHKKN LLEVQTYISI LQQIIHTTPP
ASIVTSGMRE EKLLTEREVA ALRSQLEEGR EVLSHLQAQR VELQAQTTTL EQAIKSAHEC
YDDEIQLYNE QIETLRKEIE ETERVLEKSS YDCRQLAVAQ QTLKNELDRY HRIIEIEGNR
LTSAFIETPI PLFTQSHGVS LSTGSGGKDL TRALQDITAA KPRQKALPKN VPRRKEIITK
DKTNGALEDA PLKGLEDTKL VQVVLKEESE SKFESESKEV SPLTQEGAPE DVPDGGQISK
GFGKLYRKVK EKVRSPKEPE TPTELYTKER HVLVTGDANY VDPRFYVSSI TAKGGVAVSV
AEDSVLYDGQ VEPSPESPKP PLENGQVGLQ EKEDGQPIDQ QPIDKEIEPD GAELEGPEEK
REGEERDEES RRPCAMVTPG AEEPSIPEPP KPAADQDGAE VLGTRSRSLP EKGPPKALAY
KTVEVVESIE KISTESIQTY EETAVIVETM IGKTKSDKKK SGEKSS*

mutated AA sequence

MLERLNKEAD EALLHNLRLQ LEAQFLQDDI SAAKDRHKKN LLEVQTYISI LQQIIHTTPP
ASIVTSGMRE EKLLTEREVA ALRSQLEEGR EVLSHLQAQR VELQAQTTTL EQAIKSAHEC
YDDEIQLYNE QIETLRKEIE ETERVLEKSS YDCRQLAVAQ QTLKNELDRY HRIIEIEGNR
LTSAFIETPI PLFTQSHGVS LSTGSSGKDL TRALQDITAA KPRQKALPKN VPRRKEIITK
DKTNGALEDA PLKGLEDTKL VQVVLKEESE SKFESESKEV SPLTQEGAPE DVPDGGQISK
GFGKLYRKVK EKVRSPKEPE TPTELYTKER HVLVTGDANY VDPRFYVSSI TAKGGVAVSV
AEDSVLYDGQ VEPSPESPKP PLENGQVGLQ EKEDGQPIDQ QPIDKEIEPD GAELEGPEEK
REGEERDEES RRPCAMVTPG AEEPSIPEPP KPAADQDGAE VLGTRSRSLP EKGPPKALAY
KTVEVVESIE KISTESIQTY EETAVIVETM IGKTKSDKKK SGEKSS*

speed

0.92 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999989887 (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)

chr20:17477592C>TN/A show variant in all transcripts IGV

HGNC symbol

BFSP1

Ensembl transcript ID

ENST00000544874

Genbank transcript ID

N/A

UniProt peptide

Q12934

alteration type

single base exchange

alteration region

CDS

DNA changes

c.616G>A
cDNA.942G>A
g.72274G>A

AA changes

G206S Score: 56 explain score(s)

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

206

frameshift

known variant

Reference ID: rs6080719

database	homozygous (T/T)	heterozygous	allele carriers
1000G	217	905	1122
ExAC	910	4160	5070

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.92	0.008
	-0.324	0
(flanking)	-0.467	0

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	72269	wt: 0.2206 / mu: 0.2213 (marginal change - not scored)	wt: TGGAGTCTCTCTCAGCACTGGATCCGGTGGGAAAGGTAACG mu: TGGAGTCTCTCTCAGCACTGGATCCAGTGGGAAAGGTAACG	ctgg\|ATCC
Donor increased	72277	wt: 0.86 / mu: 0.95	wt: CCGGTGGGAAAGGTA mu: CCAGTGGGAAAGGTA	GGTG\|ggaa
Donor increased	72276	wt: 0.25 / mu: 0.65	wt: TCCGGTGGGAAAGGT mu: TCCAGTGGGAAAGGT	CGGT\|ggga
Donor marginally increased	72278	wt: 0.9662 / mu: 0.9858 (marginal change - not scored)	wt: CGGTGGGAAAGGTAA mu: CAGTGGGAAAGGTAA	GTGG\|gaaa
Donor gained	72274	0.40	mu: GATCCAGTGGGAAAG	TCCA\|gtgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

206

mutated

not conserved

206

Ptroglodytes

all identical

ENSPTRG00000013274

345

Mmulatta

all identical

ENSMMUG00000014632

345

Fcatus

all identical

ENSFCAG00000011358

219

Mmusculus

not conserved

ENSMUSG00000027420

343

Ggallus

not conserved

ENSGALG00000008735

343

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000074919

346

YTH

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
41	320	REGION	Rod.	lost
202	320	REGION	Coil 2.	lost
248	248	CONFLICT	T -> A (in Ref. 5; AAA74423).	might get lost (downstream of altered splice site)
321	665	REGION	Tail.	might get lost (downstream of altered splice site)
398	398	CONFLICT	K -> R (in Ref. 1; AAB94939).	might get lost (downstream of altered splice site)
568	568	CONFLICT	E -> G (in Ref. 1; AAB94939).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1581 / 1581

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

527 / 527

position of stopcodon in wt / mu cDNA

1907 / 1907

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

327 / 327

chromosome

strand

-1

last intron/exon boundary

952

theoretical NMD boundary in CDS

575

length of CDS

1581

coding sequence (CDS) position

616

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

942

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

72274

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

17477592

original gDNA sequence snippet

TCTCTCTCAGCACTGGATCCGGTGGGAAAGGTAACGCTCCC

altered gDNA sequence snippet

TCTCTCTCAGCACTGGATCCAGTGGGAAAGGTAACGCTCCC

original cDNA sequence snippet

TCTCTCTCAGCACTGGATCCGGTGGGAAAGATCTTACCAGA

altered cDNA sequence snippet

TCTCTCTCAGCACTGGATCCAGTGGGAAAGATCTTACCAGA

wildtype AA sequence

mutated AA sequence

MLERLNKEAD EALLHNLRLQ LEAQFLQDDI SAAKDRHKKN LLEVQTYISI LQQIIHTTPP
ASIVTSGMRE EKLLTEREVA ALRSQLEEGR EVLSHLQAQR VELQAQTTTL EQAIKSAHEC
YDDEIQLYNE QIETLRKEIE ETERVLEKSS YDCRQLAVAQ QTLKNELDRY HRIIEIEGNR
LTSAFIETPI PLFTQSHGVS LSTGSSGKDL TRALQDITAA KPRQKALPKN VPRRKEIITK
DKTNGALEDA PLKGLEDTKL VQVVLKEESE SKFESESKEV SPLTQEGAPE DVPDGGQISK
GFGKLYRKVK EKVRSPKEPE TPTELYTKER HVLVTGDANY VDPRFYVSSI TAKGGVAVSV
AEDSVLYDGQ VEPSPESPKP PLENGQVGLQ EKEDGQPIDQ QPIDKEIEPD GAELEGPEEK
REGEERDEES RRPCAMVTPG AEEPSIPEPP KPAADQDGAE VLGTRSRSLP EKGPPKALAY
KTVEVVESIE KISTESIQTY EETAVIVETM IGKTKSDKKK SGEKSS*

speed

1.13 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

Problems