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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000425327
Querying Taster for transcript #2: ENST00000393775
Querying Taster for transcript #3: ENST00000489689
Querying Taster for transcript #4: ENST00000441144
Querying Taster for transcript #5: ENST00000491903
Querying Taster for transcript #6: ENST00000354673
MT speed 0 s - this script 4.752423 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
IGSF11	polymorphism_automatic	0.130191353796327	simple_aae				E332D	single base exchange	rs36052974		show file
IGSF11	polymorphism_automatic	0.130191353796327	simple_aae				E333D	single base exchange	rs36052974		show file
IGSF11	polymorphism_automatic	0.130191353796327	simple_aae				E305D	single base exchange	rs36052974		show file
IGSF11	polymorphism_automatic	0.130191353796328	simple_aae				E308D	single base exchange	rs36052974		show file
IGSF11	polymorphism_automatic	0.130191353796328	simple_aae				E309D	single base exchange	rs36052974		show file
IGSF11	polymorphism_automatic	0.130191353796328	simple_aae				E332D	single base exchange	rs36052974		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.869808646203673 (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)

chr3:118621664C>AN/A show variant in all transcripts IGV

HGNC symbol

IGSF11

Ensembl transcript ID

ENST00000425327

Genbank transcript ID

N/A

UniProt peptide

Q5DX21

alteration type

single base exchange

alteration region

CDS

DNA changes

c.996G>T
cDNA.1265G>T
g.243252G>T

AA changes

E332D Score: 45 explain score(s)

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

332

frameshift

known variant

Reference ID: rs36052974

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	2982	18283	21265

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.757	1
	1.981	1
(flanking)	1.459	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 marginally increased	243255	wt: 0.8415 / mu: 0.9028 (marginal change - not scored)	wt: GAGTCAGTCAGCCAC mu: GATTCAGTCAGCCAC	GTCA\|gtca

distance from splice site

145

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

332

mutated

all conserved

332

Ptroglodytes

all identical

ENSPTRG00000015248

333

Mmulatta

all identical

ENSMMUG00000008075

333

Fcatus

all identical

ENSFCAG00000011001

316

Mmusculus

all identical

ENSMUSG00000022790

333

Ggallus

all conserved

ENSGALG00000015084

335

SNSN

Trubripes

not conserved

ENSTRUG00000010310

333

Drerio

not conserved

ENSDARG00000017217

336

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000023033

262

protein features

start (aa)	end (aa)	feature	details
263	431	TOPO_DOM	Cytoplasmic (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1293 / 1293

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

431 / 431

position of stopcodon in wt / mu cDNA

1562 / 1562

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

270 / 270

chromosome

strand

-1

last intron/exon boundary

1121

theoretical NMD boundary in CDS

801

length of CDS

1293

coding sequence (CDS) position

996

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

1265

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

243252

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

118621664

original gDNA sequence snippet

AAAGTTCATAGAAACACAGAGTCAGTCAGCCACTTCAGTGA

altered gDNA sequence snippet

AAAGTTCATAGAAACACAGATTCAGTCAGCCACTTCAGTGA

original cDNA sequence snippet

AAAGTTCATAGAAACACAGAGTCAGTCAGCCACTTCAGTGA

altered cDNA sequence snippet

AAAGTTCATAGAAACACAGATTCAGTCAGCCACTTCAGTGA

wildtype AA sequence

MSLVELLLWW NCFSRTGVAA SLEVSESPGS IQVARGQPAV LPCTFTTSAA LINLNVIWMV
TPLSNANQPE QVILYQGGQM FDGAPRFHGR VGFTGTMPAT NVSIFINNTQ LSDTGTYQCL
VNNLPDIGGR NIGVTGLTVL VPPSAPHCQI QGSQDIGSDV ILLCSSEEGI PRPTYLWEKL
DNTLKLPPTA TQDQVQGTVT IRNISALSSG LYQCVASNAI GTSTCLLDLQ VISPQPRNIG
LIAGAIGTGA VIIIFCIALI LGAFFYWRSK NKEEEEEEIP NEIREDDLPP KCSSAKAFHT
EISSSDNNTL TSSNAYNSRY WSNNPKVHRN TESVSHFSDL GQSFSFHSGN ANIPSIYANG
THLVPGQHKT LVVTANRGSS PQVMSRSNGS VSRKPRPPHT HSYTISHATL ERIGAVPVMV
PAQSRAGSLV *

mutated AA sequence

MSLVELLLWW NCFSRTGVAA SLEVSESPGS IQVARGQPAV LPCTFTTSAA LINLNVIWMV
TPLSNANQPE QVILYQGGQM FDGAPRFHGR VGFTGTMPAT NVSIFINNTQ LSDTGTYQCL
VNNLPDIGGR NIGVTGLTVL VPPSAPHCQI QGSQDIGSDV ILLCSSEEGI PRPTYLWEKL
DNTLKLPPTA TQDQVQGTVT IRNISALSSG LYQCVASNAI GTSTCLLDLQ VISPQPRNIG
LIAGAIGTGA VIIIFCIALI LGAFFYWRSK NKEEEEEEIP NEIREDDLPP KCSSAKAFHT
EISSSDNNTL TSSNAYNSRY WSNNPKVHRN TDSVSHFSDL GQSFSFHSGN ANIPSIYANG
THLVPGQHKT LVVTANRGSS PQVMSRSNGS VSRKPRPPHT HSYTISHATL ERIGAVPVMV
PAQSRAGSLV *

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

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.869808646203673 (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)

chr3:118621664C>AN/A show variant in all transcripts IGV

HGNC symbol

IGSF11

Ensembl transcript ID

ENST00000393775

Genbank transcript ID

NM_001015887

UniProt peptide

Q5DX21

alteration type

single base exchange

alteration region

CDS

DNA changes

c.999G>T
cDNA.1305G>T
g.243252G>T

AA changes

E333D Score: 45 explain score(s)

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

333

frameshift

known variant

Reference ID: rs36052974

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	2982	18283	21265

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.757	1
	1.981	1
(flanking)	1.459	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 marginally increased	243255	wt: 0.8415 / mu: 0.9028 (marginal change - not scored)	wt: GAGTCAGTCAGCCAC mu: GATTCAGTCAGCCAC	GTCA\|gtca

distance from splice site

145

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

333

mutated

all conserved

333

Ptroglodytes

all identical

ENSPTRG00000015248

333

Mmulatta

all identical

ENSMMUG00000008075

333

Fcatus

all identical

ENSFCAG00000011001

316

Mmusculus

all identical

ENSMUSG00000022790

333

Ggallus

all conserved

ENSGALG00000015084

335

SNSN

Trubripes

not conserved

ENSTRUG00000010310

333

Drerio

not conserved

ENSDARG00000017217

336

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000023033

262

protein features

start (aa)	end (aa)	feature	details
263	431	TOPO_DOM	Cytoplasmic (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1296 / 1296

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

432 / 432

position of stopcodon in wt / mu cDNA

1602 / 1602

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

307 / 307

chromosome

strand

-1

last intron/exon boundary

1161

theoretical NMD boundary in CDS

804

length of CDS

1296

coding sequence (CDS) position

999

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

1305

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

243252

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

118621664

original gDNA sequence snippet

AAAGTTCATAGAAACACAGAGTCAGTCAGCCACTTCAGTGA

altered gDNA sequence snippet

AAAGTTCATAGAAACACAGATTCAGTCAGCCACTTCAGTGA

original cDNA sequence snippet

AAAGTTCATAGAAACACAGAGTCAGTCAGCCACTTCAGTGA

altered cDNA sequence snippet

AAAGTTCATAGAAACACAGATTCAGTCAGCCACTTCAGTGA

wildtype AA sequence

MTSQRSPLAP LLLLSLHGVA ASLEVSESPG SIQVARGQPA VLPCTFTTSA ALINLNVIWM
VTPLSNANQP EQVILYQGGQ MFDGAPRFHG RVGFTGTMPA TNVSIFINNT QLSDTGTYQC
LVNNLPDIGG RNIGVTGLTV LVPPSAPHCQ IQGSQDIGSD VILLCSSEEG IPRPTYLWEK
LDNTLKLPPT ATQDQVQGTV TIRNISALSS GLYQCVASNA IGTSTCLLDL QVISPQPRNI
GLIAGAIGTG AVIIIFCIAL ILGAFFYWRS KNKEEEEEEI PNEIREDDLP PKCSSAKAFH
TEISSSDNNT LTSSNAYNSR YWSNNPKVHR NTESVSHFSD LGQSFSFHSG NANIPSIYAN
GTHLVPGQHK TLVVTANRGS SPQVMSRSNG SVSRKPRPPH THSYTISHAT LERIGAVPVM
VPAQSRAGSL V*

mutated AA sequence

MTSQRSPLAP LLLLSLHGVA ASLEVSESPG SIQVARGQPA VLPCTFTTSA ALINLNVIWM
VTPLSNANQP EQVILYQGGQ MFDGAPRFHG RVGFTGTMPA TNVSIFINNT QLSDTGTYQC
LVNNLPDIGG RNIGVTGLTV LVPPSAPHCQ IQGSQDIGSD VILLCSSEEG IPRPTYLWEK
LDNTLKLPPT ATQDQVQGTV TIRNISALSS GLYQCVASNA IGTSTCLLDL QVISPQPRNI
GLIAGAIGTG AVIIIFCIAL ILGAFFYWRS KNKEEEEEEI PNEIREDDLP PKCSSAKAFH
TEISSSDNNT LTSSNAYNSR YWSNNPKVHR NTDSVSHFSD LGQSFSFHSG NANIPSIYAN
GTHLVPGQHK TLVVTANRGS SPQVMSRSNG SVSRKPRPPH THSYTISHAT LERIGAVPVM
VPAQSRAGSL V*

speed

0.96 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.869808646203673 (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)

chr3:118621664C>AN/A show variant in all transcripts IGV

HGNC symbol

IGSF11

Ensembl transcript ID

ENST00000491903

Genbank transcript ID

N/A

UniProt peptide

Q5DX21

alteration type

single base exchange

alteration region

CDS

DNA changes

c.915G>T
cDNA.1061G>T
g.243252G>T

AA changes

E305D Score: 45 explain score(s)

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

305

frameshift

known variant

Reference ID: rs36052974

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	2982	18283	21265

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.757	1
	1.981	1
(flanking)	1.459	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 marginally increased	243255	wt: 0.8415 / mu: 0.9028 (marginal change - not scored)	wt: GAGTCAGTCAGCCAC mu: GATTCAGTCAGCCAC	GTCA\|gtca

distance from splice site

145

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

305

mutated

all conserved

305

Ptroglodytes

all identical

ENSPTRG00000015248

333

Mmulatta

all identical

ENSMMUG00000008075

333

Fcatus

all identical

ENSFCAG00000011001

316

Mmusculus

all identical

ENSMUSG00000022790

333

Ggallus

all conserved

ENSGALG00000015084

335

SNSN

Trubripes

not conserved

ENSTRUG00000010310

333

Drerio

not conserved

ENSDARG00000017217

336

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000023033

262

GCR

protein features

start (aa)	end (aa)	feature	details
263	431	TOPO_DOM	Cytoplasmic (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1212 / 1212

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

404 / 404

position of stopcodon in wt / mu cDNA

1358 / 1358

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

147 / 147

chromosome

strand

-1

last intron/exon boundary

917

theoretical NMD boundary in CDS

720

length of CDS

1212

coding sequence (CDS) position

915

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

1061

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

243252

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

118621664

original gDNA sequence snippet

AAAGTTCATAGAAACACAGAGTCAGTCAGCCACTTCAGTGA

altered gDNA sequence snippet

AAAGTTCATAGAAACACAGATTCAGTCAGCCACTTCAGTGA

original cDNA sequence snippet

AAAGTTCATAGAAACACAGAGTCAGTCAGCCACTTCAGTGA

altered cDNA sequence snippet

AAAGTTCATAGAAACACAGATTCAGTCAGCCACTTCAGTGA

wildtype AA sequence

MTSQRSPLAP LLLLSLHGVA ASLEVSESPG SIQVARGQPA VLPCTFTTSA ALINLNVIWM
VTPLSNANQP EQVILYQGGQ MFDGAPRFHG RVGFTGTMPA TNVSIFINNT QLSDTGTYQC
LVNNLPDIGG RNIGVTGLTV LVPPSAPHCQ IQGSQDIGSD VILLCSSEEG IPRPTYLWEK
LDNTLKLPPT ATQDQVQGTV TIRNISALSS GLYQCVASNA IGTSTCLLDL QVISRAFFYW
RSKNKEEEEE EIPNEIREDD LPPKCSSAKA FHTEISSSDN NTLTSSNAYN SRYWSNNPKV
HRNTESVSHF SDLGQSFSFH SGNANIPSIY ANGTHLVPGQ HKTLVVTANR GSSPQVMSRS
NGSVSRKPRP PHTHSYTISH ATLERIGAVP VMVPAQSRAG SLV*

mutated AA sequence

MTSQRSPLAP LLLLSLHGVA ASLEVSESPG SIQVARGQPA VLPCTFTTSA ALINLNVIWM
VTPLSNANQP EQVILYQGGQ MFDGAPRFHG RVGFTGTMPA TNVSIFINNT QLSDTGTYQC
LVNNLPDIGG RNIGVTGLTV LVPPSAPHCQ IQGSQDIGSD VILLCSSEEG IPRPTYLWEK
LDNTLKLPPT ATQDQVQGTV TIRNISALSS GLYQCVASNA IGTSTCLLDL QVISRAFFYW
RSKNKEEEEE EIPNEIREDD LPPKCSSAKA FHTEISSSDN NTLTSSNAYN SRYWSNNPKV
HRNTDSVSHF SDLGQSFSFH SGNANIPSIY ANGTHLVPGQ HKTLVVTANR GSSPQVMSRS
NGSVSRKPRP PHTHSYTISH ATLERIGAVP VMVPAQSRAG SLV*

speed

1.00 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.869808646203672 (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)

chr3:118621664C>AN/A show variant in all transcripts IGV

HGNC symbol

IGSF11

Ensembl transcript ID

ENST00000441144

Genbank transcript ID

N/A

UniProt peptide

Q5DX21

alteration type

single base exchange

alteration region

CDS

DNA changes

c.924G>T
cDNA.1289G>T
g.243252G>T

AA changes

E308D Score: 45 explain score(s)

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

308

frameshift

known variant

Reference ID: rs36052974

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	2982	18283	21265

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.757	1
	1.981	1
(flanking)	1.459	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 marginally increased	243255	wt: 0.8415 / mu: 0.9028 (marginal change - not scored)	wt: GAGTCAGTCAGCCAC mu: GATTCAGTCAGCCAC	GTCA\|gtca

distance from splice site

145

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

308

mutated

all conserved

308

Ptroglodytes

all identical

ENSPTRG00000015248

333

Mmulatta

all identical

ENSMMUG00000008075

333

Fcatus

all identical

ENSFCAG00000011001

316

Mmusculus

all identical

ENSMUSG00000022790

333

Ggallus

all conserved

ENSGALG00000015084

335

SNSN

Trubripes

not conserved

ENSTRUG00000010310

333

Drerio

not conserved

ENSDARG00000017217

336

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000023033

262

protein features

start (aa)	end (aa)	feature	details
263	431	TOPO_DOM	Cytoplasmic (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1221 / 1221

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

407 / 407

position of stopcodon in wt / mu cDNA

1586 / 1586

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

366 / 366

chromosome

strand

-1

last intron/exon boundary

1145

theoretical NMD boundary in CDS

729

length of CDS

1221

coding sequence (CDS) position

924

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

1289

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

243252

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

118621664

original gDNA sequence snippet

AAAGTTCATAGAAACACAGAGTCAGTCAGCCACTTCAGTGA

altered gDNA sequence snippet

AAAGTTCATAGAAACACAGATTCAGTCAGCCACTTCAGTGA

original cDNA sequence snippet

AAAGTTCATAGAAACACAGAGTCAGTCAGCCACTTCAGTGA

altered cDNA sequence snippet

AAAGTTCATAGAAACACAGATTCAGTCAGCCACTTCAGTGA

wildtype AA sequence

MSLVELLLWW NCFSRTGVAA SLEVSESPGS IQVARGQPAV LPCTFTTSAA LINLNVIWMV
TPLSNANQPE QVILYQGGQM FDGAPRFHGR VGFTGTMPAT NVSIFINNTQ LSDTGTYQCL
VNNLPDIGGR NIGVTGLTVL VPPSAPHCQI QGSQDIGSDV ILLCSSEEGI PRPTYLWEKL
DNTLKLPPTA TQDQVQGTVT IRNISALSSA QPRNIGLIAG AIGTGAVIII FCIALILGAF
FYWRSKNKEE EEEEIPNEIR EDDLPPKCSS AKAFHTEISS SDNNTLTSSN AYNSRYWSNN
PKVHRNTESV SHFSDLGQSF SFHSGNANIP SIYANGTHLV PGQHKTLVVT ANRGSSPQVM
SRSNGSVSRK PRPPHTHSYT ISHATLERIG AVPVMVPAQS RAGSLV*

mutated AA sequence

MSLVELLLWW NCFSRTGVAA SLEVSESPGS IQVARGQPAV LPCTFTTSAA LINLNVIWMV
TPLSNANQPE QVILYQGGQM FDGAPRFHGR VGFTGTMPAT NVSIFINNTQ LSDTGTYQCL
VNNLPDIGGR NIGVTGLTVL VPPSAPHCQI QGSQDIGSDV ILLCSSEEGI PRPTYLWEKL
DNTLKLPPTA TQDQVQGTVT IRNISALSSA QPRNIGLIAG AIGTGAVIII FCIALILGAF
FYWRSKNKEE EEEEIPNEIR EDDLPPKCSS AKAFHTEISS SDNNTLTSSN AYNSRYWSNN
PKVHRNTDSV SHFSDLGQSF SFHSGNANIP SIYANGTHLV PGQHKTLVVT ANRGSSPQVM
SRSNGSVSRK PRPPHTHSYT ISHATLERIG AVPVMVPAQS RAGSLV*

speed

1.00 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.869808646203672 (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)

chr3:118621664C>AN/A show variant in all transcripts IGV

HGNC symbol

IGSF11

Ensembl transcript ID

ENST00000489689

Genbank transcript ID

N/A

UniProt peptide

Q5DX21

alteration type

single base exchange

alteration region

CDS

DNA changes

c.927G>T
cDNA.1137G>T
g.243252G>T

AA changes

E309D Score: 45 explain score(s)

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

309

frameshift

known variant

Reference ID: rs36052974

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	2982	18283	21265

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.757	1
	1.981	1
(flanking)	1.459	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 marginally increased	243255	wt: 0.8415 / mu: 0.9028 (marginal change - not scored)	wt: GAGTCAGTCAGCCAC mu: GATTCAGTCAGCCAC	GTCA\|gtca

distance from splice site

145

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

309

mutated

all conserved

309

Ptroglodytes

all identical

ENSPTRG00000015248

333

Mmulatta

all identical

ENSMMUG00000008075

333

Fcatus

all identical

ENSFCAG00000011001

316

Mmusculus

all identical

ENSMUSG00000022790

333

Ggallus

all conserved

ENSGALG00000015084

335

SNSN

Trubripes

not conserved

ENSTRUG00000010310

333

Drerio

not conserved

ENSDARG00000017217

336

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000023033

262

protein features

start (aa)	end (aa)	feature	details
263	431	TOPO_DOM	Cytoplasmic (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1224 / 1224

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

408 / 408

position of stopcodon in wt / mu cDNA

1434 / 1434

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

211 / 211

chromosome

strand

-1

last intron/exon boundary

993

theoretical NMD boundary in CDS

732

length of CDS

1224

coding sequence (CDS) position

927

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

1137

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

243252

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

118621664

original gDNA sequence snippet

AAAGTTCATAGAAACACAGAGTCAGTCAGCCACTTCAGTGA

altered gDNA sequence snippet

AAAGTTCATAGAAACACAGATTCAGTCAGCCACTTCAGTGA

original cDNA sequence snippet

AAAGTTCATAGAAACACAGAGTCAGTCAGCCACTTCAGTGA

altered cDNA sequence snippet

AAAGTTCATAGAAACACAGATTCAGTCAGCCACTTCAGTGA

wildtype AA sequence

MTSQRSPLAP LLLLSLHGVA ASLEVSESPG SIQVARGQPA VLPCTFTTSA ALINLNVIWM
VTPLSNANQP EQVILYQGGQ MFDGAPRFHG RVGFTGTMPA TNVSIFINNT QLSDTGTYQC
LVNNLPDIGG RNIGVTGLTV LVPPSAPHCQ IQGSQDIGSD VILLCSSEEG IPRPTYLWEK
LDNTLKLPPT ATQDQVQGTV TIRNISALSS AQPRNIGLIA GAIGTGAVII IFCIALILGA
FFYWRSKNKE EEEEEIPNEI REDDLPPKCS SAKAFHTEIS SSDNNTLTSS NAYNSRYWSN
NPKVHRNTES VSHFSDLGQS FSFHSGNANI PSIYANGTHL VPGQHKTLVV TANRGSSPQV
MSRSNGSVSR KPRPPHTHSY TISHATLERI GAVPVMVPAQ SRAGSLV*

mutated AA sequence

MTSQRSPLAP LLLLSLHGVA ASLEVSESPG SIQVARGQPA VLPCTFTTSA ALINLNVIWM
VTPLSNANQP EQVILYQGGQ MFDGAPRFHG RVGFTGTMPA TNVSIFINNT QLSDTGTYQC
LVNNLPDIGG RNIGVTGLTV LVPPSAPHCQ IQGSQDIGSD VILLCSSEEG IPRPTYLWEK
LDNTLKLPPT ATQDQVQGTV TIRNISALSS AQPRNIGLIA GAIGTGAVII IFCIALILGA
FFYWRSKNKE EEEEEIPNEI REDDLPPKCS SAKAFHTEIS SSDNNTLTSS NAYNSRYWSN
NPKVHRNTDS VSHFSDLGQS FSFHSGNANI PSIYANGTHL VPGQHKTLVV TANRGSSPQV
MSRSNGSVSR KPRPPHTHSY TISHATLERI GAVPVMVPAQ SRAGSLV*

speed

0.71 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.869808646203672 (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)

chr3:118621664C>AN/A show variant in all transcripts IGV

HGNC symbol

IGSF11

Ensembl transcript ID

ENST00000354673

Genbank transcript ID

NM_152538

UniProt peptide

Q5DX21

alteration type

single base exchange

alteration region

CDS

DNA changes

c.996G>T
cDNA.1377G>T
g.243252G>T

AA changes

E332D Score: 45 explain score(s)

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

332

frameshift

known variant

Reference ID: rs36052974

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	2982	18283	21265

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.757	1
	1.981	1
(flanking)	1.459	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 marginally increased	243255	wt: 0.8415 / mu: 0.9028 (marginal change - not scored)	wt: GAGTCAGTCAGCCAC mu: GATTCAGTCAGCCAC	GTCA\|gtca

distance from splice site

145

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

332

mutated

all conserved

332

Ptroglodytes

all identical

ENSPTRG00000015248

333

Mmulatta

all identical

ENSMMUG00000008075

333

Fcatus

all identical

ENSFCAG00000011001

316

Mmusculus

all identical

ENSMUSG00000022790

333

Ggallus

all conserved

ENSGALG00000015084

335

SNSN

Trubripes

not conserved

ENSTRUG00000010310

333

Drerio

not conserved

ENSDARG00000017217

336

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000023033

262

protein features

start (aa)	end (aa)	feature	details
263	431	TOPO_DOM	Cytoplasmic (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1293 / 1293

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

431 / 431

position of stopcodon in wt / mu cDNA

1674 / 1674

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

382 / 382

chromosome

strand

-1

last intron/exon boundary

1233

theoretical NMD boundary in CDS

801

length of CDS

1293

coding sequence (CDS) position

996

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

1377

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

243252

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

118621664

original gDNA sequence snippet

AAAGTTCATAGAAACACAGAGTCAGTCAGCCACTTCAGTGA

altered gDNA sequence snippet

AAAGTTCATAGAAACACAGATTCAGTCAGCCACTTCAGTGA

original cDNA sequence snippet

AAAGTTCATAGAAACACAGAGTCAGTCAGCCACTTCAGTGA

altered cDNA sequence snippet

AAAGTTCATAGAAACACAGATTCAGTCAGCCACTTCAGTGA

wildtype AA sequence

mutated AA sequence

MSLVELLLWW NCFSRTGVAA SLEVSESPGS IQVARGQPAV LPCTFTTSAA LINLNVIWMV
TPLSNANQPE QVILYQGGQM FDGAPRFHGR VGFTGTMPAT NVSIFINNTQ LSDTGTYQCL
VNNLPDIGGR NIGVTGLTVL VPPSAPHCQI QGSQDIGSDV ILLCSSEEGI PRPTYLWEKL
DNTLKLPPTA TQDQVQGTVT IRNISALSSG LYQCVASNAI GTSTCLLDLQ VISPQPRNIG
LIAGAIGTGA VIIIFCIALI LGAFFYWRSK NKEEEEEEIP NEIREDDLPP KCSSAKAFHT
EISSSDNNTL TSSNAYNSRY WSNNPKVHRN TDSVSHFSDL GQSFSFHSGN ANIPSIYANG
THLVPGQHKT LVVTANRGSS PQVMSRSNGS VSRKPRPPHT HSYTISHATL ERIGAVPVMV
PAQSRAGSLV *

speed

0.70 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

mutation t@sting

Prediction

polymorphism

Problems