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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000322610
Querying Taster for transcript #2: ENST00000337120
Querying Taster for transcript #3: ENST00000538342
Querying Taster for transcript #4: ENST00000395532
MT speed 0 s - this script 5.131118 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
SH2B1	polymorphism_automatic	4.78371234957642e-07	simple_aae		affected		T484A	single base exchange	rs7498665		show file
SH2B1	polymorphism_automatic	4.78371234957642e-07	simple_aae		affected		T148A	single base exchange	rs7498665		show file
SH2B1	polymorphism_automatic	4.78371234957642e-07	simple_aae		affected		T484A	single base exchange	rs7498665		show file
SH2B1	polymorphism_automatic	4.78371234957642e-07	simple_aae		affected		T484A	single base exchange	rs7498665		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999521628765 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM0910248)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr16:28883241A>GN/A show variant in all transcripts IGV

HGNC symbol

SH2B1

Ensembl transcript ID

ENST00000337120

Genbank transcript ID

NM_001145796

UniProt peptide

Q9NRF2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1450A>G
cDNA.4741A>G
g.25321A>G

AA changes

T484A Score: 58 explain score(s)

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

484

frameshift

known variant

Reference ID: rs7498665

database	homozygous (G/G)	heterozygous	allele carriers
1000G	222	865	1087
ExAC	8052	16663	24715

known disease mutation at this position, please check HGMD for details (HGMD ID CM0910248)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.247	0.927
	0.239	0.936
(flanking)	1.37	0.977

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 gained	25320	0.94	mu: CCCCCAGCAGGGACA	CCCA\|gcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

484

mutated

not conserved

484

Ptroglodytes

not conserved

ENSPTRG00000007940

435

Mmulatta

not conserved

ENSMMUG00000023524

458

Fcatus

not conserved

ENSFCAG00000003104

484

Mmusculus

not conserved

ENSMUSG00000030733

484

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000057679

672

RLLG

Dmelanogaster

all conserved

FBgn0028717

401

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1	555	REGION	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).	lost
494	494	MOD_RES	Phosphotyrosine; by JAK1, JAK2 (By similarity).	might get lost (downstream of altered splice site)
519	519	CONFLICT	D -> G (in Ref. 3; BAF83021).	might get lost (downstream of altered splice site)
527	625	DOMAIN	SH2.	might get lost (downstream of altered splice site)
555	555	MUTAGEN	R->A: Abolishes self-association and interaction with INSR and IGF1R.	might get lost (downstream of altered splice site)
624	624	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2016 / 2016

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

672 / 672

position of stopcodon in wt / mu cDNA

5307 / 5307

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

3292 / 3292

chromosome

strand

last intron/exon boundary

5289

theoretical NMD boundary in CDS

1947

length of CDS

2016

coding sequence (CDS) position

1450

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

4741

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

25321

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

28883241

original gDNA sequence snippet

CCATTGAAGAGGGACCCCCAACAGGGACAGTTCATCCCCTC

altered gDNA sequence snippet

CCATTGAAGAGGGACCCCCAGCAGGGACAGTTCATCCCCTC

original cDNA sequence snippet

CCATTGAAGAGGGACCCCCAACAGGGACAGTTCATCCCCTC

altered cDNA sequence snippet

CCATTGAAGAGGGACCCCCAGCAGGGACAGTTCATCCCCTC

wildtype AA sequence

MNGAPSPEDG ASPSSPPLPP PPPPSWREFC ESHARAAALD FARRFRLYLA SHPQYAGPGA
EAAFSRRFAE LFLQHFEAEV ARASGSLSPP ILAPLSPGAE ISPHDLSLES CRVGGPLAVL
GPSRSSEDLA GPLPSSVSSS STTSSKPKLK KRFSLRSVGR SVRGSVRGIL QWRGTVDPPS
SAGPLETSSG PPVLGGNSNS NSSGGAGTVG RGLVSDGTSP GERWTHRFER LRLSRGGGAL
KDGAGMVQRE ELLSFMGAEE AAPDPAGVGR GGGVAGPPSG GGGQPQWQKC RLLLRSEGEG
GGGSRLEFFV PPKASRPRLS IPCSSITDVR TTTALEMPDR ENTFVVKVEG PSEYIMETVD
AQHVKAWVSD IQECLSPGPC PATSPRPMTL PLAPGTSFLT RENTDSLELS CLNHSESLPS
QDLLLGPSES NDRLSQGAYG GLSDRPSASI SPSSASIAAS HFDSMELLPP ELPPRIPIEE
GPPTGTVHPL SAPYPPLDTP ETATGSFLFQ GEPEGGEGDQ PLSGYPWFHG MLSRLKAAQL
VLTGGTGSHG VFLVRQSETR RGEYVLTFNF QGKAKHLRLS LNEEGQCRVQ HLWFQSIFDM
LEHFRVHPIP LESGGSSDVV LVSYVPSSQR QQGREQAGSH AGVCEGDGCH PDASCTLMPF
GASDCVTDHL P*

mutated AA sequence

MNGAPSPEDG ASPSSPPLPP PPPPSWREFC ESHARAAALD FARRFRLYLA SHPQYAGPGA
EAAFSRRFAE LFLQHFEAEV ARASGSLSPP ILAPLSPGAE ISPHDLSLES CRVGGPLAVL
GPSRSSEDLA GPLPSSVSSS STTSSKPKLK KRFSLRSVGR SVRGSVRGIL QWRGTVDPPS
SAGPLETSSG PPVLGGNSNS NSSGGAGTVG RGLVSDGTSP GERWTHRFER LRLSRGGGAL
KDGAGMVQRE ELLSFMGAEE AAPDPAGVGR GGGVAGPPSG GGGQPQWQKC RLLLRSEGEG
GGGSRLEFFV PPKASRPRLS IPCSSITDVR TTTALEMPDR ENTFVVKVEG PSEYIMETVD
AQHVKAWVSD IQECLSPGPC PATSPRPMTL PLAPGTSFLT RENTDSLELS CLNHSESLPS
QDLLLGPSES NDRLSQGAYG GLSDRPSASI SPSSASIAAS HFDSMELLPP ELPPRIPIEE
GPPAGTVHPL SAPYPPLDTP ETATGSFLFQ GEPEGGEGDQ PLSGYPWFHG MLSRLKAAQL
VLTGGTGSHG VFLVRQSETR RGEYVLTFNF QGKAKHLRLS LNEEGQCRVQ HLWFQSIFDM
LEHFRVHPIP LESGGSSDVV LVSYVPSSQR QQGREQAGSH AGVCEGDGCH PDASCTLMPF
GASDCVTDHL P*

speed

1.09 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: 0.999999521628765 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM0910248)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr16:28883241A>GN/A show variant in all transcripts IGV

HGNC symbol

SH2B1

Ensembl transcript ID

ENST00000538342

Genbank transcript ID

N/A

UniProt peptide

Q9NRF2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.442A>G
cDNA.608A>G
g.25321A>G

AA changes

T148A Score: 58 explain score(s)

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

148

frameshift

known variant

Reference ID: rs7498665

database	homozygous (G/G)	heterozygous	allele carriers
1000G	222	865	1087
ExAC	8052	16663	24715

known disease mutation at this position, please check HGMD for details (HGMD ID CM0910248)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.247	0.927
	0.239	0.936
(flanking)	1.37	0.977

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 gained	25320	0.94	mu: CCCCCAGCAGGGACA	CCCA\|gcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

148

mutated

not conserved

148

Ptroglodytes

not conserved

ENSPTRG00000007940

435

Mmulatta

not conserved

ENSMMUG00000023524

458

Fcatus

not conserved

ENSFCAG00000003104

484

Mmusculus

not conserved

ENSMUSG00000030733

484

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000057679

681

RLLG

Dmelanogaster

all conserved

FBgn0028717

401

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1	555	REGION	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).	lost
85	196	REGION	Interaction with RAC1 (By similarity).	lost
100	243	REGION	Required for NGF signaling (By similarity).	lost
197	197	CONFLICT	N -> D (in Ref. 3; BAF83021).	might get lost (downstream of altered splice site)
224	233	REGION	Required for nuclear localization (By similarity).	might get lost (downstream of altered splice site)
267	376	DOMAIN	PH.	might get lost (downstream of altered splice site)
439	439	MOD_RES	Phosphotyrosine; by JAK1, JAK2 and PDGFR (By similarity).	might get lost (downstream of altered splice site)
494	494	MOD_RES	Phosphotyrosine; by JAK1, JAK2 (By similarity).	might get lost (downstream of altered splice site)
519	519	CONFLICT	D -> G (in Ref. 3; BAF83021).	might get lost (downstream of altered splice site)
527	625	DOMAIN	SH2.	might get lost (downstream of altered splice site)
555	555	MUTAGEN	R->A: Abolishes self-association and interaction with INSR and IGF1R.	might get lost (downstream of altered splice site)
624	624	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1008 / 1008

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

336 / 336

position of stopcodon in wt / mu cDNA

1174 / 1174

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

167 / 167

chromosome

strand

last intron/exon boundary

1156

theoretical NMD boundary in CDS

939

length of CDS

1008

coding sequence (CDS) position

442

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

608

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

25321

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

28883241

original gDNA sequence snippet

CCATTGAAGAGGGACCCCCAACAGGGACAGTTCATCCCCTC

altered gDNA sequence snippet

CCATTGAAGAGGGACCCCCAGCAGGGACAGTTCATCCCCTC

original cDNA sequence snippet

CCATTGAAGAGGGACCCCCAACAGGGACAGTTCATCCCCTC

altered cDNA sequence snippet

CCATTGAAGAGGGACCCCCAGCAGGGACAGTTCATCCCCTC

wildtype AA sequence

MPDRENTFVV KVEGPSEYIM ETVDAQHVKA WVSDIQECLS PGPCPATSPR PMTLPLAPGT
SFLTRENTDS LELSCLNHSE SLPSQDLLLG PSESNDRLSQ GAYGGLSDRP SASISPSSAS
IAASHFDSME LLPPELPPRI PIEEGPPTGT VHPLSAPYPP LDTPETATGS FLFQGEPEGG
EGDQPLSGYP WFHGMLSRLK AAQLVLTGGT GSHGVFLVRQ SETRRGEYVL TFNFQGKAKH
LRLSLNEEGQ CRVQHLWFQS IFDMLEHFRV HPIPLESGGS SDVVLVSYVP SSQRQQGREQ
AGSHAGVCEG DGCHPDASCT LMPFGASDCV TDHLP*

mutated AA sequence

MPDRENTFVV KVEGPSEYIM ETVDAQHVKA WVSDIQECLS PGPCPATSPR PMTLPLAPGT
SFLTRENTDS LELSCLNHSE SLPSQDLLLG PSESNDRLSQ GAYGGLSDRP SASISPSSAS
IAASHFDSME LLPPELPPRI PIEEGPPAGT VHPLSAPYPP LDTPETATGS FLFQGEPEGG
EGDQPLSGYP WFHGMLSRLK AAQLVLTGGT GSHGVFLVRQ SETRRGEYVL TFNFQGKAKH
LRLSLNEEGQ CRVQHLWFQS IFDMLEHFRV HPIPLESGGS SDVVLVSYVP SSQRQQGREQ
AGSHAGVCEG DGCHPDASCT LMPFGASDCV TDHLP*

speed

1.05 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999521628765 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM0910248)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr16:28883241A>GN/A show variant in all transcripts IGV

HGNC symbol

SH2B1

Ensembl transcript ID

ENST00000322610

Genbank transcript ID

NM_001145795

UniProt peptide

Q9NRF2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1450A>G
cDNA.1889A>G
g.25321A>G

AA changes

T484A Score: 58 explain score(s)

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

484

frameshift

known variant

Reference ID: rs7498665

database	homozygous (G/G)	heterozygous	allele carriers
1000G	222	865	1087
ExAC	8052	16663	24715

known disease mutation at this position, please check HGMD for details (HGMD ID CM0910248)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.247	0.927
	0.239	0.936
(flanking)	1.37	0.977

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 gained	25320	0.94	mu: CCCCCAGCAGGGACA	CCCA\|gcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

484

mutated

not conserved

484

Ptroglodytes

not conserved

ENSPTRG00000007940

435

Mmulatta

not conserved

ENSMMUG00000023524

458

Fcatus

not conserved

ENSFCAG00000003104

484

Mmusculus

not conserved

ENSMUSG00000030733

484

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000057679

672

RLLG

Dmelanogaster

all conserved

FBgn0028717

401

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1	555	REGION	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).	lost
494	494	MOD_RES	Phosphotyrosine; by JAK1, JAK2 (By similarity).	might get lost (downstream of altered splice site)
519	519	CONFLICT	D -> G (in Ref. 3; BAF83021).	might get lost (downstream of altered splice site)
527	625	DOMAIN	SH2.	might get lost (downstream of altered splice site)
555	555	MUTAGEN	R->A: Abolishes self-association and interaction with INSR and IGF1R.	might get lost (downstream of altered splice site)
624	624	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2271 / 2271

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

757 / 757

position of stopcodon in wt / mu cDNA

2710 / 2710

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

440 / 440

chromosome

strand

last intron/exon boundary

2337

theoretical NMD boundary in CDS

1847

length of CDS

2271

coding sequence (CDS) position

1450

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

1889

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

25321

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

28883241

original gDNA sequence snippet

CCATTGAAGAGGGACCCCCAACAGGGACAGTTCATCCCCTC

altered gDNA sequence snippet

CCATTGAAGAGGGACCCCCAGCAGGGACAGTTCATCCCCTC

original cDNA sequence snippet

CCATTGAAGAGGGACCCCCAACAGGGACAGTTCATCCCCTC

altered cDNA sequence snippet

CCATTGAAGAGGGACCCCCAGCAGGGACAGTTCATCCCCTC

wildtype AA sequence

mutated AA sequence

MNGAPSPEDG ASPSSPPLPP PPPPSWREFC ESHARAAALD FARRFRLYLA SHPQYAGPGA
EAAFSRRFAE LFLQHFEAEV ARASGSLSPP ILAPLSPGAE ISPHDLSLES CRVGGPLAVL
GPSRSSEDLA GPLPSSVSSS STTSSKPKLK KRFSLRSVGR SVRGSVRGIL QWRGTVDPPS
SAGPLETSSG PPVLGGNSNS NSSGGAGTVG RGLVSDGTSP GERWTHRFER LRLSRGGGAL
KDGAGMVQRE ELLSFMGAEE AAPDPAGVGR GGGVAGPPSG GGGQPQWQKC RLLLRSEGEG
GGGSRLEFFV PPKASRPRLS IPCSSITDVR TTTALEMPDR ENTFVVKVEG PSEYIMETVD
AQHVKAWVSD IQECLSPGPC PATSPRPMTL PLAPGTSFLT RENTDSLELS CLNHSESLPS
QDLLLGPSES NDRLSQGAYG GLSDRPSASI SPSSASIAAS HFDSMELLPP ELPPRIPIEE
GPPAGTVHPL SAPYPPLDTP ETATGSFLFQ GEPEGGEGDQ PLSGYPWFHG MLSRLKAAQL
VLTGGTGSHG VFLVRQSETR RGEYVLTFNF QGKAKHLRLS LNEEGQCRVQ HLWFQSIFDM
LEHFRVHPIP LESGGSSDVV LVSYVPSSQR QQEPTTSHDP PQPPEPPSWT DPPQPGAEEA
SRAPEVAAAA AAAAKERQEK EKAGGGGVPE ELVPVVELVP VVELEEAIAP GSEAQGAGSG
GDAGVPPMVQ LQQSPLGGDG EEGGHPRAIN NQYSFV*

speed

1.05 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999521628765 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM0910248)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr16:28883241A>GN/A show variant in all transcripts IGV

HGNC symbol

SH2B1

Ensembl transcript ID

ENST00000395532

Genbank transcript ID

N/A

UniProt peptide

Q9NRF2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1450A>G
cDNA.1821A>G
g.25321A>G

AA changes

T484A Score: 58 explain score(s)

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

484

frameshift

known variant

Reference ID: rs7498665

database	homozygous (G/G)	heterozygous	allele carriers
1000G	222	865	1087
ExAC	8052	16663	24715

known disease mutation at this position, please check HGMD for details (HGMD ID CM0910248)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.247	0.927
	0.239	0.936
(flanking)	1.37	0.977

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 gained	25320	0.94	mu: CCCCCAGCAGGGACA	CCCA\|gcag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

484

mutated

not conserved

484

Ptroglodytes

not conserved

ENSPTRG00000007940

435

Mmulatta

not conserved

ENSMMUG00000023524

458

Fcatus

not conserved

ENSFCAG00000003104

484

Mmusculus

not conserved

ENSMUSG00000030733

484

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000057679

672

RLLG

Dmelanogaster

all conserved

FBgn0028717

401

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1	555	REGION	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).	lost
494	494	MOD_RES	Phosphotyrosine; by JAK1, JAK2 (By similarity).	might get lost (downstream of altered splice site)
519	519	CONFLICT	D -> G (in Ref. 3; BAF83021).	might get lost (downstream of altered splice site)
527	625	DOMAIN	SH2.	might get lost (downstream of altered splice site)
555	555	MUTAGEN	R->A: Abolishes self-association and interaction with INSR and IGF1R.	might get lost (downstream of altered splice site)
624	624	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2016 / 2016

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

672 / 672

position of stopcodon in wt / mu cDNA

2387 / 2387

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

372 / 372

chromosome

strand

last intron/exon boundary

2369

theoretical NMD boundary in CDS

1947

length of CDS

2016

coding sequence (CDS) position

1450

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

1821

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

25321

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

28883241

original gDNA sequence snippet

CCATTGAAGAGGGACCCCCAACAGGGACAGTTCATCCCCTC

altered gDNA sequence snippet

CCATTGAAGAGGGACCCCCAGCAGGGACAGTTCATCCCCTC

original cDNA sequence snippet

CCATTGAAGAGGGACCCCCAACAGGGACAGTTCATCCCCTC

altered cDNA sequence snippet

CCATTGAAGAGGGACCCCCAGCAGGGACAGTTCATCCCCTC

wildtype AA sequence

mutated AA sequence

MNGAPSPEDG ASPSSPPLPP PPPPSWREFC ESHARAAALD FARRFRLYLA SHPQYAGPGA
EAAFSRRFAE LFLQHFEAEV ARASGSLSPP ILAPLSPGAE ISPHDLSLES CRVGGPLAVL
GPSRSSEDLA GPLPSSVSSS STTSSKPKLK KRFSLRSVGR SVRGSVRGIL QWRGTVDPPS
SAGPLETSSG PPVLGGNSNS NSSGGAGTVG RGLVSDGTSP GERWTHRFER LRLSRGGGAL
KDGAGMVQRE ELLSFMGAEE AAPDPAGVGR GGGVAGPPSG GGGQPQWQKC RLLLRSEGEG
GGGSRLEFFV PPKASRPRLS IPCSSITDVR TTTALEMPDR ENTFVVKVEG PSEYIMETVD
AQHVKAWVSD IQECLSPGPC PATSPRPMTL PLAPGTSFLT RENTDSLELS CLNHSESLPS
QDLLLGPSES NDRLSQGAYG GLSDRPSASI SPSSASIAAS HFDSMELLPP ELPPRIPIEE
GPPAGTVHPL SAPYPPLDTP ETATGSFLFQ GEPEGGEGDQ PLSGYPWFHG MLSRLKAAQL
VLTGGTGSHG VFLVRQSETR RGEYVLTFNF QGKAKHLRLS LNEEGQCRVQ HLWFQSIFDM
LEHFRVHPIP LESGGSSDVV LVSYVPSSQR QQGREQAGSH AGVCEGDGCH PDASCTLMPF
GASDCVTDHL P*

speed

0.87 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