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 8 transcript(s)...
Querying Taster for transcript #1: ENST00000389574
Querying Taster for transcript #2: ENST00000405266
Querying Taster for transcript #3: ENST00000401592
Querying Taster for transcript #4: ENST00000403868
Querying Taster for transcript #5: ENST00000456758
Querying Taster for transcript #6: ENST00000457378
Querying Taster for transcript #7: ENST00000452783
Querying Taster for transcript #8: ENST00000425407
MT speed 0 s - this script 6.832876 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
SUN1	polymorphism_automatic	0.809672644335561	simple_aae		affected		H139Y	single base exchange	rs6461378		show file
SUN1	polymorphism_automatic	0.809672644335561	simple_aae		affected		H176Y	single base exchange	rs6461378		show file
SUN1	polymorphism_automatic	0.84707610663568	simple_aae		affected		H68Y	single base exchange	rs6461378		show file
SUN1	polymorphism_automatic	0.84707610663568	simple_aae		affected		H118Y	single base exchange	rs6461378		show file
SUN1	polymorphism_automatic	0.84707610663568	simple_aae		affected		H118Y	single base exchange	rs6461378		show file
SUN1	polymorphism_automatic	0.84707610663568	simple_aae		affected		H118Y	single base exchange	rs6461378		show file
SUN1	polymorphism_automatic	0.84707610663568	simple_aae		affected		H118Y	single base exchange	rs6461378		show file
SUN1	polymorphism_automatic	0.84707610663568	simple_aae		affected		H68Y	single base exchange	rs6461378		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.190327355664439 (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)

chr7:881668C>TN/A show variant in all transcripts IGV

HGNC symbol

SUN1

Ensembl transcript ID

ENST00000457378

Genbank transcript ID

NM_001171945

UniProt peptide

O94901

alteration type

single base exchange

alteration region

CDS

DNA changes

c.415C>T
cDNA.651C>T
g.26141C>T

AA changes

H139Y Score: 83 explain score(s)

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

139

frameshift

known variant

Reference ID: rs6461378

database	homozygous (T/T)	heterozygous	allele carriers
1000G	724	1221	1945
ExAC	13493	5781	19274

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.242	1
	4.185	1
(flanking)	2.098	0.967

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	26134	0.38	mu: TCTGGCGTCAGCTAC	TGGC\|gtca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

139

mutated

all conserved

139

Ptroglodytes

all identical

ENSPTRG00000018833

118

Mmulatta

all identical

ENSMMUG00000017056

118

Fcatus

not conserved

ENSFCAG00000005256

118

Mmusculus

all identical

ENSMUSG00000036817

118

Ggallus

not conserved

ENSGALG00000003781

122

Trubripes

not conserved

ENSTRUG00000015866

129

INTP

Drerio

not conserved

ENSDARG00000055350

126

Dmelanogaster

no alignment

FBgn0033107

n/a

Celegans

no alignment

F54B11.3

n/a

Xtropicalis

not conserved

ENSXETG00000021642

122

protein features

start (aa)	end (aa)	feature	details
1	138	REGION	LMNA-binding.	might get lost (downstream of altered splice site)
1	315	TOPO_DOM	Nuclear.	lost
138	138	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
174	174	CONFLICT	A -> V (in Ref. 1; BAA34530).	might get lost (downstream of altered splice site)
204	204	CONFLICT	A -> P (in Ref. 5; AAH13613).	might get lost (downstream of altered splice site)
209	302	REGION	SYNE2-binding.	might get lost (downstream of altered splice site)
223	302	REGION	EMD-binding.	might get lost (downstream of altered splice site)
316	335	TRANSMEM	Helical.	might get lost (downstream of altered splice site)
336	812	TOPO_DOM	Perinuclear space.	might get lost (downstream of altered splice site)
393	430	COILED	Potential.	might get lost (downstream of altered splice site)
445	445	CONFLICT	P -> L (in Ref. 2; BAG51119).	might get lost (downstream of altered splice site)
455	493	COILED	Potential.	might get lost (downstream of altered splice site)
501	523	COILED	Potential.	might get lost (downstream of altered splice site)
520	520	CONFLICT	R -> Q (in Ref. 2; BAG51119).	might get lost (downstream of altered splice site)
649	811	DOMAIN	SUN.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

837 / 837

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

279 / 279

position of stopcodon in wt / mu cDNA

1073 / 1073

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

237 / 237

chromosome

strand

last intron/exon boundary

778

theoretical NMD boundary in CDS

491

length of CDS

837

coding sequence (CDS) position

415

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

651

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

26141

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

881668

original gDNA sequence snippet

TCACGTCCTCTGGCGTCAGCCACGGCGGCACTGTCAGCCTG

altered gDNA sequence snippet

TCACGTCCTCTGGCGTCAGCTACGGCGGCACTGTCAGCCTG

original cDNA sequence snippet

TCACGTCCTCTGGCGTCAGCCACGGCGGCACTGTCAGCCTG

altered cDNA sequence snippet

TCACGTCCTCTGGCGTCAGCTACGGCGGCACTGTCAGCCTG

wildtype AA sequence

MGRISPGSPG LPRTVWFEVV NMDFSRLHMY SPPQCVPENT GYTYALSSSY SSDALDFETE
HKLDPVFDSP RMSRRSLRLA TTACTLGDGE AVGADSGTSS AVSLKNRAAR TTKQRRSTNK
SAFSINHVSR QVTSSGVSHG GTVSLQDAVT RRPPVLDESW IREQTTVDHF WGLDDDGDLK
GGNKAAIQGN GDVGAAAATA HNGFSCSNCS MLSERKDVLT AHPAAPGPVS RVYSRDRNQK
CKSQSFKTQK KVCFPNLIFP FCKSQCLHYL SWRLKIIP*

mutated AA sequence

MGRISPGSPG LPRTVWFEVV NMDFSRLHMY SPPQCVPENT GYTYALSSSY SSDALDFETE
HKLDPVFDSP RMSRRSLRLA TTACTLGDGE AVGADSGTSS AVSLKNRAAR TTKQRRSTNK
SAFSINHVSR QVTSSGVSYG GTVSLQDAVT RRPPVLDESW IREQTTVDHF WGLDDDGDLK
GGNKAAIQGN GDVGAAAATA HNGFSCSNCS MLSERKDVLT AHPAAPGPVS RVYSRDRNQK
CKSQSFKTQK KVCFPNLIFP FCKSQCLHYL SWRLKIIP*

speed

1.14 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: 0.190327355664439 (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)

chr7:881668C>TN/A show variant in all transcripts IGV

HGNC symbol

SUN1

Ensembl transcript ID

ENST00000456758

Genbank transcript ID

N/A

UniProt peptide

O94901

alteration type

single base exchange

alteration region

CDS

DNA changes

c.526C>T
cDNA.526C>T
g.26141C>T

AA changes

H176Y Score: 83 explain score(s)

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

176

frameshift

known variant

Reference ID: rs6461378

database	homozygous (T/T)	heterozygous	allele carriers
1000G	724	1221	1945
ExAC	13493	5781	19274

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.242	1
	4.185	1
(flanking)	2.098	0.967

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	26134	0.38	mu: TCTGGCGTCAGCTAC	TGGC\|gtca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

176

mutated

all conserved

176

Ptroglodytes

all identical

ENSPTRG00000018833

118

Mmulatta

all identical

ENSMMUG00000017056

118

Fcatus

not conserved

ENSFCAG00000005256

118

Mmusculus

all identical

ENSMUSG00000036817

118

Ggallus

not conserved

ENSGALG00000003781

122

Trubripes

not conserved

ENSTRUG00000015866

129

NTPV

Drerio

not conserved

ENSDARG00000055350

126

Dmelanogaster

no alignment

FBgn0033107

n/a

Celegans

no alignment

F54B11.3

n/a

Xtropicalis

not conserved

ENSXETG00000021642

122

protein features

start (aa)	end (aa)	feature	details
1	315	TOPO_DOM	Nuclear.	lost
174	174	CONFLICT	A -> V (in Ref. 1; BAA34530).	might get lost (downstream of altered splice site)
204	204	CONFLICT	A -> P (in Ref. 5; AAH13613).	might get lost (downstream of altered splice site)
209	302	REGION	SYNE2-binding.	might get lost (downstream of altered splice site)
223	302	REGION	EMD-binding.	might get lost (downstream of altered splice site)
316	335	TRANSMEM	Helical.	might get lost (downstream of altered splice site)
336	812	TOPO_DOM	Perinuclear space.	might get lost (downstream of altered splice site)
393	430	COILED	Potential.	might get lost (downstream of altered splice site)
445	445	CONFLICT	P -> L (in Ref. 2; BAG51119).	might get lost (downstream of altered splice site)
455	493	COILED	Potential.	might get lost (downstream of altered splice site)
501	523	COILED	Potential.	might get lost (downstream of altered splice site)
520	520	CONFLICT	R -> Q (in Ref. 2; BAG51119).	might get lost (downstream of altered splice site)
649	811	DOMAIN	SUN.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2925 / 2925

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

975 / 975

position of stopcodon in wt / mu cDNA

2925 / 2925

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

1 / 1

chromosome

strand

last intron/exon boundary

2809

theoretical NMD boundary in CDS

2758

length of CDS

2925

coding sequence (CDS) position

526

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

526

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

26141

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

881668

original gDNA sequence snippet

TCACGTCCTCTGGCGTCAGCCACGGCGGCACTGTCAGCCTG

altered gDNA sequence snippet

TCACGTCCTCTGGCGTCAGCTACGGCGGCACTGTCAGCCTG

original cDNA sequence snippet

TCACGTCCTCTGGCGTCAGCCACGGCGGCACTGTCAGCCTG

altered cDNA sequence snippet

TCACGTCCTCTGGCGTCAGCTACGGCGGCACTGTCAGCCTG

wildtype AA sequence

MGDVRKAKEA LAEVQIPPPD AGPSPRCKPP PAERLLGPGR RRRGLRRRRE AVWFEVVNMD
FSRLHMYSPP QCVPENTGYT YALSSSYSSD ALDFETEHKL DPVFDSPRMS RRSLRLATTA
CTLGDGEAVG ADSGTSSAVS LKNRAARTTK QRRSTNKSAF SINHVSRQVT SSGVSHGGTV
SLQDAVTRRP PVLDESWIRE QTTVDHFWGL DDDGDLKGGN KAAIQGNGDV GAAAATAHNG
FSCSNCSMLS ERKDVLTAHP AAPGPVSRVY SRDRNQKCGA SFYVNRILWL ARYTASSFSS
FLVQLFQVVL MKLSYESENY KLKTHESKDC ESESYKSKSH ESKAHASYYG RMNVREVLRE
DGHLSVNGEA LCDDCKGKRH LDAHTAAHSQ SPRLPGRAGT LWHIWACAGY FLLQILRRIG
AVGQAVSRTA WSALWLAVVA PGKAASGVFW WLGIGWYQFV TLISWLNVFL LTRCLRNICK
FLVLLIPLFL LLAGLSLRGQ GNFFSFLPVL NWASMHRTQR VDDPQDVFKP TTSRLKQPLQ
GDSEAFPWHW MSGVEQQVAS LSGQCHHHGE NLRELTTLLQ KLQARVDQME GGAAGPSASV
RDAVGQPPRE TDFMAFHQEH EVRMSHLEDI LGKLREKSEA IQKELEQTKQ KTISAVGEQL
LPTVEHLQLE LDQLKSELSS WRHVKTGCET VDAVQERVDV QVREMVKLLF SEDQQGGSLE
QLLQRFSSQF VSKGDLQTML RDLQLQILRN VTHHVSVTKQ LPTSEAVVSA VSEAGASGIT
EAQARAIVNS ALKLYSQDKT GMVDFALESG GGSILSTRCS ETYETKTALM SLFGIPLWYF
SQSPRVVIQP DIYPGNCWAF KGSQGYLVVR LSMMIHPAAF TLEHIPKTLS PTGNISSAPK
DFAVYGLENE YQEEGQLLGQ FTYDQDGESL QMFQALKRPD DTAFQIVELR IFSNWGHPEY
TCLYRFRVHG EPVK*

mutated AA sequence

MGDVRKAKEA LAEVQIPPPD AGPSPRCKPP PAERLLGPGR RRRGLRRRRE AVWFEVVNMD
FSRLHMYSPP QCVPENTGYT YALSSSYSSD ALDFETEHKL DPVFDSPRMS RRSLRLATTA
CTLGDGEAVG ADSGTSSAVS LKNRAARTTK QRRSTNKSAF SINHVSRQVT SSGVSYGGTV
SLQDAVTRRP PVLDESWIRE QTTVDHFWGL DDDGDLKGGN KAAIQGNGDV GAAAATAHNG
FSCSNCSMLS ERKDVLTAHP AAPGPVSRVY SRDRNQKCGA SFYVNRILWL ARYTASSFSS
FLVQLFQVVL MKLSYESENY KLKTHESKDC ESESYKSKSH ESKAHASYYG RMNVREVLRE
DGHLSVNGEA LCDDCKGKRH LDAHTAAHSQ SPRLPGRAGT LWHIWACAGY FLLQILRRIG
AVGQAVSRTA WSALWLAVVA PGKAASGVFW WLGIGWYQFV TLISWLNVFL LTRCLRNICK
FLVLLIPLFL LLAGLSLRGQ GNFFSFLPVL NWASMHRTQR VDDPQDVFKP TTSRLKQPLQ
GDSEAFPWHW MSGVEQQVAS LSGQCHHHGE NLRELTTLLQ KLQARVDQME GGAAGPSASV
RDAVGQPPRE TDFMAFHQEH EVRMSHLEDI LGKLREKSEA IQKELEQTKQ KTISAVGEQL
LPTVEHLQLE LDQLKSELSS WRHVKTGCET VDAVQERVDV QVREMVKLLF SEDQQGGSLE
QLLQRFSSQF VSKGDLQTML RDLQLQILRN VTHHVSVTKQ LPTSEAVVSA VSEAGASGIT
EAQARAIVNS ALKLYSQDKT GMVDFALESG GGSILSTRCS ETYETKTALM SLFGIPLWYF
SQSPRVVIQP DIYPGNCWAF KGSQGYLVVR LSMMIHPAAF TLEHIPKTLS PTGNISSAPK
DFAVYGLENE YQEEGQLLGQ FTYDQDGESL QMFQALKRPD DTAFQIVELR IFSNWGHPEY
TCLYRFRVHG EPVK*

speed

0.85 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.15292389336432 (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)

chr7:881668C>TN/A show variant in all transcripts IGV

HGNC symbol

SUN1

Ensembl transcript ID

ENST00000389574

Genbank transcript ID

NM_025154

UniProt peptide

O94901

alteration type

single base exchange

alteration region

CDS

DNA changes

c.202C>T
cDNA.334C>T
g.26141C>T

AA changes

H68Y Score: 83 explain score(s)

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

frameshift

known variant

Reference ID: rs6461378

database	homozygous (T/T)	heterozygous	allele carriers
1000G	724	1221	1945
ExAC	13493	5781	19274

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.242	1
	4.185	1
(flanking)	2.098	0.967

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	26134	0.38	mu: TCTGGCGTCAGCTAC	TGGC\|gtca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000018833

118

Mmulatta

all identical

ENSMMUG00000017056

118

Fcatus

not conserved

ENSFCAG00000005256

118

Mmusculus

all identical

ENSMUSG00000036817

119

Ggallus

not conserved

ENSGALG00000003781

120

SPI

Trubripes

not conserved

ENSTRUG00000015866

129

NTPV

Drerio

not conserved

ENSDARG00000055350

129

Dmelanogaster

no alignment

FBgn0033107

n/a

Celegans

no alignment

F54B11.3

n/a

Xtropicalis

not conserved

ENSXETG00000021642

121

protein features

start (aa)	end (aa)	feature	details
1	138	REGION	LMNA-binding.	lost
1	315	TOPO_DOM	Nuclear.	lost
78	78	CONFLICT	S -> G (in Ref. 3; CAD98070).	might get lost (downstream of altered splice site)
138	138	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
174	174	CONFLICT	A -> V (in Ref. 1; BAA34530).	might get lost (downstream of altered splice site)
204	204	CONFLICT	A -> P (in Ref. 5; AAH13613).	might get lost (downstream of altered splice site)
209	302	REGION	SYNE2-binding.	might get lost (downstream of altered splice site)
223	302	REGION	EMD-binding.	might get lost (downstream of altered splice site)
316	335	TRANSMEM	Helical.	might get lost (downstream of altered splice site)
336	812	TOPO_DOM	Perinuclear space.	might get lost (downstream of altered splice site)
393	430	COILED	Potential.	might get lost (downstream of altered splice site)
445	445	CONFLICT	P -> L (in Ref. 2; BAG51119).	might get lost (downstream of altered splice site)
455	493	COILED	Potential.	might get lost (downstream of altered splice site)
501	523	COILED	Potential.	might get lost (downstream of altered splice site)
520	520	CONFLICT	R -> Q (in Ref. 2; BAG51119).	might get lost (downstream of altered splice site)
649	811	DOMAIN	SUN.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2109 / 2109

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

703 / 703

position of stopcodon in wt / mu cDNA

2241 / 2241

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

133 / 133

chromosome

strand

last intron/exon boundary

2125

theoretical NMD boundary in CDS

1942

length of CDS

2109

coding sequence (CDS) position

202

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

334

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

26141

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

881668

original gDNA sequence snippet

TCACGTCCTCTGGCGTCAGCCACGGCGGCACTGTCAGCCTG

altered gDNA sequence snippet

TCACGTCCTCTGGCGTCAGCTACGGCGGCACTGTCAGCCTG

original cDNA sequence snippet

TCACGTCCTCTGGCGTCAGCCACGGCGGCACTGTCAGCCTG

altered cDNA sequence snippet

TCACGTCCTCTGGCGTCAGCTACGGCGGCACTGTCAGCCTG

wildtype AA sequence

MSRRSLRLAT TACTLGDGEA VGADSGTSSA VSLKNRAART TKQRRSTNKS AFSINHVSRQ
VTSSGVSHGG TVSLQDAVTR RPPVLDESWI REQTTVDHFW GLDDDGDLKG GNKAAIQGNG
DVGAAAATAH NGFSCSNCSM LSERKDVLTA HPAAPGPVSR VYSRDRNQKW KAASGVFWWL
GIGWYQFVTL ISWLNVFLLT RCLRNICKFL VLLIPLFLLL AGLSLRGQGN FFSFLPVLNW
ASMHRTQRVD DPQDVFKPTT SRLKQPLQGD SEAFPWHWMS GVEQQVASLS GQCHHHGENL
RELTTLLQKL QARVDQMEGG AAGPSASVRD AVGQPPRETD FMAFHQEHEV RMSHLEDILG
KLREKSEAIQ KELEQTKQKT ISAVGEQLLP TVEHLQLELD QLKSELSSWR HVKTGCETVD
AVQERVDVQV REMVKLLFSE DQQGGSLEQL LQRFSSQFVS KGDLQTMLRD LQLQILRNVT
HHVSVTKQLP TSEAVVSAVS EAGASGITEA QARAIVNSAL KLYSQDKTGM VDFALESGGG
SILSTRCSET YETKTALMSL FGIPLWYFSQ SPRVVIQPDI YPGNCWAFKG SQGYLVVRLS
MMIHPAAFTL EHIPKTLSPT GNISSAPKDF AVYGLENEYQ EEGQLLGQFT YDQDGESLQM
FQALKRPDDT AFQIVELRIF SNWGHPEYTC LYRFRVHGEP VK*

mutated AA sequence

MSRRSLRLAT TACTLGDGEA VGADSGTSSA VSLKNRAART TKQRRSTNKS AFSINHVSRQ
VTSSGVSYGG TVSLQDAVTR RPPVLDESWI REQTTVDHFW GLDDDGDLKG GNKAAIQGNG
DVGAAAATAH NGFSCSNCSM LSERKDVLTA HPAAPGPVSR VYSRDRNQKW KAASGVFWWL
GIGWYQFVTL ISWLNVFLLT RCLRNICKFL VLLIPLFLLL AGLSLRGQGN FFSFLPVLNW
ASMHRTQRVD DPQDVFKPTT SRLKQPLQGD SEAFPWHWMS GVEQQVASLS GQCHHHGENL
RELTTLLQKL QARVDQMEGG AAGPSASVRD AVGQPPRETD FMAFHQEHEV RMSHLEDILG
KLREKSEAIQ KELEQTKQKT ISAVGEQLLP TVEHLQLELD QLKSELSSWR HVKTGCETVD
AVQERVDVQV REMVKLLFSE DQQGGSLEQL LQRFSSQFVS KGDLQTMLRD LQLQILRNVT
HHVSVTKQLP TSEAVVSAVS EAGASGITEA QARAIVNSAL KLYSQDKTGM VDFALESGGG
SILSTRCSET YETKTALMSL FGIPLWYFSQ SPRVVIQPDI YPGNCWAFKG SQGYLVVRLS
MMIHPAAFTL EHIPKTLSPT GNISSAPKDF AVYGLENEYQ EEGQLLGQFT YDQDGESLQM
FQALKRPDDT AFQIVELRIF SNWGHPEYTC LYRFRVHGEP VK*

speed

0.85 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.15292389336432 (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)

chr7:881668C>TN/A show variant in all transcripts IGV

HGNC symbol

SUN1

Ensembl transcript ID

ENST00000405266

Genbank transcript ID

N/A

UniProt peptide

O94901

alteration type

single base exchange

alteration region

CDS

DNA changes

c.352C>T
cDNA.376C>T
g.26141C>T

AA changes

H118Y Score: 83 explain score(s)

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

118

frameshift

known variant

Reference ID: rs6461378

database	homozygous (T/T)	heterozygous	allele carriers
1000G	724	1221	1945
ExAC	13493	5781	19274

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.242	1
	4.185	1
(flanking)	2.098	0.967

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	26134	0.38	mu: TCTGGCGTCAGCTAC	TGGC\|gtca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

118

mutated

all conserved

118

Ptroglodytes

all identical

ENSPTRG00000018833

118

Mmulatta

all identical

ENSMMUG00000017056

118

Fcatus

not conserved

ENSFCAG00000005256

118

Mmusculus

all identical

ENSMUSG00000036817

118

Ggallus

not conserved

ENSGALG00000003781

122

Trubripes

not conserved

ENSTRUG00000015866

129

INTP

Drerio

not conserved

ENSDARG00000055350

126

Dmelanogaster

no alignment

FBgn0033107

n/a

Celegans

no alignment

F54B11.3

n/a

Xtropicalis

not conserved

ENSXETG00000021642

120

protein features

start (aa)	end (aa)	feature	details
1	138	REGION	LMNA-binding.	lost
1	315	TOPO_DOM	Nuclear.	lost
138	138	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
174	174	CONFLICT	A -> V (in Ref. 1; BAA34530).	might get lost (downstream of altered splice site)
204	204	CONFLICT	A -> P (in Ref. 5; AAH13613).	might get lost (downstream of altered splice site)
209	302	REGION	SYNE2-binding.	might get lost (downstream of altered splice site)
223	302	REGION	EMD-binding.	might get lost (downstream of altered splice site)
316	335	TRANSMEM	Helical.	might get lost (downstream of altered splice site)
336	812	TOPO_DOM	Perinuclear space.	might get lost (downstream of altered splice site)
393	430	COILED	Potential.	might get lost (downstream of altered splice site)
445	445	CONFLICT	P -> L (in Ref. 2; BAG51119).	might get lost (downstream of altered splice site)
455	493	COILED	Potential.	might get lost (downstream of altered splice site)
501	523	COILED	Potential.	might get lost (downstream of altered splice site)
520	520	CONFLICT	R -> Q (in Ref. 2; BAG51119).	might get lost (downstream of altered splice site)
649	811	DOMAIN	SUN.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2469 / 2469

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

823 / 823

position of stopcodon in wt / mu cDNA

2493 / 2493

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

25 / 25

chromosome

strand

last intron/exon boundary

2377

theoretical NMD boundary in CDS

2302

length of CDS

2469

coding sequence (CDS) position

352

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

376

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

26141

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

881668

original gDNA sequence snippet

TCACGTCCTCTGGCGTCAGCCACGGCGGCACTGTCAGCCTG

altered gDNA sequence snippet

TCACGTCCTCTGGCGTCAGCTACGGCGGCACTGTCAGCCTG

original cDNA sequence snippet

TCACGTCCTCTGGCGTCAGCCACGGCGGCACTGTCAGCCTG

altered cDNA sequence snippet

TCACGTCCTCTGGCGTCAGCTACGGCGGCACTGTCAGCCTG

wildtype AA sequence

MDFSRLHMYS PPQCVPENTG YTYALSSSYS SDALDFETEH KLDPVFDSPR MSRRSLRLAT
TACTLGDGEA VGADSGTSSA VSLKNRAART TKQRRSTNKS AFSINHVSRQ VTSSGVSHGG
TVSLQDAVTR RPPVLDESWI REQTTVDHFW GLDDDGDLKG GNKAAIQGNG DVGAAAATAH
NGFSCSNCSM LSERKDVLTA HPAAPGPVSR VYSRDRNQKC DDCKGKRHLD AHTAAHSQSP
RLPGRAGTLW HIWACAGYFL LQILRRIGAV GQAVSRTAWS ALWLAVVAPG KAASGVFWWL
GIGWYQFVTL ISWLNVFLLT RCLRNICKFL VLLIPLFLLL AGLSLRGQGN FFSFLPVLNW
ASMHRTQRVD DPQDVFKPTT SRLKQPLQGD SEAFPWHWMS GVEQQVASLS GQCHHHGENL
RELTTLLQKL QARVDQMEGG AAGPSASVRD AVGQPPRETD FMAFHQEHEV RMSHLEDILG
KLREKSEAIQ KELEQTKQKT ISAVGEQLLP TVEHLQLELD QLKSELSSWR HVKTGCETVD
AVQERVDVQV REMVKLLFSE DQQGGSLEQL LQRFSSQFVS KGDLQTMLRD LQLQILRNVT
HHVSVTKQLP TSEAVVSAVS EAGASGITEA QARAIVNSAL KLYSQDKTGM VDFALESGGG
SILSTRCSET YETKTALMSL FGIPLWYFSQ SPRVVIQPDI YPGNCWAFKG SQGYLVVRLS
MMIHPAAFTL EHIPKTLSPT GNISSAPKDF AVYGLENEYQ EEGQLLGQFT YDQDGESLQM
FQALKRPDDT AFQIVELRIF SNWGHPEYTC LYRFRVHGEP VK*

mutated AA sequence

MDFSRLHMYS PPQCVPENTG YTYALSSSYS SDALDFETEH KLDPVFDSPR MSRRSLRLAT
TACTLGDGEA VGADSGTSSA VSLKNRAART TKQRRSTNKS AFSINHVSRQ VTSSGVSYGG
TVSLQDAVTR RPPVLDESWI REQTTVDHFW GLDDDGDLKG GNKAAIQGNG DVGAAAATAH
NGFSCSNCSM LSERKDVLTA HPAAPGPVSR VYSRDRNQKC DDCKGKRHLD AHTAAHSQSP
RLPGRAGTLW HIWACAGYFL LQILRRIGAV GQAVSRTAWS ALWLAVVAPG KAASGVFWWL
GIGWYQFVTL ISWLNVFLLT RCLRNICKFL VLLIPLFLLL AGLSLRGQGN FFSFLPVLNW
ASMHRTQRVD DPQDVFKPTT SRLKQPLQGD SEAFPWHWMS GVEQQVASLS GQCHHHGENL
RELTTLLQKL QARVDQMEGG AAGPSASVRD AVGQPPRETD FMAFHQEHEV RMSHLEDILG
KLREKSEAIQ KELEQTKQKT ISAVGEQLLP TVEHLQLELD QLKSELSSWR HVKTGCETVD
AVQERVDVQV REMVKLLFSE DQQGGSLEQL LQRFSSQFVS KGDLQTMLRD LQLQILRNVT
HHVSVTKQLP TSEAVVSAVS EAGASGITEA QARAIVNSAL KLYSQDKTGM VDFALESGGG
SILSTRCSET YETKTALMSL FGIPLWYFSQ SPRVVIQPDI YPGNCWAFKG SQGYLVVRLS
MMIHPAAFTL EHIPKTLSPT GNISSAPKDF AVYGLENEYQ EEGQLLGQFT YDQDGESLQM
FQALKRPDDT AFQIVELRIF SNWGHPEYTC LYRFRVHGEP VK*

speed

0.88 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.15292389336432 (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)

chr7:881668C>TN/A show variant in all transcripts IGV

HGNC symbol

SUN1

Ensembl transcript ID

ENST00000401592

Genbank transcript ID

NM_001130965

UniProt peptide

O94901

alteration type

single base exchange

alteration region

CDS

DNA changes

c.352C>T
cDNA.376C>T
g.26141C>T

AA changes

H118Y Score: 83 explain score(s)

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

118

frameshift

known variant

Reference ID: rs6461378

database	homozygous (T/T)	heterozygous	allele carriers
1000G	724	1221	1945
ExAC	13493	5781	19274

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.242	1
	4.185	1
(flanking)	2.098	0.967

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	26134	0.38	mu: TCTGGCGTCAGCTAC	TGGC\|gtca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

118

mutated

all conserved

118

Ptroglodytes

all identical

ENSPTRG00000018833

118

Mmulatta

all identical

ENSMMUG00000017056

118

Fcatus

not conserved

ENSFCAG00000005256

118

Mmusculus

all identical

ENSMUSG00000036817

118

Ggallus

not conserved

ENSGALG00000003781

122

Trubripes

not conserved

ENSTRUG00000015866

129

INTP

Drerio

not conserved

ENSDARG00000055350

126

Dmelanogaster

no alignment

FBgn0033107

n/a

Celegans

no alignment

F54B11.3

n/a

Xtropicalis

not conserved

ENSXETG00000021642

120

protein features

start (aa)	end (aa)	feature	details
1	138	REGION	LMNA-binding.	lost
1	315	TOPO_DOM	Nuclear.	lost
138	138	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
174	174	CONFLICT	A -> V (in Ref. 1; BAA34530).	might get lost (downstream of altered splice site)
204	204	CONFLICT	A -> P (in Ref. 5; AAH13613).	might get lost (downstream of altered splice site)
209	302	REGION	SYNE2-binding.	might get lost (downstream of altered splice site)
223	302	REGION	EMD-binding.	might get lost (downstream of altered splice site)
316	335	TRANSMEM	Helical.	might get lost (downstream of altered splice site)
336	812	TOPO_DOM	Perinuclear space.	might get lost (downstream of altered splice site)
393	430	COILED	Potential.	might get lost (downstream of altered splice site)
445	445	CONFLICT	P -> L (in Ref. 2; BAG51119).	might get lost (downstream of altered splice site)
455	493	COILED	Potential.	might get lost (downstream of altered splice site)
501	523	COILED	Potential.	might get lost (downstream of altered splice site)
520	520	CONFLICT	R -> Q (in Ref. 2; BAG51119).	might get lost (downstream of altered splice site)
649	811	DOMAIN	SUN.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2358 / 2358

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

786 / 786

position of stopcodon in wt / mu cDNA

2382 / 2382

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

25 / 25

chromosome

strand

last intron/exon boundary

2266

theoretical NMD boundary in CDS

2191

length of CDS

2358

coding sequence (CDS) position

352

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

376

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

26141

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

881668

original gDNA sequence snippet

TCACGTCCTCTGGCGTCAGCCACGGCGGCACTGTCAGCCTG

altered gDNA sequence snippet

TCACGTCCTCTGGCGTCAGCTACGGCGGCACTGTCAGCCTG

original cDNA sequence snippet

TCACGTCCTCTGGCGTCAGCCACGGCGGCACTGTCAGCCTG

altered cDNA sequence snippet

TCACGTCCTCTGGCGTCAGCTACGGCGGCACTGTCAGCCTG

wildtype AA sequence

MDFSRLHMYS PPQCVPENTG YTYALSSSYS SDALDFETEH KLDPVFDSPR MSRRSLRLAT
TACTLGDGEA VGADSGTSSA VSLKNRAART TKQRRSTNKS AFSINHVSRQ VTSSGVSHGG
TVSLQDAVTR RPPVLDESWI REQTTVDHFW GLDDDGDLKG GNKAAIQGNG DVGAAAATAH
NGFSCSNCSM LSERKDVLTA HPAAPGPVSR VYSRDRNQKC YFLLQILRRI GAVGQAVSRT
AWSALWLAVV APGKAASGVF WWLGIGWYQF VTLISWLNVF LLTRCLRNIC KFLVLLIPLF
LLLAGLSLRG QGNFFSFLPV LNWASMHRTQ RVDDPQDVFK PTTSRLKQPL QGDSEAFPWH
WMSGVEQQVA SLSGQCHHHG ENLRELTTLL QKLQARVDQM EGGAAGPSAS VRDAVGQPPR
ETDFMAFHQE HEVRMSHLED ILGKLREKSE AIQKELEQTK QKTISAVGEQ LLPTVEHLQL
ELDQLKSELS SWRHVKTGCE TVDAVQERVD VQVREMVKLL FSEDQQGGSL EQLLQRFSSQ
FVSKGDLQTM LRDLQLQILR NVTHHVSVTK QLPTSEAVVS AVSEAGASGI TEAQARAIVN
SALKLYSQDK TGMVDFALES GGGSILSTRC SETYETKTAL MSLFGIPLWY FSQSPRVVIQ
PDIYPGNCWA FKGSQGYLVV RLSMMIHPAA FTLEHIPKTL SPTGNISSAP KDFAVYGLEN
EYQEEGQLLG QFTYDQDGES LQMFQALKRP DDTAFQIVEL RIFSNWGHPE YTCLYRFRVH
GEPVK*

mutated AA sequence

MDFSRLHMYS PPQCVPENTG YTYALSSSYS SDALDFETEH KLDPVFDSPR MSRRSLRLAT
TACTLGDGEA VGADSGTSSA VSLKNRAART TKQRRSTNKS AFSINHVSRQ VTSSGVSYGG
TVSLQDAVTR RPPVLDESWI REQTTVDHFW GLDDDGDLKG GNKAAIQGNG DVGAAAATAH
NGFSCSNCSM LSERKDVLTA HPAAPGPVSR VYSRDRNQKC YFLLQILRRI GAVGQAVSRT
AWSALWLAVV APGKAASGVF WWLGIGWYQF VTLISWLNVF LLTRCLRNIC KFLVLLIPLF
LLLAGLSLRG QGNFFSFLPV LNWASMHRTQ RVDDPQDVFK PTTSRLKQPL QGDSEAFPWH
WMSGVEQQVA SLSGQCHHHG ENLRELTTLL QKLQARVDQM EGGAAGPSAS VRDAVGQPPR
ETDFMAFHQE HEVRMSHLED ILGKLREKSE AIQKELEQTK QKTISAVGEQ LLPTVEHLQL
ELDQLKSELS SWRHVKTGCE TVDAVQERVD VQVREMVKLL FSEDQQGGSL EQLLQRFSSQ
FVSKGDLQTM LRDLQLQILR NVTHHVSVTK QLPTSEAVVS AVSEAGASGI TEAQARAIVN
SALKLYSQDK TGMVDFALES GGGSILSTRC SETYETKTAL MSLFGIPLWY FSQSPRVVIQ
PDIYPGNCWA FKGSQGYLVV RLSMMIHPAA FTLEHIPKTL SPTGNISSAP KDFAVYGLEN
EYQEEGQLLG QFTYDQDGES LQMFQALKRP DDTAFQIVEL RIFSNWGHPE YTCLYRFRVH
GEPVK*

speed

0.96 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.15292389336432 (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)

chr7:881668C>TN/A show variant in all transcripts IGV

HGNC symbol

SUN1

Ensembl transcript ID

ENST00000403868

Genbank transcript ID

NM_001171946

UniProt peptide

O94901

alteration type

single base exchange

alteration region

CDS

DNA changes

c.352C>T
cDNA.374C>T
g.26141C>T

AA changes

H118Y Score: 83 explain score(s)

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

118

frameshift

known variant

Reference ID: rs6461378

database	homozygous (T/T)	heterozygous	allele carriers
1000G	724	1221	1945
ExAC	13493	5781	19274

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.242	1
	4.185	1
(flanking)	2.098	0.967

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	26134	0.38	mu: TCTGGCGTCAGCTAC	TGGC\|gtca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

118

mutated

all conserved

118

Ptroglodytes

all identical

ENSPTRG00000018833

118

Mmulatta

all identical

ENSMMUG00000017056

118

Fcatus

not conserved

ENSFCAG00000005256

118

Mmusculus

all identical

ENSMUSG00000036817

118

Ggallus

not conserved

ENSGALG00000003781

122

Trubripes

not conserved

ENSTRUG00000015866

129

INTP

Drerio

not conserved

ENSDARG00000055350

126

Dmelanogaster

no alignment

FBgn0033107

n/a

Celegans

no alignment

F54B11.3

n/a

Xtropicalis

not conserved

ENSXETG00000021642

120

protein features

start (aa)	end (aa)	feature	details
1	138	REGION	LMNA-binding.	lost
1	315	TOPO_DOM	Nuclear.	lost
138	138	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
174	174	CONFLICT	A -> V (in Ref. 1; BAA34530).	might get lost (downstream of altered splice site)
204	204	CONFLICT	A -> P (in Ref. 5; AAH13613).	might get lost (downstream of altered splice site)
209	302	REGION	SYNE2-binding.	might get lost (downstream of altered splice site)
223	302	REGION	EMD-binding.	might get lost (downstream of altered splice site)
316	335	TRANSMEM	Helical.	might get lost (downstream of altered splice site)
336	812	TOPO_DOM	Perinuclear space.	might get lost (downstream of altered splice site)
393	430	COILED	Potential.	might get lost (downstream of altered splice site)
445	445	CONFLICT	P -> L (in Ref. 2; BAG51119).	might get lost (downstream of altered splice site)
455	493	COILED	Potential.	might get lost (downstream of altered splice site)
501	523	COILED	Potential.	might get lost (downstream of altered splice site)
520	520	CONFLICT	R -> Q (in Ref. 2; BAG51119).	might get lost (downstream of altered splice site)
649	811	DOMAIN	SUN.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

774 / 774

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

258 / 258

position of stopcodon in wt / mu cDNA

796 / 796

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

23 / 23

chromosome

strand

last intron/exon boundary

501

theoretical NMD boundary in CDS

428

length of CDS

774

coding sequence (CDS) position

352

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

374

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

26141

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

881668

original gDNA sequence snippet

TCACGTCCTCTGGCGTCAGCCACGGCGGCACTGTCAGCCTG

altered gDNA sequence snippet

TCACGTCCTCTGGCGTCAGCTACGGCGGCACTGTCAGCCTG

original cDNA sequence snippet

TCACGTCCTCTGGCGTCAGCCACGGCGGCACTGTCAGCCTG

altered cDNA sequence snippet

TCACGTCCTCTGGCGTCAGCTACGGCGGCACTGTCAGCCTG

wildtype AA sequence

mutated AA sequence

speed

0.91 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.15292389336432 (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)

chr7:881668C>TN/A show variant in all transcripts IGV

HGNC symbol

SUN1

Ensembl transcript ID

ENST00000452783

Genbank transcript ID

NM_001171944

UniProt peptide

O94901

alteration type

single base exchange

alteration region

CDS

DNA changes

c.352C>T
cDNA.431C>T
g.26141C>T

AA changes

H118Y Score: 83 explain score(s)

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

118

frameshift

known variant

Reference ID: rs6461378

database	homozygous (T/T)	heterozygous	allele carriers
1000G	724	1221	1945
ExAC	13493	5781	19274

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.242	1
	4.185	1
(flanking)	2.098	0.967

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	26134	0.38	mu: TCTGGCGTCAGCTAC	TGGC\|gtca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

118

mutated

all conserved

118

Ptroglodytes

all identical

ENSPTRG00000018833

118

Mmulatta

all identical

ENSMMUG00000017056

118

Fcatus

not conserved

ENSFCAG00000005256

118

Mmusculus

all identical

ENSMUSG00000036817

118

Ggallus

not conserved

ENSGALG00000003781

122

Trubripes

not conserved

ENSTRUG00000015866

129

INTP

Drerio

not conserved

ENSDARG00000055350

126

Dmelanogaster

no alignment

FBgn0033107

n/a

Celegans

no alignment

F54B11.3

n/a

Xtropicalis

not conserved

ENSXETG00000021642

120

protein features

start (aa)	end (aa)	feature	details
1	138	REGION	LMNA-binding.	lost
1	315	TOPO_DOM	Nuclear.	lost
138	138	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
174	174	CONFLICT	A -> V (in Ref. 1; BAA34530).	might get lost (downstream of altered splice site)
204	204	CONFLICT	A -> P (in Ref. 5; AAH13613).	might get lost (downstream of altered splice site)
209	302	REGION	SYNE2-binding.	might get lost (downstream of altered splice site)
223	302	REGION	EMD-binding.	might get lost (downstream of altered splice site)
316	335	TRANSMEM	Helical.	might get lost (downstream of altered splice site)
336	812	TOPO_DOM	Perinuclear space.	might get lost (downstream of altered splice site)
393	430	COILED	Potential.	might get lost (downstream of altered splice site)
445	445	CONFLICT	P -> L (in Ref. 2; BAG51119).	might get lost (downstream of altered splice site)
455	493	COILED	Potential.	might get lost (downstream of altered splice site)
501	523	COILED	Potential.	might get lost (downstream of altered splice site)
520	520	CONFLICT	R -> Q (in Ref. 2; BAG51119).	might get lost (downstream of altered splice site)
649	811	DOMAIN	SUN.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2049 / 2049

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

683 / 683

position of stopcodon in wt / mu cDNA

2128 / 2128

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

80 / 80

chromosome

strand

last intron/exon boundary

2012

theoretical NMD boundary in CDS

1882

length of CDS

2049

coding sequence (CDS) position

352

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

431

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

26141

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

881668

original gDNA sequence snippet

TCACGTCCTCTGGCGTCAGCCACGGCGGCACTGTCAGCCTG

altered gDNA sequence snippet

TCACGTCCTCTGGCGTCAGCTACGGCGGCACTGTCAGCCTG

original cDNA sequence snippet

TCACGTCCTCTGGCGTCAGCCACGGCGGCACTGTCAGCCTG

altered cDNA sequence snippet

TCACGTCCTCTGGCGTCAGCTACGGCGGCACTGTCAGCCTG

wildtype AA sequence

MDFSRLHMYS PPQCVPENTG YTYALSSSYS SDALDFETEH KLDPVFDSPR MSRRSLRLAT
TACTLGDGEA VGADSGTSSA VSLKNRAART TKQRRSTNKS AFSINHVSRQ VTSSGVSHGG
TVSLQDAVTR RPPVLDESWI REQTTVDHFW GKAASGVFWW LGIGWYQFVT LISWLNVFLL
TRCLRNICKF LVLLIPLFLL LGLSLRGQGN FFSFLPVLNW ASMHRTQRVD DPQDVFKPTT
SRLKQPLQGD SEAFPWHWMS GVEQQVASLS GQCHHHGENL RELTTLLQKL QARVDQMEGG
AAGPSASVRD AVGQPPRETD FMAFHQEHEV RMSHLEDILG KLREKSEAIQ KELEQTKQKT
ISAVGEQLLP TVEHLQLELD QLKSELSSWR HVKTGCETVD AVQERVDVQV REMVKLLFSE
DQQGGSLEQL LQRFSSQFVS KGDLQTMLRD LQLQILRNVT HHVSVTKQLP TSEAVVSAVS
EAGASGITEA QARAIVNSAL KLYSQDKTGM VDFALESGGG SILSTRCSET YETKTALMSL
FGIPLWYFSQ SPRVVIQPDI YPGNCWAFKG SQGYLVVRLS MMIHPAAFTL EHIPKTLSPT
GNISSAPKDF AVYGLENEYQ EEGQLLGQFT YDQDGESLQM FQALKRPDDT AFQIVELRIF
SNWGHPEYTC LYRFRVHGEP VK*

mutated AA sequence

MDFSRLHMYS PPQCVPENTG YTYALSSSYS SDALDFETEH KLDPVFDSPR MSRRSLRLAT
TACTLGDGEA VGADSGTSSA VSLKNRAART TKQRRSTNKS AFSINHVSRQ VTSSGVSYGG
TVSLQDAVTR RPPVLDESWI REQTTVDHFW GKAASGVFWW LGIGWYQFVT LISWLNVFLL
TRCLRNICKF LVLLIPLFLL LGLSLRGQGN FFSFLPVLNW ASMHRTQRVD DPQDVFKPTT
SRLKQPLQGD SEAFPWHWMS GVEQQVASLS GQCHHHGENL RELTTLLQKL QARVDQMEGG
AAGPSASVRD AVGQPPRETD FMAFHQEHEV RMSHLEDILG KLREKSEAIQ KELEQTKQKT
ISAVGEQLLP TVEHLQLELD QLKSELSSWR HVKTGCETVD AVQERVDVQV REMVKLLFSE
DQQGGSLEQL LQRFSSQFVS KGDLQTMLRD LQLQILRNVT HHVSVTKQLP TSEAVVSAVS
EAGASGITEA QARAIVNSAL KLYSQDKTGM VDFALESGGG SILSTRCSET YETKTALMSL
FGIPLWYFSQ SPRVVIQPDI YPGNCWAFKG SQGYLVVRLS MMIHPAAFTL EHIPKTLSPT
GNISSAPKDF AVYGLENEYQ EEGQLLGQFT YDQDGESLQM FQALKRPDDT AFQIVELRIF
SNWGHPEYTC LYRFRVHGEP VK*

speed

0.81 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.15292389336432 (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)

chr7:881668C>TN/A show variant in all transcripts IGV

HGNC symbol

SUN1

Ensembl transcript ID

ENST00000425407

Genbank transcript ID

N/A

UniProt peptide

O94901

alteration type

single base exchange

alteration region

CDS

DNA changes

c.202C>T
cDNA.372C>T
g.26141C>T

AA changes

H68Y Score: 83 explain score(s)

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

frameshift

known variant

Reference ID: rs6461378

database	homozygous (T/T)	heterozygous	allele carriers
1000G	724	1221	1945
ExAC	13493	5781	19274

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.242	1
	4.185	1
(flanking)	2.098	0.967

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	26134	0.38	mu: TCTGGCGTCAGCTAC	TGGC\|gtca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000018833

118

Mmulatta

all identical

ENSMMUG00000017056

118

Fcatus

not conserved

ENSFCAG00000005256

118

Mmusculus

all identical

ENSMUSG00000036817

119

Ggallus

not conserved

ENSGALG00000003781

120

SPI

Trubripes

not conserved

ENSTRUG00000015866

129

NTPV

Drerio

not conserved

ENSDARG00000055350

129

Dmelanogaster

no alignment

FBgn0033107

n/a

Celegans

no alignment

F54B11.3

n/a

Xtropicalis

not conserved

ENSXETG00000021642

121

protein features

start (aa)	end (aa)	feature	details
1	138	REGION	LMNA-binding.	lost
1	315	TOPO_DOM	Nuclear.	lost
78	78	CONFLICT	S -> G (in Ref. 3; CAD98070).	might get lost (downstream of altered splice site)
138	138	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
174	174	CONFLICT	A -> V (in Ref. 1; BAA34530).	might get lost (downstream of altered splice site)
204	204	CONFLICT	A -> P (in Ref. 5; AAH13613).	might get lost (downstream of altered splice site)
209	302	REGION	SYNE2-binding.	might get lost (downstream of altered splice site)
223	302	REGION	EMD-binding.	might get lost (downstream of altered splice site)
316	335	TRANSMEM	Helical.	might get lost (downstream of altered splice site)
336	812	TOPO_DOM	Perinuclear space.	might get lost (downstream of altered splice site)
393	430	COILED	Potential.	might get lost (downstream of altered splice site)
445	445	CONFLICT	P -> L (in Ref. 2; BAG51119).	might get lost (downstream of altered splice site)
455	493	COILED	Potential.	might get lost (downstream of altered splice site)
501	523	COILED	Potential.	might get lost (downstream of altered splice site)
520	520	CONFLICT	R -> Q (in Ref. 2; BAG51119).	might get lost (downstream of altered splice site)
649	811	DOMAIN	SUN.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2109 / 2109

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

703 / 703

position of stopcodon in wt / mu cDNA

2279 / 2279

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

171 / 171

chromosome

strand

last intron/exon boundary

2163

theoretical NMD boundary in CDS

1942

length of CDS

2109

coding sequence (CDS) position

202

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

372

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

26141

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

881668

original gDNA sequence snippet

TCACGTCCTCTGGCGTCAGCCACGGCGGCACTGTCAGCCTG

altered gDNA sequence snippet

TCACGTCCTCTGGCGTCAGCTACGGCGGCACTGTCAGCCTG

original cDNA sequence snippet

TCACGTCCTCTGGCGTCAGCCACGGCGGCACTGTCAGCCTG

altered cDNA sequence snippet

TCACGTCCTCTGGCGTCAGCTACGGCGGCACTGTCAGCCTG

wildtype AA sequence

mutated AA sequence

speed

0.81 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

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems