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 7 transcript(s)...
Querying Taster for transcript #1: ENST00000373563
Querying Taster for transcript #2: ENST00000409480
Querying Taster for transcript #3: ENST00000409547
Querying Taster for transcript #4: ENST00000409196
Querying Taster for transcript #5: ENST00000409451
Querying Taster for transcript #6: ENST00000373566
Querying Taster for transcript #7: ENST00000452341
MT speed 0 s - this script 8.021896 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
GIGYF2	disease_causing	0.999512580056294	simple_aae		affected		D437E	single base exchange	rs118203903		show file
GIGYF2	disease_causing	0.999768351562476	simple_aae		affected		D628E	single base exchange	rs118203903		show file
GIGYF2	disease_causing	0.999768351562476	simple_aae		affected		D627E	single base exchange	rs118203903		show file
GIGYF2	disease_causing	0.999768351562476	simple_aae		affected		D628E	single base exchange	rs118203903		show file
GIGYF2	disease_causing	0.999942217744155	simple_aae		affected		D606E	single base exchange	rs118203903		show file
GIGYF2	disease_causing	0.999942217744155	simple_aae		affected		D606E	single base exchange	rs118203903		show file
GIGYF2	disease_causing	0.999942217744155	simple_aae		affected		D600E	single base exchange	rs118203903		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999512580056294 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM081291)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:233674441C>GN/A show variant in all transcripts IGV

HGNC symbol

GIGYF2

Ensembl transcript ID

ENST00000452341

Genbank transcript ID

N/A

UniProt peptide

Q6Y7W6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1311C>G
cDNA.1392C>G
g.112433C>G

AA changes

D437E Score: 45 explain score(s)

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

437

frameshift

known variant

Reference ID: rs118203903
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM081291)

known disease mutation at this position, please check HGMD for details (HGMD ID CM081291)
known disease mutation at this position, please check HGMD for details (HGMD ID CM081291)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.92	1
	1.397	1
(flanking)	5.942	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	112430	wt: 0.4044 / mu: 0.4218 (marginal change - not scored)	wt: GAGCTGGACCAGGAA mu: GAGCTGGAGCAGGAA	GCTG\|gacc
Donor gained	112427	0.55	mu: GGAGAGCTGGAGCAG	AGAG\|ctgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

437

mutated

all conserved

437

Ptroglodytes

all identical

ENSPTRG00000028976

627

Mmulatta

all identical

ENSMMUG00000012211

641

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000048000

607

Ggallus

all identical

ENSGALG00000001482

286

Trubripes

all identical

ENSTRUG00000008935

626

Drerio

all identical

ENSDARG00000009735

629

Dmelanogaster

no alignment

FBgn0039936

n/a

Celegans

all conserved

C18H9.3

450

Xtropicalis

all conserved

ENSXETG00000013890

545

protein features

start (aa)	end (aa)	feature	details
436	473	COMPBIAS	Pro-rich.	lost
533	581	DOMAIN	GYF.	might get lost (downstream of altered splice site)
547	563	REGION	Required for GRB10-binding (By similarity).	might get lost (downstream of altered splice site)
593	593	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
607	1025	COMPBIAS	Gln-rich.	might get lost (downstream of altered splice site)
738	888	COMPBIAS	Glu-rich.	might get lost (downstream of altered splice site)
792	792	CONFLICT	E -> G (in Ref. 5; CAD98095).	might get lost (downstream of altered splice site)
1153	1153	CONFLICT	D -> G (in Ref. 5; CAD98095).	might get lost (downstream of altered splice site)
1198	1252	COMPBIAS	Gln-rich.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2619 / 2619

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

873 / 873

position of stopcodon in wt / mu cDNA

2700 / 2700

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

82 / 82

chromosome

strand

last intron/exon boundary

2708

theoretical NMD boundary in CDS

2576

length of CDS

2619

coding sequence (CDS) position

1311

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

1392

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

112433

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

233674441

original gDNA sequence snippet

CATTCCTAGGGAGAGCTGGACCAGGAACGACTGACCAGGCA

altered gDNA sequence snippet

CATTCCTAGGGAGAGCTGGAGCAGGAACGACTGACCAGGCA

original cDNA sequence snippet

CCTCATATGGGAGAGCTGGACCAGGAACGACTGACCAGGCA

altered cDNA sequence snippet

CCTCATATGGGAGAGCTGGAGCAGGAACGACTGACCAGGCA

wildtype AA sequence

MTKLPDDPGR PNFEEGGPTS VGRKHEFIRS ESENWRIFRE EQNGEDEDGG WRLAGSRRDG
ERWRPHSPDG PRSAGWREHM ERRRRFEFDF RDRDDERGYR RVRSGSGSID DDRDSLPEWC
LEDAEEEMGT FDSSGAFLSL KKVQKEPIPE EQEMDFRPVD EGEECSDSEG SHNEEAKEPD
KTNKKEGEKT DRVGVEASEE TPQTSSSSAR PGTPSDHQSQ EASQFERKDE PKTEQTEKAE
EETRMENSLP AKVPSRGDEM VADVQQPLSQ IPSDTASPLL ILPPPVPNPS PTLRPVETPV
VGAPGMGSVS TEPDDEEGLK HLEQQAEKMV AYLQDSALDD ERLASKLQEH RAKGVSIPLM
HEAMQKWYYK DPQGEIQGPF NNQEMAEWFQ AGYFTMSLLV KRACDESFQP LGDIMKMWGR
VPFSPGPAPP PHMGELDQER LTRQQELTAL YQMQHLQYQQ FLIQQQYAQV LAQQQKAALS
SQQQQQLALL LQQFQTLKMR ISDQNIIPSV TRSVSVPDTG SIWELQPTAS QPTVWEGGSV
WDLPLDTTTP GPALEQLQQL EKAKAAKLEQ ERREAEMRAK REEEERKRQE ELRRQQEEIL
RRQQEEERKR REEEELARRK QEEALRRQRE QEIALRRQRE EEERQQQEEA LRRLEERRRE
EEERRKQEEL LRKQEEEAAK WAREEEEAQR RLEENRLRME EEAARLRHEE EERKRKELEV
QRQKELMRQR QQQQEALRRL QQQQQQQQLA QMKLPSSSTW GQQSNTTACQ SQATLSLAEI
QKLEEERERQ LREEESSASF CFYATAKAPA EGVDESSSAA AATATAETLR LGECQQTFRY
HEISSGDPAG RGQANAKAAA AAAATPATKQ SS*

mutated AA sequence

MTKLPDDPGR PNFEEGGPTS VGRKHEFIRS ESENWRIFRE EQNGEDEDGG WRLAGSRRDG
ERWRPHSPDG PRSAGWREHM ERRRRFEFDF RDRDDERGYR RVRSGSGSID DDRDSLPEWC
LEDAEEEMGT FDSSGAFLSL KKVQKEPIPE EQEMDFRPVD EGEECSDSEG SHNEEAKEPD
KTNKKEGEKT DRVGVEASEE TPQTSSSSAR PGTPSDHQSQ EASQFERKDE PKTEQTEKAE
EETRMENSLP AKVPSRGDEM VADVQQPLSQ IPSDTASPLL ILPPPVPNPS PTLRPVETPV
VGAPGMGSVS TEPDDEEGLK HLEQQAEKMV AYLQDSALDD ERLASKLQEH RAKGVSIPLM
HEAMQKWYYK DPQGEIQGPF NNQEMAEWFQ AGYFTMSLLV KRACDESFQP LGDIMKMWGR
VPFSPGPAPP PHMGELEQER LTRQQELTAL YQMQHLQYQQ FLIQQQYAQV LAQQQKAALS
SQQQQQLALL LQQFQTLKMR ISDQNIIPSV TRSVSVPDTG SIWELQPTAS QPTVWEGGSV
WDLPLDTTTP GPALEQLQQL EKAKAAKLEQ ERREAEMRAK REEEERKRQE ELRRQQEEIL
RRQQEEERKR REEEELARRK QEEALRRQRE QEIALRRQRE EEERQQQEEA LRRLEERRRE
EEERRKQEEL LRKQEEEAAK WAREEEEAQR RLEENRLRME EEAARLRHEE EERKRKELEV
QRQKELMRQR QQQQEALRRL QQQQQQQQLA QMKLPSSSTW GQQSNTTACQ SQATLSLAEI
QKLEEERERQ LREEESSASF CFYATAKAPA EGVDESSSAA AATATAETLR LGECQQTFRY
HEISSGDPAG RGQANAKAAA AAAATPATKQ SS*

speed

1.18 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

disease causing

Model: simple_aae, prob: 0.999768351562476 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM081291)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:233674441C>GN/A show variant in all transcripts IGV

HGNC symbol

GIGYF2

Ensembl transcript ID

ENST00000409480

Genbank transcript ID

N/A

UniProt peptide

Q6Y7W6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1884C>G
cDNA.2146C>G
g.112433C>G

AA changes

D628E Score: 45 explain score(s)

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

628

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.92	1
	1.397	1
(flanking)	5.942	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	112430	wt: 0.4044 / mu: 0.4218 (marginal change - not scored)	wt: GAGCTGGACCAGGAA mu: GAGCTGGAGCAGGAA	GCTG\|gacc
Donor gained	112427	0.55	mu: GGAGAGCTGGAGCAG	AGAG\|ctgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

628

mutated

all conserved

628

Ptroglodytes

all identical

ENSPTRG00000028976

627

Mmulatta

all identical

ENSMMUG00000012211

641

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000048000

607

Ggallus

all identical

ENSGALG00000001482

286

Trubripes

all identical

ENSTRUG00000008935

626

Drerio

all identical

ENSDARG00000009735

629

Dmelanogaster

not conserved

FBgn0039936

647

Celegans

all conserved

C18H9.3

450

Xtropicalis

all conserved

ENSXETG00000013890

545

protein features

start (aa)	end (aa)	feature	details
607	1025	COMPBIAS	Gln-rich.	lost
738	888	COMPBIAS	Glu-rich.	might get lost (downstream of altered splice site)
792	792	CONFLICT	E -> G (in Ref. 5; CAD98095).	might get lost (downstream of altered splice site)
1153	1153	CONFLICT	D -> G (in Ref. 5; CAD98095).	might get lost (downstream of altered splice site)
1198	1252	COMPBIAS	Gln-rich.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3966 / 3966

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

1322 / 1322

position of stopcodon in wt / mu cDNA

4228 / 4228

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

263 / 263

chromosome

strand

last intron/exon boundary

4161

theoretical NMD boundary in CDS

3848

length of CDS

3966

coding sequence (CDS) position

1884

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

2146

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

112433

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

233674441

original gDNA sequence snippet

CATTCCTAGGGAGAGCTGGACCAGGAACGACTGACCAGGCA

altered gDNA sequence snippet

CATTCCTAGGGAGAGCTGGAGCAGGAACGACTGACCAGGCA

original cDNA sequence snippet

CCTCATATGGGAGAGCTGGACCAGGAACGACTGACCAGGCA

altered cDNA sequence snippet

CCTCATATGGGAGAGCTGGAGCAGGAACGACTGACCAGGCA

wildtype AA sequence

MAAETQTLNF GPEWLRALSS GGSITSPPLS PALPKYKLAD YRYGREEMLA LFLKDNKIPS
DLLDKEFLPI LQEEPLPPLA LVPFTEEEQR NFSMSVNSAA VLRLTGRGGG GTVVGAPRGR
SSSRGRGRGR GECGFYQRSF DEVEGVFGRG GGREMHRSQS WEERGDRRFE KPGRKDVGKK
NGYYCMYSPV LLLGQPLCQG RPNFEEGGPT SVGRKHEFIR SESENWRIFR EEQNGEDEDG
GWRLAGSRRD GERWRPHSPD GPRSAGWREH MERRRRFEFD FRDRDDERGY RRVRSGSGSI
DDDRDSLPEW CLEDAEEEMG TFDSSGAFLS LKKVQKEPIP EEQEMDFRPV DEGEECSDSE
GSHNEEAKEP DKTNKKEGEK TDRVGVEASE ETPQTSSSSA RPGTPSDHQS QEASQFERKD
EPKTEQTEKA EEETRMENSL PAKVPSRGDE MVADVQQPLS QIPSDTASPL LILPPPVPNP
SPTLRPVETP VVGAPGMGSV STEPDDEEGL KHLEQQAEKM VAYLQDSALD DERLASKLQE
HRAKGVSIPL MHEAMQKWYY KDPQGEIQGP FNNQEMAEWF QAGYFTMSLL VKRACDESFQ
PLGDIMKMWG RVPFSPGPAP PPHMGELDQE RLTRQQELTA LYQMQHLQYQ QFLIQQQYAQ
VLAQQQKAAL SSQQQQQLAL LLQQFQTLKM RISDQNIIPS VTRSVSVPDT GSIWELQPTA
SQPTVWEGGS VWDLPLDTTT PGPALEQLQQ LEKAKAAKLE QERREAEMRA KREEEERKRQ
EELRRQQEEI LRRQQEEERK RREEEELARR KQEEALRRQR EQEIALRRQR EEEERQQQEE
ALRRLEERRR EEEERRKQEE LLRKQEEEAA KWAREEEEAQ RRLEENRLRM EEEAARLRHE
EEERKRKELE VQRQKELMRQ RQQQQEALRR LQQQQQQQQL AQMKLPSSST WGQQSNTTAC
QSQATLSLAE IQKLEEERER QLREEQRRQQ RELMKALQQQ QQQQQQKLSG WGNVSKPSGT
TKSLLEIQQE EARQMQKQQQ QQQQHQQPNR ARNNTHSNLH TSIGNSVWGS INTGPPNQWA
SDLVSSIWSN ADTKNSNMGF WDDAVKEVGP RNSTNKNKNN ASLSKSVGVS NRQNKKVEEE
EKLLKLFQGV NKAQDGFTQW CEQMLHALNT ANNLDVPTFV SFLKEVESPY EVHDYIRAYL
GDTSEAKEFA KQFLERRAKQ KANQQRQQQQ LPQQQQQQPP QQPPQQPQQQ DSVWGMNHST
LHSVFQTNQS NNQQSNFEAV QSGKKKKKQK MVRADPSLLG FSVNASSERL NMGEIETLDD
Y*

mutated AA sequence

MAAETQTLNF GPEWLRALSS GGSITSPPLS PALPKYKLAD YRYGREEMLA LFLKDNKIPS
DLLDKEFLPI LQEEPLPPLA LVPFTEEEQR NFSMSVNSAA VLRLTGRGGG GTVVGAPRGR
SSSRGRGRGR GECGFYQRSF DEVEGVFGRG GGREMHRSQS WEERGDRRFE KPGRKDVGKK
NGYYCMYSPV LLLGQPLCQG RPNFEEGGPT SVGRKHEFIR SESENWRIFR EEQNGEDEDG
GWRLAGSRRD GERWRPHSPD GPRSAGWREH MERRRRFEFD FRDRDDERGY RRVRSGSGSI
DDDRDSLPEW CLEDAEEEMG TFDSSGAFLS LKKVQKEPIP EEQEMDFRPV DEGEECSDSE
GSHNEEAKEP DKTNKKEGEK TDRVGVEASE ETPQTSSSSA RPGTPSDHQS QEASQFERKD
EPKTEQTEKA EEETRMENSL PAKVPSRGDE MVADVQQPLS QIPSDTASPL LILPPPVPNP
SPTLRPVETP VVGAPGMGSV STEPDDEEGL KHLEQQAEKM VAYLQDSALD DERLASKLQE
HRAKGVSIPL MHEAMQKWYY KDPQGEIQGP FNNQEMAEWF QAGYFTMSLL VKRACDESFQ
PLGDIMKMWG RVPFSPGPAP PPHMGELEQE RLTRQQELTA LYQMQHLQYQ QFLIQQQYAQ
VLAQQQKAAL SSQQQQQLAL LLQQFQTLKM RISDQNIIPS VTRSVSVPDT GSIWELQPTA
SQPTVWEGGS VWDLPLDTTT PGPALEQLQQ LEKAKAAKLE QERREAEMRA KREEEERKRQ
EELRRQQEEI LRRQQEEERK RREEEELARR KQEEALRRQR EQEIALRRQR EEEERQQQEE
ALRRLEERRR EEEERRKQEE LLRKQEEEAA KWAREEEEAQ RRLEENRLRM EEEAARLRHE
EEERKRKELE VQRQKELMRQ RQQQQEALRR LQQQQQQQQL AQMKLPSSST WGQQSNTTAC
QSQATLSLAE IQKLEEERER QLREEQRRQQ RELMKALQQQ QQQQQQKLSG WGNVSKPSGT
TKSLLEIQQE EARQMQKQQQ QQQQHQQPNR ARNNTHSNLH TSIGNSVWGS INTGPPNQWA
SDLVSSIWSN ADTKNSNMGF WDDAVKEVGP RNSTNKNKNN ASLSKSVGVS NRQNKKVEEE
EKLLKLFQGV NKAQDGFTQW CEQMLHALNT ANNLDVPTFV SFLKEVESPY EVHDYIRAYL
GDTSEAKEFA KQFLERRAKQ KANQQRQQQQ LPQQQQQQPP QQPPQQPQQQ DSVWGMNHST
LHSVFQTNQS NNQQSNFEAV QSGKKKKKQK MVRADPSLLG FSVNASSERL NMGEIETLDD
Y*

speed

1.26 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999768351562476 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM081291)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:233674441C>GN/A show variant in all transcripts IGV

HGNC symbol

GIGYF2

Ensembl transcript ID

ENST00000409451

Genbank transcript ID

NM_001103147

UniProt peptide

Q6Y7W6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1881C>G
cDNA.2107C>G
g.112433C>G

AA changes

D627E Score: 45 explain score(s)

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

627

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.92	1
	1.397	1
(flanking)	5.942	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	112430	wt: 0.4044 / mu: 0.4218 (marginal change - not scored)	wt: GAGCTGGACCAGGAA mu: GAGCTGGAGCAGGAA	GCTG\|gacc
Donor gained	112427	0.55	mu: GGAGAGCTGGAGCAG	AGAG\|ctgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

627

mutated

all conserved

627

Ptroglodytes

all identical

ENSPTRG00000028976

627

Mmulatta

all identical

ENSMMUG00000012211

641

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000048000

607

Ggallus

all identical

ENSGALG00000001482

286

Trubripes

all identical

ENSTRUG00000008935

626

Drerio

all identical

ENSDARG00000009735

629

Dmelanogaster

not conserved

FBgn0039936

647

Celegans

all conserved

C18H9.3

450

Xtropicalis

all conserved

ENSXETG00000013890

545

protein features

start (aa)	end (aa)	feature	details
607	1025	COMPBIAS	Gln-rich.	lost
738	888	COMPBIAS	Glu-rich.	might get lost (downstream of altered splice site)
792	792	CONFLICT	E -> G (in Ref. 5; CAD98095).	might get lost (downstream of altered splice site)
1153	1153	CONFLICT	D -> G (in Ref. 5; CAD98095).	might get lost (downstream of altered splice site)
1198	1252	COMPBIAS	Gln-rich.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3963 / 3963

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

1321 / 1321

position of stopcodon in wt / mu cDNA

4189 / 4189

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

227 / 227

chromosome

strand

last intron/exon boundary

4122

theoretical NMD boundary in CDS

3845

length of CDS

3963

coding sequence (CDS) position

1881

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

2107

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

112433

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

233674441

original gDNA sequence snippet

CATTCCTAGGGAGAGCTGGACCAGGAACGACTGACCAGGCA

altered gDNA sequence snippet

CATTCCTAGGGAGAGCTGGAGCAGGAACGACTGACCAGGCA

original cDNA sequence snippet

CCTCATATGGGAGAGCTGGACCAGGAACGACTGACCAGGCA

altered cDNA sequence snippet

CCTCATATGGGAGAGCTGGAGCAGGAACGACTGACCAGGCA

wildtype AA sequence

MAAETQTLNF GPEWLRALSS GGSITSPPLS PALPKYKLAD YRYGREEMLA LFLKDNKIPS
DLLDKEFLPI LQEEPLPPLA LVPFTEEEQR NFSMSVNSAA VLRLTGRGGG GTVVGAPRGR
SSSRGRGRGR GECGFYQRSF DEVEGVFGRG GGREMHRSQS WEERGDRRFE KPGRKDVGKK
NGYYCMYSPV LLLGQPLCQG RPNFEEGGPT SVGRKHEFIR SESENWRIFR EEQNGEDEDG
GWRLAGSRRD GERWRPHSPD GPRSAGWREH MERRRRFEFD FRDRDDERGY RRVRSGSGSI
DDDRDSLPEW CLEDAEEEMG TFDSSGAFLS LKKVQKEPIP EEQEMDFRPV DEGEECSDSE
GSHNEEAKEP DKTNKKEGEK TDRVGVASEE TPQTSSSSAR PGTPSDHQSQ EASQFERKDE
PKTEQTEKAE EETRMENSLP AKVPSRGDEM VADVQQPLSQ IPSDTASPLL ILPPPVPNPS
PTLRPVETPV VGAPGMGSVS TEPDDEEGLK HLEQQAEKMV AYLQDSALDD ERLASKLQEH
RAKGVSIPLM HEAMQKWYYK DPQGEIQGPF NNQEMAEWFQ AGYFTMSLLV KRACDESFQP
LGDIMKMWGR VPFSPGPAPP PHMGELDQER LTRQQELTAL YQMQHLQYQQ FLIQQQYAQV
LAQQQKAALS SQQQQQLALL LQQFQTLKMR ISDQNIIPSV TRSVSVPDTG SIWELQPTAS
QPTVWEGGSV WDLPLDTTTP GPALEQLQQL EKAKAAKLEQ ERREAEMRAK REEEERKRQE
ELRRQQEEIL RRQQEEERKR REEEELARRK QEEALRRQRE QEIALRRQRE EEERQQQEEA
LRRLEERRRE EEERRKQEEL LRKQEEEAAK WAREEEEAQR RLEENRLRME EEAARLRHEE
EERKRKELEV QRQKELMRQR QQQQEALRRL QQQQQQQQLA QMKLPSSSTW GQQSNTTACQ
SQATLSLAEI QKLEEERERQ LREEQRRQQR ELMKALQQQQ QQQQQKLSGW GNVSKPSGTT
KSLLEIQQEE ARQMQKQQQQ QQQHQQPNRA RNNTHSNLHT SIGNSVWGSI NTGPPNQWAS
DLVSSIWSNA DTKNSNMGFW DDAVKEVGPR NSTNKNKNNA SLSKSVGVSN RQNKKVEEEE
KLLKLFQGVN KAQDGFTQWC EQMLHALNTA NNLDVPTFVS FLKEVESPYE VHDYIRAYLG
DTSEAKEFAK QFLERRAKQK ANQQRQQQQL PQQQQQQPPQ QPPQQPQQQD SVWGMNHSTL
HSVFQTNQSN NQQSNFEAVQ SGKKKKKQKM VRADPSLLGF SVNASSERLN MGEIETLDDY
*

mutated AA sequence

MAAETQTLNF GPEWLRALSS GGSITSPPLS PALPKYKLAD YRYGREEMLA LFLKDNKIPS
DLLDKEFLPI LQEEPLPPLA LVPFTEEEQR NFSMSVNSAA VLRLTGRGGG GTVVGAPRGR
SSSRGRGRGR GECGFYQRSF DEVEGVFGRG GGREMHRSQS WEERGDRRFE KPGRKDVGKK
NGYYCMYSPV LLLGQPLCQG RPNFEEGGPT SVGRKHEFIR SESENWRIFR EEQNGEDEDG
GWRLAGSRRD GERWRPHSPD GPRSAGWREH MERRRRFEFD FRDRDDERGY RRVRSGSGSI
DDDRDSLPEW CLEDAEEEMG TFDSSGAFLS LKKVQKEPIP EEQEMDFRPV DEGEECSDSE
GSHNEEAKEP DKTNKKEGEK TDRVGVASEE TPQTSSSSAR PGTPSDHQSQ EASQFERKDE
PKTEQTEKAE EETRMENSLP AKVPSRGDEM VADVQQPLSQ IPSDTASPLL ILPPPVPNPS
PTLRPVETPV VGAPGMGSVS TEPDDEEGLK HLEQQAEKMV AYLQDSALDD ERLASKLQEH
RAKGVSIPLM HEAMQKWYYK DPQGEIQGPF NNQEMAEWFQ AGYFTMSLLV KRACDESFQP
LGDIMKMWGR VPFSPGPAPP PHMGELEQER LTRQQELTAL YQMQHLQYQQ FLIQQQYAQV
LAQQQKAALS SQQQQQLALL LQQFQTLKMR ISDQNIIPSV TRSVSVPDTG SIWELQPTAS
QPTVWEGGSV WDLPLDTTTP GPALEQLQQL EKAKAAKLEQ ERREAEMRAK REEEERKRQE
ELRRQQEEIL RRQQEEERKR REEEELARRK QEEALRRQRE QEIALRRQRE EEERQQQEEA
LRRLEERRRE EEERRKQEEL LRKQEEEAAK WAREEEEAQR RLEENRLRME EEAARLRHEE
EERKRKELEV QRQKELMRQR QQQQEALRRL QQQQQQQQLA QMKLPSSSTW GQQSNTTACQ
SQATLSLAEI QKLEEERERQ LREEQRRQQR ELMKALQQQQ QQQQQKLSGW GNVSKPSGTT
KSLLEIQQEE ARQMQKQQQQ QQQHQQPNRA RNNTHSNLHT SIGNSVWGSI NTGPPNQWAS
DLVSSIWSNA DTKNSNMGFW DDAVKEVGPR NSTNKNKNNA SLSKSVGVSN RQNKKVEEEE
KLLKLFQGVN KAQDGFTQWC EQMLHALNTA NNLDVPTFVS FLKEVESPYE VHDYIRAYLG
DTSEAKEFAK QFLERRAKQK ANQQRQQQQL PQQQQQQPPQ QPPQQPQQQD SVWGMNHSTL
HSVFQTNQSN NQQSNFEAVQ SGKKKKKQKM VRADPSLLGF SVNASSERLN MGEIETLDDY
*

speed

1.07 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999768351562476 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM081291)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:233674441C>GN/A show variant in all transcripts IGV

HGNC symbol

GIGYF2

Ensembl transcript ID

ENST00000373566

Genbank transcript ID

NM_001103146

UniProt peptide

Q6Y7W6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1884C>G
cDNA.2081C>G
g.112433C>G

AA changes

D628E Score: 45 explain score(s)

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

628

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.92	1
	1.397	1
(flanking)	5.942	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	112430	wt: 0.4044 / mu: 0.4218 (marginal change - not scored)	wt: GAGCTGGACCAGGAA mu: GAGCTGGAGCAGGAA	GCTG\|gacc
Donor gained	112427	0.55	mu: GGAGAGCTGGAGCAG	AGAG\|ctgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

628

mutated

all conserved

628

Ptroglodytes

all identical

ENSPTRG00000028976

627

Mmulatta

all identical

ENSMMUG00000012211

641

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000048000

607

Ggallus

all identical

ENSGALG00000001482

286

Trubripes

all identical

ENSTRUG00000008935

626

Drerio

all identical

ENSDARG00000009735

629

Dmelanogaster

not conserved

FBgn0039936

647

Celegans

all conserved

C18H9.3

450

Xtropicalis

all conserved

ENSXETG00000013890

545

protein features

start (aa)	end (aa)	feature	details
607	1025	COMPBIAS	Gln-rich.	lost
738	888	COMPBIAS	Glu-rich.	might get lost (downstream of altered splice site)
792	792	CONFLICT	E -> G (in Ref. 5; CAD98095).	might get lost (downstream of altered splice site)
1153	1153	CONFLICT	D -> G (in Ref. 5; CAD98095).	might get lost (downstream of altered splice site)
1198	1252	COMPBIAS	Gln-rich.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3966 / 3966

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

1322 / 1322

position of stopcodon in wt / mu cDNA

4163 / 4163

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

198 / 198

chromosome

strand

last intron/exon boundary

4096

theoretical NMD boundary in CDS

3848

length of CDS

3966

coding sequence (CDS) position

1884

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

2081

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

112433

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

233674441

original gDNA sequence snippet

CATTCCTAGGGAGAGCTGGACCAGGAACGACTGACCAGGCA

altered gDNA sequence snippet

CATTCCTAGGGAGAGCTGGAGCAGGAACGACTGACCAGGCA

original cDNA sequence snippet

CCTCATATGGGAGAGCTGGACCAGGAACGACTGACCAGGCA

altered cDNA sequence snippet

CCTCATATGGGAGAGCTGGAGCAGGAACGACTGACCAGGCA

wildtype AA sequence

mutated AA sequence

MAAETQTLNF GPEWLRALSS GGSITSPPLS PALPKYKLAD YRYGREEMLA LFLKDNKIPS
DLLDKEFLPI LQEEPLPPLA LVPFTEEEQR NFSMSVNSAA VLRLTGRGGG GTVVGAPRGR
SSSRGRGRGR GECGFYQRSF DEVEGVFGRG GGREMHRSQS WEERGDRRFE KPGRKDVGKK
NGYYCMYSPV LLLGQPLCQG RPNFEEGGPT SVGRKHEFIR SESENWRIFR EEQNGEDEDG
GWRLAGSRRD GERWRPHSPD GPRSAGWREH MERRRRFEFD FRDRDDERGY RRVRSGSGSI
DDDRDSLPEW CLEDAEEEMG TFDSSGAFLS LKKVQKEPIP EEQEMDFRPV DEGEECSDSE
GSHNEEAKEP DKTNKKEGEK TDRVGVEASE ETPQTSSSSA RPGTPSDHQS QEASQFERKD
EPKTEQTEKA EEETRMENSL PAKVPSRGDE MVADVQQPLS QIPSDTASPL LILPPPVPNP
SPTLRPVETP VVGAPGMGSV STEPDDEEGL KHLEQQAEKM VAYLQDSALD DERLASKLQE
HRAKGVSIPL MHEAMQKWYY KDPQGEIQGP FNNQEMAEWF QAGYFTMSLL VKRACDESFQ
PLGDIMKMWG RVPFSPGPAP PPHMGELEQE RLTRQQELTA LYQMQHLQYQ QFLIQQQYAQ
VLAQQQKAAL SSQQQQQLAL LLQQFQTLKM RISDQNIIPS VTRSVSVPDT GSIWELQPTA
SQPTVWEGGS VWDLPLDTTT PGPALEQLQQ LEKAKAAKLE QERREAEMRA KREEEERKRQ
EELRRQQEEI LRRQQEEERK RREEEELARR KQEEALRRQR EQEIALRRQR EEEERQQQEE
ALRRLEERRR EEEERRKQEE LLRKQEEEAA KWAREEEEAQ RRLEENRLRM EEEAARLRHE
EEERKRKELE VQRQKELMRQ RQQQQEALRR LQQQQQQQQL AQMKLPSSST WGQQSNTTAC
QSQATLSLAE IQKLEEERER QLREEQRRQQ RELMKALQQQ QQQQQQKLSG WGNVSKPSGT
TKSLLEIQQE EARQMQKQQQ QQQQHQQPNR ARNNTHSNLH TSIGNSVWGS INTGPPNQWA
SDLVSSIWSN ADTKNSNMGF WDDAVKEVGP RNSTNKNKNN ASLSKSVGVS NRQNKKVEEE
EKLLKLFQGV NKAQDGFTQW CEQMLHALNT ANNLDVPTFV SFLKEVESPY EVHDYIRAYL
GDTSEAKEFA KQFLERRAKQ KANQQRQQQQ LPQQQQQQPP QQPPQQPQQQ DSVWGMNHST
LHSVFQTNQS NNQQSNFEAV QSGKKKKKQK MVRADPSLLG FSVNASSERL NMGEIETLDD
Y*

speed

1.09 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999942217744155 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM081291)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:233674441C>GN/A show variant in all transcripts IGV

HGNC symbol

GIGYF2

Ensembl transcript ID

ENST00000373563

Genbank transcript ID

N/A

UniProt peptide

Q6Y7W6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1818C>G
cDNA.2013C>G
g.112433C>G

AA changes

D606E Score: 45 explain score(s)

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

606

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.92	1
	1.397	1
(flanking)	5.942	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	112430	wt: 0.4044 / mu: 0.4218 (marginal change - not scored)	wt: GAGCTGGACCAGGAA mu: GAGCTGGAGCAGGAA	GCTG\|gacc
Donor gained	112427	0.55	mu: GGAGAGCTGGAGCAG	AGAG\|ctgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

606

mutated

all conserved

606

Ptroglodytes

all identical

ENSPTRG00000028976

627

Mmulatta

all identical

ENSMMUG00000012211

641

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000048000

607

Ggallus

all identical

ENSGALG00000001482

286

Trubripes

all identical

ENSTRUG00000008935

626

Drerio

all identical

ENSDARG00000009735

629

Dmelanogaster

not conserved

FBgn0039936

639

NIP

Celegans

all conserved

C18H9.3

450

Xtropicalis

all conserved

ENSXETG00000013890

545

protein features

start (aa)	end (aa)	feature	details
607	1025	COMPBIAS	Gln-rich.	might get lost (downstream of altered splice site)
738	888	COMPBIAS	Glu-rich.	might get lost (downstream of altered splice site)
792	792	CONFLICT	E -> G (in Ref. 5; CAD98095).	might get lost (downstream of altered splice site)
1153	1153	CONFLICT	D -> G (in Ref. 5; CAD98095).	might get lost (downstream of altered splice site)
1198	1252	COMPBIAS	Gln-rich.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3900 / 3900

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

1300 / 1300

position of stopcodon in wt / mu cDNA

4095 / 4095

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

196 / 196

chromosome

strand

last intron/exon boundary

4028

theoretical NMD boundary in CDS

3782

length of CDS

3900

coding sequence (CDS) position

1818

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

2013

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

112433

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

233674441

original gDNA sequence snippet

CATTCCTAGGGAGAGCTGGACCAGGAACGACTGACCAGGCA

altered gDNA sequence snippet

CATTCCTAGGGAGAGCTGGAGCAGGAACGACTGACCAGGCA

original cDNA sequence snippet

CCTCATATGGGAGAGCTGGACCAGGAACGACTGACCAGGCA

altered cDNA sequence snippet

CCTCATATGGGAGAGCTGGAGCAGGAACGACTGACCAGGCA

wildtype AA sequence

MAAETQTLNF GPEWLRALSS GGSITSPPLS PALPKYKLAD YRYGREEMLA LFLKDNKIPS
DLLDKEFLPI LQEEPLPPLA LVPFTEEEQR NFSMSVNSAA VLRLTGRGGG GTVVGAPRGR
SSSRGRGRGR GECGFYQRSF DEVEGVFGRG GGREMHRSQS WEERGDRRFE KPGRKDVGRP
NFEEGGPTSV GRKHEFIRSE SENWRIFREE QNGEDEDGGW RLAGSRRDGE RWRPHSPDGP
RSAGWREHME RRRRFEFDFR DRDDERGYRR VRSGSGSIDD DRDSLPEWCL EDAEEEMGTF
DSSGAFLSLK KVQKEPIPEE QEMDFRPVDE GEECSDSEGS HNEEAKEPDK TNKKEGEKTD
RVGVEASEET PQTSSSSARP GTPSDHQSQE ASQFERKDEP KTEQTEKAEE ETRMENSLPA
KVPSRGDEMV ADVQQPLSQI PSDTASPLLI LPPPVPNPSP TLRPVETPVV GAPGMGSVST
EPDDEEGLKH LEQQAEKMVA YLQDSALDDE RLASKLQEHR AKGVSIPLMH EAMQKWYYKD
PQGEIQGPFN NQEMAEWFQA GYFTMSLLVK RACDESFQPL GDIMKMWGRV PFSPGPAPPP
HMGELDQERL TRQQELTALY QMQHLQYQQF LIQQQYAQVL AQQQKAALSS QQQQQLALLL
QQFQTLKMRI SDQNIIPSVT RSVSVPDTGS IWELQPTASQ PTVWEGGSVW DLPLDTTTPG
PALEQLQQLE KAKAAKLEQE RREAEMRAKR EEEERKRQEE LRRQQEEILR RQQEEERKRR
EEEELARRKQ EEALRRQREQ EIALRRQREE EERQQQEEAL RRLEERRREE EERRKQEELL
RKQEEEAAKW AREEEEAQRR LEENRLRMEE EAARLRHEEE ERKRKELEVQ RQKELMRQRQ
QQQEALRRLQ QQQQQQQLAQ MKLPSSSTWG QQSNTTACQS QATLSLAEIQ KLEEERERQL
REEQRRQQRE LMKALQQQQQ QQQQKLSGWG NVSKPSGTTK SLLEIQQEEA RQMQKQQQQQ
QQHQQPNRAR NNTHSNLHTS IGNSVWGSIN TGPPNQWASD LVSSIWSNAD TKNSNMGFWD
DAVKEVGPRN STNKNKNNAS LSKSVGVSNR QNKKVEEEEK LLKLFQGVNK AQDGFTQWCE
QMLHALNTAN NLDVPTFVSF LKEVESPYEV HDYIRAYLGD TSEAKEFAKQ FLERRAKQKA
NQQRQQQQLP QQQQQQPPQQ PPQQPQQQDS VWGMNHSTLH SVFQTNQSNN QQSNFEAVQS
GKKKKKQKMV RADPSLLGFS VNASSERLNM GEIETLDDY*

mutated AA sequence

MAAETQTLNF GPEWLRALSS GGSITSPPLS PALPKYKLAD YRYGREEMLA LFLKDNKIPS
DLLDKEFLPI LQEEPLPPLA LVPFTEEEQR NFSMSVNSAA VLRLTGRGGG GTVVGAPRGR
SSSRGRGRGR GECGFYQRSF DEVEGVFGRG GGREMHRSQS WEERGDRRFE KPGRKDVGRP
NFEEGGPTSV GRKHEFIRSE SENWRIFREE QNGEDEDGGW RLAGSRRDGE RWRPHSPDGP
RSAGWREHME RRRRFEFDFR DRDDERGYRR VRSGSGSIDD DRDSLPEWCL EDAEEEMGTF
DSSGAFLSLK KVQKEPIPEE QEMDFRPVDE GEECSDSEGS HNEEAKEPDK TNKKEGEKTD
RVGVEASEET PQTSSSSARP GTPSDHQSQE ASQFERKDEP KTEQTEKAEE ETRMENSLPA
KVPSRGDEMV ADVQQPLSQI PSDTASPLLI LPPPVPNPSP TLRPVETPVV GAPGMGSVST
EPDDEEGLKH LEQQAEKMVA YLQDSALDDE RLASKLQEHR AKGVSIPLMH EAMQKWYYKD
PQGEIQGPFN NQEMAEWFQA GYFTMSLLVK RACDESFQPL GDIMKMWGRV PFSPGPAPPP
HMGELEQERL TRQQELTALY QMQHLQYQQF LIQQQYAQVL AQQQKAALSS QQQQQLALLL
QQFQTLKMRI SDQNIIPSVT RSVSVPDTGS IWELQPTASQ PTVWEGGSVW DLPLDTTTPG
PALEQLQQLE KAKAAKLEQE RREAEMRAKR EEEERKRQEE LRRQQEEILR RQQEEERKRR
EEEELARRKQ EEALRRQREQ EIALRRQREE EERQQQEEAL RRLEERRREE EERRKQEELL
RKQEEEAAKW AREEEEAQRR LEENRLRMEE EAARLRHEEE ERKRKELEVQ RQKELMRQRQ
QQQEALRRLQ QQQQQQQLAQ MKLPSSSTWG QQSNTTACQS QATLSLAEIQ KLEEERERQL
REEQRRQQRE LMKALQQQQQ QQQQKLSGWG NVSKPSGTTK SLLEIQQEEA RQMQKQQQQQ
QQHQQPNRAR NNTHSNLHTS IGNSVWGSIN TGPPNQWASD LVSSIWSNAD TKNSNMGFWD
DAVKEVGPRN STNKNKNNAS LSKSVGVSNR QNKKVEEEEK LLKLFQGVNK AQDGFTQWCE
QMLHALNTAN NLDVPTFVSF LKEVESPYEV HDYIRAYLGD TSEAKEFAKQ FLERRAKQKA
NQQRQQQQLP QQQQQQPPQQ PPQQPQQQDS VWGMNHSTLH SVFQTNQSNN QQSNFEAVQS
GKKKKKQKMV RADPSLLGFS VNASSERLNM GEIETLDDY*

speed

1.15 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999942217744155 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM081291)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:233674441C>GN/A show variant in all transcripts IGV

HGNC symbol

GIGYF2

Ensembl transcript ID

ENST00000409547

Genbank transcript ID

N/A

UniProt peptide

Q6Y7W6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1818C>G
cDNA.2129C>G
g.112433C>G

AA changes

D606E Score: 45 explain score(s)

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

606

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.92	1
	1.397	1
(flanking)	5.942	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	112430	wt: 0.4044 / mu: 0.4218 (marginal change - not scored)	wt: GAGCTGGACCAGGAA mu: GAGCTGGAGCAGGAA	GCTG\|gacc
Donor gained	112427	0.55	mu: GGAGAGCTGGAGCAG	AGAG\|ctgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

606

mutated

all conserved

606

Ptroglodytes

all identical

ENSPTRG00000028976

627

Mmulatta

all identical

ENSMMUG00000012211

641

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000048000

607

Ggallus

all identical

ENSGALG00000001482

286

Trubripes

all identical

ENSTRUG00000008935

626

Drerio

all identical

ENSDARG00000009735

629

Dmelanogaster

not conserved

FBgn0039936

639

NIP

Celegans

all conserved

C18H9.3

450

Xtropicalis

all conserved

ENSXETG00000013890

545

protein features

start (aa)	end (aa)	feature	details
607	1025	COMPBIAS	Gln-rich.	might get lost (downstream of altered splice site)
738	888	COMPBIAS	Glu-rich.	might get lost (downstream of altered splice site)
792	792	CONFLICT	E -> G (in Ref. 5; CAD98095).	might get lost (downstream of altered splice site)
1153	1153	CONFLICT	D -> G (in Ref. 5; CAD98095).	might get lost (downstream of altered splice site)
1198	1252	COMPBIAS	Gln-rich.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3900 / 3900

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

1300 / 1300

position of stopcodon in wt / mu cDNA

4211 / 4211

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

312 / 312

chromosome

strand

last intron/exon boundary

4144

theoretical NMD boundary in CDS

3782

length of CDS

3900

coding sequence (CDS) position

1818

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

2129

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

112433

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

233674441

original gDNA sequence snippet

CATTCCTAGGGAGAGCTGGACCAGGAACGACTGACCAGGCA

altered gDNA sequence snippet

CATTCCTAGGGAGAGCTGGAGCAGGAACGACTGACCAGGCA

original cDNA sequence snippet

CCTCATATGGGAGAGCTGGACCAGGAACGACTGACCAGGCA

altered cDNA sequence snippet

CCTCATATGGGAGAGCTGGAGCAGGAACGACTGACCAGGCA

wildtype AA sequence

MAAETQTLNF GPEWLRALSS GGSITSPPLS PALPKYKLAD YRYGREEMLA LFLKDNKIPS
DLLDKEFLPI LQEEPLPPLA LVPFTEEEQR NFSMSVNSAA VLRLTGRGGG GTVVGAPRGR
SSSRGRGRGR GECGFYQRSF DEVEGVFGRG GGREMHRSQS WEERGDRRFE KPGRKDVGRP
NFEEGGPTSV GRKHEFIRSE SENWRIFREE QNGEDEDGGW RLAGSRRDGE RWRPHSPDGP
RSAGWREHME RRRRFEFDFR DRDDERGYRR VRSGSGSIDD DRDSLPEWCL EDAEEEMGTF
DSSGAFLSLK KVQKEPIPEE QEMDFRPVDE GEECSDSEGS HNEEAKEPDK TNKKEGEKTD
RVGVEASEET PQTSSSSARP GTPSDHQSQE ASQFERKDEP KTEQTEKAEE ETRMENSLPA
KVPSRGDEMV ADVQQPLSQI PSDTASPLLI LPPPVPNPSP TLRPVETPVV GAPGMGSVST
EPDDEEGLKH LEQQAEKMVA YLQDSALDDE RLASKLQEHR AKGVSIPLMH EAMQKWYYKD
PQGEIQGPFN NQEMAEWFQA GYFTMSLLVK RACDESFQPL GDIMKMWGRV PFSPGPAPPP
HMGELDQERL TRQQELTALY QMQHLQYQQF LIQQQYAQVL AQQQKAALSS QQQQQLALLL
QQFQTLKMRI SDQNIIPSVT RSVSVPDTGS IWELQPTASQ PTVWEGGSVW DLPLDTTTPG
PALEQLQQLE KAKAAKLEQE RREAEMRAKR EEEERKRQEE LRRQQEEILR RQQEEERKRR
EEEELARRKQ EEALRRQREQ EIALRRQREE EERQQQEEAL RRLEERRREE EERRKQEELL
RKQEEEAAKW AREEEEAQRR LEENRLRMEE EAARLRHEEE ERKRKELEVQ RQKELMRQRQ
QQQEALRRLQ QQQQQQQLAQ MKLPSSSTWG QQSNTTACQS QATLSLAEIQ KLEEERERQL
REEQRRQQRE LMKALQQQQQ QQQQKLSGWG NVSKPSGTTK SLLEIQQEEA RQMQKQQQQQ
QQHQQPNRAR NNTHSNLHTS IGNSVWGSIN TGPPNQWASD LVSSIWSNAD TKNSNMGFWD
DAVKEVGPRN STNKNKNNAS LSKSVGVSNR QNKKVEEEEK LLKLFQGVNK AQDGFTQWCE
QMLHALNTAN NLDVPTFVSF LKEVESPYEV HDYIRAYLGD TSEAKEFAKQ FLERRAKQKA
NQQRQQQQLP QQQQQQPPQQ PPQQPQQQDS VWGMNHSTLH SVFQTNQSNN QQSNFEAVQS
GKKKKKQKMV RADPSLLGFS VNASSERLNM GEIETLDDY*

mutated AA sequence

MAAETQTLNF GPEWLRALSS GGSITSPPLS PALPKYKLAD YRYGREEMLA LFLKDNKIPS
DLLDKEFLPI LQEEPLPPLA LVPFTEEEQR NFSMSVNSAA VLRLTGRGGG GTVVGAPRGR
SSSRGRGRGR GECGFYQRSF DEVEGVFGRG GGREMHRSQS WEERGDRRFE KPGRKDVGRP
NFEEGGPTSV GRKHEFIRSE SENWRIFREE QNGEDEDGGW RLAGSRRDGE RWRPHSPDGP
RSAGWREHME RRRRFEFDFR DRDDERGYRR VRSGSGSIDD DRDSLPEWCL EDAEEEMGTF
DSSGAFLSLK KVQKEPIPEE QEMDFRPVDE GEECSDSEGS HNEEAKEPDK TNKKEGEKTD
RVGVEASEET PQTSSSSARP GTPSDHQSQE ASQFERKDEP KTEQTEKAEE ETRMENSLPA
KVPSRGDEMV ADVQQPLSQI PSDTASPLLI LPPPVPNPSP TLRPVETPVV GAPGMGSVST
EPDDEEGLKH LEQQAEKMVA YLQDSALDDE RLASKLQEHR AKGVSIPLMH EAMQKWYYKD
PQGEIQGPFN NQEMAEWFQA GYFTMSLLVK RACDESFQPL GDIMKMWGRV PFSPGPAPPP
HMGELEQERL TRQQELTALY QMQHLQYQQF LIQQQYAQVL AQQQKAALSS QQQQQLALLL
QQFQTLKMRI SDQNIIPSVT RSVSVPDTGS IWELQPTASQ PTVWEGGSVW DLPLDTTTPG
PALEQLQQLE KAKAAKLEQE RREAEMRAKR EEEERKRQEE LRRQQEEILR RQQEEERKRR
EEEELARRKQ EEALRRQREQ EIALRRQREE EERQQQEEAL RRLEERRREE EERRKQEELL
RKQEEEAAKW AREEEEAQRR LEENRLRMEE EAARLRHEEE ERKRKELEVQ RQKELMRQRQ
QQQEALRRLQ QQQQQQQLAQ MKLPSSSTWG QQSNTTACQS QATLSLAEIQ KLEEERERQL
REEQRRQQRE LMKALQQQQQ QQQQKLSGWG NVSKPSGTTK SLLEIQQEEA RQMQKQQQQQ
QQHQQPNRAR NNTHSNLHTS IGNSVWGSIN TGPPNQWASD LVSSIWSNAD TKNSNMGFWD
DAVKEVGPRN STNKNKNNAS LSKSVGVSNR QNKKVEEEEK LLKLFQGVNK AQDGFTQWCE
QMLHALNTAN NLDVPTFVSF LKEVESPYEV HDYIRAYLGD TSEAKEFAKQ FLERRAKQKA
NQQRQQQQLP QQQQQQPPQQ PPQQPQQQDS VWGMNHSTLH SVFQTNQSNN QQSNFEAVQS
GKKKKKQKMV RADPSLLGFS VNASSERLNM GEIETLDDY*

speed

1.14 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999942217744155 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM081291)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:233674441C>GN/A show variant in all transcripts IGV

HGNC symbol

GIGYF2

Ensembl transcript ID

ENST00000409196

Genbank transcript ID

NM_001103148

UniProt peptide

Q6Y7W6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1800C>G
cDNA.1898C>G
g.112433C>G

AA changes

D600E Score: 45 explain score(s)

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

600

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.92	1
	1.397	1
(flanking)	5.942	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	112430	wt: 0.4044 / mu: 0.4218 (marginal change - not scored)	wt: GAGCTGGACCAGGAA mu: GAGCTGGAGCAGGAA	GCTG\|gacc
Donor gained	112427	0.55	mu: GGAGAGCTGGAGCAG	AGAG\|ctgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

600

mutated

all conserved

600

Ptroglodytes

all identical

ENSPTRG00000028976

627

Mmulatta

all identical

ENSMMUG00000012211

641

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000048000

607

Ggallus

all identical

ENSGALG00000001482

286

Trubripes

all identical

ENSTRUG00000008935

626

Drerio

all identical

ENSDARG00000009735

629

Dmelanogaster

not conserved

FBgn0039936

639

NIP

Celegans

all conserved

C18H9.3

450

Xtropicalis

all conserved

ENSXETG00000013890

545

protein features

start (aa)	end (aa)	feature	details
607	1025	COMPBIAS	Gln-rich.	might get lost (downstream of altered splice site)
738	888	COMPBIAS	Glu-rich.	might get lost (downstream of altered splice site)
792	792	CONFLICT	E -> G (in Ref. 5; CAD98095).	might get lost (downstream of altered splice site)
1153	1153	CONFLICT	D -> G (in Ref. 5; CAD98095).	might get lost (downstream of altered splice site)
1198	1252	COMPBIAS	Gln-rich.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3882 / 3882

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

1294 / 1294

position of stopcodon in wt / mu cDNA

3980 / 3980

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

99 / 99

chromosome

strand

last intron/exon boundary

3913

theoretical NMD boundary in CDS

3764

length of CDS

3882

coding sequence (CDS) position

1800

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

1898

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

112433

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

233674441

original gDNA sequence snippet

CATTCCTAGGGAGAGCTGGACCAGGAACGACTGACCAGGCA

altered gDNA sequence snippet

CATTCCTAGGGAGAGCTGGAGCAGGAACGACTGACCAGGCA

original cDNA sequence snippet

CCTCATATGGGAGAGCTGGACCAGGAACGACTGACCAGGCA

altered cDNA sequence snippet

CCTCATATGGGAGAGCTGGAGCAGGAACGACTGACCAGGCA

wildtype AA sequence

MAAETQTLNF GPEWLRALSS GGSITSPPLS PALPKYKLAD YRYGREEMLA LFLKDNKIPS
DLLDKEFLPI LQEEPLPPLA LVPFTEEEQR NFSMSVNSAA VLRLTGRGGG GTVVGAPRGR
SSSRGRGRGR GECGFYQRSF DEVEGVFGRG GGREMHRSQS WEERGDRRFE KPGRKDVGRP
NFEEGGPTSV GRKHEFIRSE SENWRIFREE QNGEDEDGGW RLAGSRRDGE RWRPHSPGWR
EHMERRRRFE FDFRDRDDER GYRRVRSGSG SIDDDRDSLP EWCLEDAEEE MGTFDSSGAF
LSLKKVQKEP IPEEQEMDFR PVDEGEECSD SEGSHNEEAK EPDKTNKKEG EKTDRVGVEA
SEETPQTSSS SARPGTPSDH QSQEASQFER KDEPKTEQTE KAEEETRMEN SLPAKVPSRG
DEMVADVQQP LSQIPSDTAS PLLILPPPVP NPSPTLRPVE TPVVGAPGMG SVSTEPDDEE
GLKHLEQQAE KMVAYLQDSA LDDERLASKL QEHRAKGVSI PLMHEAMQKW YYKDPQGEIQ
GPFNNQEMAE WFQAGYFTMS LLVKRACDES FQPLGDIMKM WGRVPFSPGP APPPHMGELD
QERLTRQQEL TALYQMQHLQ YQQFLIQQQY AQVLAQQQKA ALSSQQQQQL ALLLQQFQTL
KMRISDQNII PSVTRSVSVP DTGSIWELQP TASQPTVWEG GSVWDLPLDT TTPGPALEQL
QQLEKAKAAK LEQERREAEM RAKREEEERK RQEELRRQQE EILRRQQEEE RKRREEEELA
RRKQEEALRR QREQEIALRR QREEEERQQQ EEALRRLEER RREEEERRKQ EELLRKQEEE
AAKWAREEEE AQRRLEENRL RMEEEAARLR HEEEERKRKE LEVQRQKELM RQRQQQQEAL
RRLQQQQQQQ QLAQMKLPSS STWGQQSNTT ACQSQATLSL AEIQKLEEER ERQLREEQRR
QQRELMKALQ QQQQQQQQKL SGWGNVSKPS GTTKSLLEIQ QEEARQMQKQ QQQQQQHQQP
NRARNNTHSN LHTSIGNSVW GSINTGPPNQ WASDLVSSIW SNADTKNSNM GFWDDAVKEV
GPRNSTNKNK NNASLSKSVG VSNRQNKKVE EEEKLLKLFQ GVNKAQDGFT QWCEQMLHAL
NTANNLDVPT FVSFLKEVES PYEVHDYIRA YLGDTSEAKE FAKQFLERRA KQKANQQRQQ
QQLPQQQQQQ PPQQPPQQPQ QQDSVWGMNH STLHSVFQTN QSNNQQSNFE AVQSGKKKKK
QKMVRADPSL LGFSVNASSE RLNMGEIETL DDY*

mutated AA sequence

MAAETQTLNF GPEWLRALSS GGSITSPPLS PALPKYKLAD YRYGREEMLA LFLKDNKIPS
DLLDKEFLPI LQEEPLPPLA LVPFTEEEQR NFSMSVNSAA VLRLTGRGGG GTVVGAPRGR
SSSRGRGRGR GECGFYQRSF DEVEGVFGRG GGREMHRSQS WEERGDRRFE KPGRKDVGRP
NFEEGGPTSV GRKHEFIRSE SENWRIFREE QNGEDEDGGW RLAGSRRDGE RWRPHSPGWR
EHMERRRRFE FDFRDRDDER GYRRVRSGSG SIDDDRDSLP EWCLEDAEEE MGTFDSSGAF
LSLKKVQKEP IPEEQEMDFR PVDEGEECSD SEGSHNEEAK EPDKTNKKEG EKTDRVGVEA
SEETPQTSSS SARPGTPSDH QSQEASQFER KDEPKTEQTE KAEEETRMEN SLPAKVPSRG
DEMVADVQQP LSQIPSDTAS PLLILPPPVP NPSPTLRPVE TPVVGAPGMG SVSTEPDDEE
GLKHLEQQAE KMVAYLQDSA LDDERLASKL QEHRAKGVSI PLMHEAMQKW YYKDPQGEIQ
GPFNNQEMAE WFQAGYFTMS LLVKRACDES FQPLGDIMKM WGRVPFSPGP APPPHMGELE
QERLTRQQEL TALYQMQHLQ YQQFLIQQQY AQVLAQQQKA ALSSQQQQQL ALLLQQFQTL
KMRISDQNII PSVTRSVSVP DTGSIWELQP TASQPTVWEG GSVWDLPLDT TTPGPALEQL
QQLEKAKAAK LEQERREAEM RAKREEEERK RQEELRRQQE EILRRQQEEE RKRREEEELA
RRKQEEALRR QREQEIALRR QREEEERQQQ EEALRRLEER RREEEERRKQ EELLRKQEEE
AAKWAREEEE AQRRLEENRL RMEEEAARLR HEEEERKRKE LEVQRQKELM RQRQQQQEAL
RRLQQQQQQQ QLAQMKLPSS STWGQQSNTT ACQSQATLSL AEIQKLEEER ERQLREEQRR
QQRELMKALQ QQQQQQQQKL SGWGNVSKPS GTTKSLLEIQ QEEARQMQKQ QQQQQQHQQP
NRARNNTHSN LHTSIGNSVW GSINTGPPNQ WASDLVSSIW SNADTKNSNM GFWDDAVKEV
GPRNSTNKNK NNASLSKSVG VSNRQNKKVE EEEKLLKLFQ GVNKAQDGFT QWCEQMLHAL
NTANNLDVPT FVSFLKEVES PYEVHDYIRA YLGDTSEAKE FAKQFLERRA KQKANQQRQQ
QQLPQQQQQQ PPQQPPQQPQ QQDSVWGMNH STLHSVFQTN QSNNQQSNFE AVQSGKKKKK
QKMVRADPSL LGFSVNASSE RLNMGEIETL DDY*

speed

1.06 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems