MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 11 transcript(s)...
Querying Taster for transcript #1: ENST00000358487
Querying Taster for transcript #2: ENST00000356226
Querying Taster for transcript #3: ENST00000369060
Querying Taster for transcript #4: ENST00000369059
Querying Taster for transcript #5: ENST00000346997
Querying Taster for transcript #6: ENST00000457416
Querying Taster for transcript #7: ENST00000360144
Querying Taster for transcript #8: ENST00000369056
Querying Taster for transcript #9: ENST00000357555
Querying Taster for transcript #10: ENST00000369061
Querying Taster for transcript #11: ENST00000351936
MT speed 0 s - this script 6.484799 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
FGFR2	disease_causing_automatic	0.999999985562699	simple_aae			0	S265C	single base exchange	rs121918490		show file
FGFR2	disease_causing_automatic	0.999999995733919	simple_aae			0	S354C	single base exchange	rs121918490		show file
FGFR2	disease_causing_automatic	0.999999995733919	simple_aae			0	S239C	single base exchange	rs121918490		show file
FGFR2	disease_causing_automatic	0.999999995733919	simple_aae			0	S354C	single base exchange	rs121918490		show file
FGFR2	disease_causing_automatic	0.999999995733919	simple_aae			0	S354C	single base exchange	rs121918490		show file
FGFR2	disease_causing_automatic	1	without_aae			0		single base exchange	rs121918490		show file
FGFR2	disease_causing_automatic	1	without_aae			0		single base exchange	rs121918490		show file
FGFR2	disease_causing_automatic	1	without_aae			0		single base exchange	rs121918490		show file
FGFR2	disease_causing_automatic	1	without_aae			0		single base exchange	rs121918490		show file
FGFR2	disease_causing_automatic	1	without_aae			0		single base exchange	rs121918490		show file
FGFR2	disease_causing_automatic	1	without_aae			0		single base exchange	rs121918490		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999985562699 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM003315)
known disease mutation at this position (HGMD CM060999)
known disease mutation at this position (HGMD CM940784)
known disease mutation: rs13265 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:123276856G>CN/A show variant in all transcripts IGV

HGNC symbol

FGFR2

Ensembl transcript ID

ENST00000357555

Genbank transcript ID

NM_001144915

UniProt peptide

P21802

alteration type

single base exchange

alteration region

CDS

DNA changes

c.794C>G
cDNA.1113C>G
g.81117C>G

AA changes

S265C Score: 112 explain score(s)

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

265

frameshift

known variant

Reference ID: rs121918490
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs13265 (pathogenic for Crouzon syndrome|Inborn genetic diseases|FGFR2 related craniosynostosis) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940784)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940784)
known disease mutation at this position, please check HGMD for details (HGMD ID CM003315)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940784)
known disease mutation at this position, please check HGMD for details (HGMD ID CM003315)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060999)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940784)
known disease mutation at this position, please check HGMD for details (HGMD ID CM003315)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060999)
known disease mutation at this position, please check HGMD for details (HGMD ID CM003315)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940784)
known disease mutation at this position, please check HGMD for details (HGMD ID CM003315)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060999)
known disease mutation at this position, please check HGMD for details (HGMD ID CM003315)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060999)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940784)
known disease mutation at this position, please check HGMD for details (HGMD ID CM003315)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060999)
known disease mutation at this position, please check HGMD for details (HGMD ID CM003315)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060999)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940784)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.592	1
	6.268	1
(flanking)	1.633	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

265

mutated

not conserved

265

Ptroglodytes

all identical

ENSPTRG00000003003

354

PKQQ

Mmulatta

all identical

ENSMMUG00000009594

201

PKQQ

Fcatus

no alignment

ENSFCAG00000003692

n/a

Mmusculus

all identical

ENSMUSG00000030849

373

Ggallus

all conserved

ENSGALG00000009495

361

Trubripes

all identical

ENSTRUG00000017610

354

Drerio

all conserved

ENSDARG00000058115

377

Dmelanogaster

all conserved

FBgn0010389

289

Celegans

all conserved

F58A3.2

497

EFMAIHL

Xtropicalis

all identical

ENSXETG00000015592

366

protein features

start (aa)	end (aa)	feature	details
22	377	TOPO_DOM	Extracellular (Potential).	lost
256	358	DOMAIN	Ig-like C2-type 3.	lost
265	265	CARBOHYD	N-linked (GlcNAc...) (Potential).	lost
265	265	MUTAGEN	N->Q: Reduced N-glycosylation. Reduced expression at the cell surface.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2124 / 2124

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

708 / 708

position of stopcodon in wt / mu cDNA

2443 / 2443

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

320 / 320

chromosome

strand

-1

last intron/exon boundary

2354

theoretical NMD boundary in CDS

1984

length of CDS

2124

coding sequence (CDS) position

794

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

1113

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

81117

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

123276856

original gDNA sequence snippet

TATTGGGATATCCTTTCACTCTGCATGGTTGACAGTTCTGC

altered gDNA sequence snippet

TATTGGGATATCCTTTCACTGTGCATGGTTGACAGTTCTGC

original cDNA sequence snippet

TATTGGGATATCCTTTCACTCTGCATGGTTGACAGTTCTGC

altered cDNA sequence snippet

TATTGGGATATCCTTTCACTGTGCATGGTTGACAGTTCTGC

wildtype AA sequence

MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEDAIS SGDDEDDTDG AEDFVSENSN
NKRAPYWTNT EKMEKRLHAV PAANTVKFRC PAGGNPMPTM RWLKNGKEFK QEHRIGGYKV
RNQHWSLIME SVVPSDKGNY TCVVENEYGS INHTYHLDVV ERSPHRPILQ AGLPANASTV
VGGDVEFVCK VYSDAQPHIQ WIKHVEKNGS KYGPDGLPYL KVLKAAGVNT TDKEIEVLYI
RNVTFEDAGE YTCLAGNSIG ISFHSAWLTV LPAPGREKEI TASPDYLEIA IYCIGVFLIA
CMVVTVILCR MKNTTKKPDF SSQPAVHKLT KRIPLRRQVT VSAESSSSMN SNTPLVRITT
RLSSTADTPM LAGVSEYELP EDPKWEFPRD KLTLGKPLGE GCFGQVVMAE AVGIDKDKPK
EAVTVAVKML KDDATEKDLS DLVSEMEMMK MIGKHKNIIN LLGACTQDGP LYVIVEYASK
GNLREYLRAR RPPGMEYSYD INRVPEEQMT FKDLVSCTYQ LARGMEYLAS QKCIHRDLAA
RNVLVTENNV MKIADFGLAR DINNIDYYKK TTNGRLPVKW MAPEALFDRV YTHQSDVWSF
GVLMWEIFTL GGSPYPGIPV EELFKLLKEG HRMDKPANCT NELYMMMRDC WHAVPSQRPT
FKQLVEDLDR ILTLTTNEEE KKVSGAVDCH KPPCNPSHLP CVLAVDQ*

mutated AA sequence

MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEDAIS SGDDEDDTDG AEDFVSENSN
NKRAPYWTNT EKMEKRLHAV PAANTVKFRC PAGGNPMPTM RWLKNGKEFK QEHRIGGYKV
RNQHWSLIME SVVPSDKGNY TCVVENEYGS INHTYHLDVV ERSPHRPILQ AGLPANASTV
VGGDVEFVCK VYSDAQPHIQ WIKHVEKNGS KYGPDGLPYL KVLKAAGVNT TDKEIEVLYI
RNVTFEDAGE YTCLAGNSIG ISFHCAWLTV LPAPGREKEI TASPDYLEIA IYCIGVFLIA
CMVVTVILCR MKNTTKKPDF SSQPAVHKLT KRIPLRRQVT VSAESSSSMN SNTPLVRITT
RLSSTADTPM LAGVSEYELP EDPKWEFPRD KLTLGKPLGE GCFGQVVMAE AVGIDKDKPK
EAVTVAVKML KDDATEKDLS DLVSEMEMMK MIGKHKNIIN LLGACTQDGP LYVIVEYASK
GNLREYLRAR RPPGMEYSYD INRVPEEQMT FKDLVSCTYQ LARGMEYLAS QKCIHRDLAA
RNVLVTENNV MKIADFGLAR DINNIDYYKK TTNGRLPVKW MAPEALFDRV YTHQSDVWSF
GVLMWEIFTL GGSPYPGIPV EELFKLLKEG HRMDKPANCT NELYMMMRDC WHAVPSQRPT
FKQLVEDLDR ILTLTTNEEE KKVSGAVDCH KPPCNPSHLP CVLAVDQ*

speed

0.71 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: 0.999999995733919 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM003315)
known disease mutation at this position (HGMD CM060999)
known disease mutation at this position (HGMD CM940784)
known disease mutation: rs13265 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:123276856G>CN/A show variant in all transcripts IGV

HGNC symbol

FGFR2

Ensembl transcript ID

ENST00000358487

Genbank transcript ID

NM_000141

UniProt peptide

P21802

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1061C>G
cDNA.1334C>G
g.81117C>G

AA changes

S354C Score: 112 explain score(s)

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

354

frameshift

known variant

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.592	1
	6.268	1
(flanking)	1.633	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

354

mutated

not conserved

354

Ptroglodytes

all identical

ENSPTRG00000003003

354

Mmulatta

all identical

ENSMMUG00000009594

201

PKQQ

Fcatus

no alignment

ENSFCAG00000003692

n/a

Mmusculus

all identical

ENSMUSG00000030849

373

Ggallus

all conserved

ENSGALG00000009495

361

Trubripes

all identical

ENSTRUG00000017610

354

Drerio

all conserved

ENSDARG00000058115

377

Dmelanogaster

all conserved

FBgn0010389

284

Celegans

all conserved

F58A3.2

497

EFMAIHL

Xtropicalis

all identical

ENSXETG00000015592

366

protein features

start (aa)	end (aa)	feature	details
22	377	TOPO_DOM	Extracellular (Potential).	lost
256	358	DOMAIN	Ig-like C2-type 3.	lost
349	360	STRAND		lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2466 / 2466

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

822 / 822

position of stopcodon in wt / mu cDNA

2739 / 2739

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

274 / 274

chromosome

strand

-1

last intron/exon boundary

2575

theoretical NMD boundary in CDS

2251

length of CDS

2466

coding sequence (CDS) position

1061

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

1334

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

81117

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

123276856

original gDNA sequence snippet

TATTGGGATATCCTTTCACTCTGCATGGTTGACAGTTCTGC

altered gDNA sequence snippet

TATTGGGATATCCTTTCACTGTGCATGGTTGACAGTTCTGC

original cDNA sequence snippet

TATTGGGATATCCTTTCACTCTGCATGGTTGACAGTTCTGC

altered cDNA sequence snippet

TATTGGGATATCCTTTCACTGTGCATGGTTGACAGTTCTGC

wildtype AA sequence

MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV
RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF
MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP
AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI
NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK
YGPDGLPYLK VLKAAGVNTT DKEIEVLYIR NVTFEDAGEY TCLAGNSIGI SFHSAWLTVL
PAPGREKEIT ASPDYLEIAI YCIGVFLIAC MVVTVILCRM KNTTKKPDFS SQPAVHKLTK
RIPLRRQVTV SAESSSSMNS NTPLVRITTR LSSTADTPML AGVSEYELPE DPKWEFPRDK
LTLGKPLGEG CFGQVVMAEA VGIDKDKPKE AVTVAVKMLK DDATEKDLSD LVSEMEMMKM
IGKHKNIINL LGACTQDGPL YVIVEYASKG NLREYLRARR PPGMEYSYDI NRVPEEQMTF
KDLVSCTYQL ARGMEYLASQ KCIHRDLAAR NVLVTENNVM KIADFGLARD INNIDYYKKT
TNGRLPVKWM APEALFDRVY THQSDVWSFG VLMWEIFTLG GSPYPGIPVE ELFKLLKEGH
RMDKPANCTN ELYMMMRDCW HAVPSQRPTF KQLVEDLDRI LTLTTNEEYL DLSQPLEQYS
PSYPDTRSSC SSGDDSVFSP DPMPYEPCLP QYPHINGSVK T*

mutated AA sequence

MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV
RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF
MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP
AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI
NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK
YGPDGLPYLK VLKAAGVNTT DKEIEVLYIR NVTFEDAGEY TCLAGNSIGI SFHCAWLTVL
PAPGREKEIT ASPDYLEIAI YCIGVFLIAC MVVTVILCRM KNTTKKPDFS SQPAVHKLTK
RIPLRRQVTV SAESSSSMNS NTPLVRITTR LSSTADTPML AGVSEYELPE DPKWEFPRDK
LTLGKPLGEG CFGQVVMAEA VGIDKDKPKE AVTVAVKMLK DDATEKDLSD LVSEMEMMKM
IGKHKNIINL LGACTQDGPL YVIVEYASKG NLREYLRARR PPGMEYSYDI NRVPEEQMTF
KDLVSCTYQL ARGMEYLASQ KCIHRDLAAR NVLVTENNVM KIADFGLARD INNIDYYKKT
TNGRLPVKWM APEALFDRVY THQSDVWSFG VLMWEIFTLG GSPYPGIPVE ELFKLLKEGH
RMDKPANCTN ELYMMMRDCW HAVPSQRPTF KQLVEDLDRI LTLTTNEEYL DLSQPLEQYS
PSYPDTRSSC SSGDDSVFSP DPMPYEPCLP QYPHINGSVK T*

speed

0.70 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999995733919 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM003315)
known disease mutation at this position (HGMD CM060999)
known disease mutation at this position (HGMD CM940784)
known disease mutation: rs13265 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:123276856G>CN/A show variant in all transcripts IGV

HGNC symbol

FGFR2

Ensembl transcript ID

ENST00000356226

Genbank transcript ID

NM_001144918

UniProt peptide

P21802

alteration type

single base exchange

alteration region

CDS

DNA changes

c.716C>G
cDNA.1363C>G
g.81117C>G

AA changes

S239C Score: 112 explain score(s)

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

239

frameshift

known variant

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.592	1
	6.268	1
(flanking)	1.633	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

239

mutated

not conserved

239

Ptroglodytes

all identical

ENSPTRG00000003003

352

PKQQ

Mmulatta

all identical

ENSMMUG00000009594

201

PKQQ

Fcatus

no alignment

ENSFCAG00000003692

n/a

Mmusculus

all identical

ENSMUSG00000030849

373

Ggallus

all conserved

ENSGALG00000009495

361

Trubripes

all identical

ENSTRUG00000017610

352

Drerio

all conserved

ENSDARG00000058115

377

Dmelanogaster

all conserved

FBgn0010389

285

Celegans

all conserved

F58A3.2

490

EFMAIHL

Xtropicalis

all identical

ENSXETG00000015592

366

protein features

start (aa)	end (aa)	feature	details
22	377	TOPO_DOM	Extracellular (Potential).	lost
154	247	DOMAIN	Ig-like C2-type 2.	lost
238	249	STRAND		lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2115 / 2115

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

705 / 705

position of stopcodon in wt / mu cDNA

2762 / 2762

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

648 / 648

chromosome

strand

-1

last intron/exon boundary

2598

theoretical NMD boundary in CDS

1900

length of CDS

2115

coding sequence (CDS) position

716

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

1363

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

81117

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

123276856

original gDNA sequence snippet

TATTGGGATATCCTTTCACTCTGCATGGTTGACAGTTCTGC

altered gDNA sequence snippet

TATTGGGATATCCTTTCACTGTGCATGGTTGACAGTTCTGC

original cDNA sequence snippet

TATTGGGATATCCTTTCACTCTGCATGGTTGACAGTTCTGC

altered cDNA sequence snippet

TATTGGGATATCCTTTCACTGTGCATGGTTGACAGTTCTGC

wildtype AA sequence

MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEGAPY WTNTEKMEKR LHAVPAANTV
KFRCPAGGNP MPTMRWLKNG KEFKQEHRIG GYKVRNQHWS LIMESVVPSD KGNYTCVVEN
EYGSINHTYH LDVVERSPHR PILQAGLPAN ASTVVGGDVE FVCKVYSDAQ PHIQWIKHVE
KNGSKYGPDG LPYLKVLKAA GVNTTDKEIE VLYIRNVTFE DAGEYTCLAG NSIGISFHSA
WLTVLPAPGR EKEITASPDY LEIAIYCIGV FLIACMVVTV ILCRMKNTTK KPDFSSQPAV
HKLTKRIPLR RQVSAESSSS MNSNTPLVRI TTRLSSTADT PMLAGVSEYE LPEDPKWEFP
RDKLTLGKPL GEGCFGQVVM AEAVGIDKDK PKEAVTVAVK MLKDDATEKD LSDLVSEMEM
MKMIGKHKNI INLLGACTQD GPLYVIVEYA SKGNLREYLR ARRPPGMEYS YDINRVPEEQ
MTFKDLVSCT YQLARGMEYL ASQKCIHRDL AARNVLVTEN NVMKIADFGL ARDINNIDYY
KKTTNGRLPV KWMAPEALFD RVYTHQSDVW SFGVLMWEIF TLGGSPYPGI PVEELFKLLK
EGHRMDKPAN CTNELYMMMR DCWHAVPSQR PTFKQLVEDL DRILTLTTNE EYLDLSQPLE
QYSPSYPDTR SSCSSGDDSV FSPDPMPYEP CLPQYPHING SVKT*

mutated AA sequence

MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEGAPY WTNTEKMEKR LHAVPAANTV
KFRCPAGGNP MPTMRWLKNG KEFKQEHRIG GYKVRNQHWS LIMESVVPSD KGNYTCVVEN
EYGSINHTYH LDVVERSPHR PILQAGLPAN ASTVVGGDVE FVCKVYSDAQ PHIQWIKHVE
KNGSKYGPDG LPYLKVLKAA GVNTTDKEIE VLYIRNVTFE DAGEYTCLAG NSIGISFHCA
WLTVLPAPGR EKEITASPDY LEIAIYCIGV FLIACMVVTV ILCRMKNTTK KPDFSSQPAV
HKLTKRIPLR RQVSAESSSS MNSNTPLVRI TTRLSSTADT PMLAGVSEYE LPEDPKWEFP
RDKLTLGKPL GEGCFGQVVM AEAVGIDKDK PKEAVTVAVK MLKDDATEKD LSDLVSEMEM
MKMIGKHKNI INLLGACTQD GPLYVIVEYA SKGNLREYLR ARRPPGMEYS YDINRVPEEQ
MTFKDLVSCT YQLARGMEYL ASQKCIHRDL AARNVLVTEN NVMKIADFGL ARDINNIDYY
KKTTNGRLPV KWMAPEALFD RVYTHQSDVW SFGVLMWEIF TLGGSPYPGI PVEELFKLLK
EGHRMDKPAN CTNELYMMMR DCWHAVPSQR PTFKQLVEDL DRILTLTTNE EYLDLSQPLE
QYSPSYPDTR SSCSSGDDSV FSPDPMPYEP CLPQYPHING SVKT*

speed

0.80 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999995733919 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM003315)
known disease mutation at this position (HGMD CM060999)
known disease mutation at this position (HGMD CM940784)
known disease mutation: rs13265 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:123276856G>CN/A show variant in all transcripts IGV

HGNC symbol

FGFR2

Ensembl transcript ID

ENST00000346997

Genbank transcript ID

N/A

UniProt peptide

P21802

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1061C>G
cDNA.1073C>G
g.81117C>G

AA changes

S354C Score: 112 explain score(s)

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

354

frameshift

known variant

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.592	1
	6.268	1
(flanking)	1.633	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

354

mutated

not conserved

354

Ptroglodytes

all identical

ENSPTRG00000003003

354

Mmulatta

all identical

ENSMMUG00000009594

201

PKQQ

Fcatus

no alignment

ENSFCAG00000003692

n/a

Mmusculus

all identical

ENSMUSG00000030849

373

Ggallus

all conserved

ENSGALG00000009495

361

Trubripes

all identical

ENSTRUG00000017610

354

Drerio

all conserved

ENSDARG00000058115

377

Dmelanogaster

all conserved

FBgn0010389

284

Celegans

all conserved

F58A3.2

497

EFMAIHL

Xtropicalis

all identical

ENSXETG00000015592

366

protein features

start (aa)	end (aa)	feature	details
22	377	TOPO_DOM	Extracellular (Potential).	lost
256	358	DOMAIN	Ig-like C2-type 3.	lost
349	360	STRAND		lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2460 / 2460

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

820 / 820

position of stopcodon in wt / mu cDNA

2472 / 2472

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

13 / 13

chromosome

strand

-1

last intron/exon boundary

2308

theoretical NMD boundary in CDS

2245

length of CDS

2460

coding sequence (CDS) position

1061

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

1073

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

81117

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

123276856

original gDNA sequence snippet

TATTGGGATATCCTTTCACTCTGCATGGTTGACAGTTCTGC

altered gDNA sequence snippet

TATTGGGATATCCTTTCACTGTGCATGGTTGACAGTTCTGC

original cDNA sequence snippet

TATTGGGATATCCTTTCACTCTGCATGGTTGACAGTTCTGC

altered cDNA sequence snippet

TATTGGGATATCCTTTCACTGTGCATGGTTGACAGTTCTGC

wildtype AA sequence

MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV
RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF
MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP
AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI
NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK
YGPDGLPYLK VLKAAGVNTT DKEIEVLYIR NVTFEDAGEY TCLAGNSIGI SFHSAWLTVL
PAPGREKEIT ASPDYLEIAI YCIGVFLIAC MVVTVILCRM KNTTKKPDFS SQPAVHKLTK
RIPLRRQVSA ESSSSMNSNT PLVRITTRLS STADTPMLAG VSEYELPEDP KWEFPRDKLT
LGKPLGEGCF GQVVMAEAVG IDKDKPKEAV TVAVKMLKDD ATEKDLSDLV SEMEMMKMIG
KHKNIINLLG ACTQDGPLYV IVEYASKGNL REYLRARRPP GMEYSYDINR VPEEQMTFKD
LVSCTYQLAR GMEYLASQKC IHRDLAARNV LVTENNVMKI ADFGLARDIN NIDYYKKTTN
GRLPVKWMAP EALFDRVYTH QSDVWSFGVL MWEIFTLGGS PYPGIPVEEL FKLLKEGHRM
DKPANCTNEL YMMMRDCWHA VPSQRPTFKQ LVEDLDRILT LTTNEEYLDL SQPLEQYSPS
YPDTRSSCSS GDDSVFSPDP MPYEPCLPQY PHINGSVKT*

mutated AA sequence

MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV
RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF
MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP
AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI
NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK
YGPDGLPYLK VLKAAGVNTT DKEIEVLYIR NVTFEDAGEY TCLAGNSIGI SFHCAWLTVL
PAPGREKEIT ASPDYLEIAI YCIGVFLIAC MVVTVILCRM KNTTKKPDFS SQPAVHKLTK
RIPLRRQVSA ESSSSMNSNT PLVRITTRLS STADTPMLAG VSEYELPEDP KWEFPRDKLT
LGKPLGEGCF GQVVMAEAVG IDKDKPKEAV TVAVKMLKDD ATEKDLSDLV SEMEMMKMIG
KHKNIINLLG ACTQDGPLYV IVEYASKGNL REYLRARRPP GMEYSYDINR VPEEQMTFKD
LVSCTYQLAR GMEYLASQKC IHRDLAARNV LVTENNVMKI ADFGLARDIN NIDYYKKTTN
GRLPVKWMAP EALFDRVYTH QSDVWSFGVL MWEIFTLGGS PYPGIPVEEL FKLLKEGHRM
DKPANCTNEL YMMMRDCWHA VPSQRPTFKQ LVEDLDRILT LTTNEEYLDL SQPLEQYSPS
YPDTRSSCSS GDDSVFSPDP MPYEPCLPQY PHINGSVKT*

speed

0.70 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999995733919 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM003315)
known disease mutation at this position (HGMD CM060999)
known disease mutation at this position (HGMD CM940784)
known disease mutation: rs13265 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:123276856G>CN/A show variant in all transcripts IGV

HGNC symbol

FGFR2

Ensembl transcript ID

ENST00000351936

Genbank transcript ID

N/A

UniProt peptide

P21802

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1061C>G
cDNA.1708C>G
g.81117C>G

AA changes

S354C Score: 112 explain score(s)

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

354

frameshift

known variant

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.592	1
	6.268	1
(flanking)	1.633	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

354

mutated

not conserved

354

Ptroglodytes

all identical

ENSPTRG00000003003

354

Mmulatta

all identical

ENSMMUG00000009594

201

PKQQ

Fcatus

no alignment

ENSFCAG00000003692

n/a

Mmusculus

all identical

ENSMUSG00000030849

373

Ggallus

all conserved

ENSGALG00000009495

361

Trubripes

all identical

ENSTRUG00000017610

354

Drerio

all conserved

ENSDARG00000058115

377

Dmelanogaster

all conserved

FBgn0010389

284

Celegans

all conserved

F58A3.2

497

EFMAIHL

Xtropicalis

all identical

ENSXETG00000015592

366

protein features

start (aa)	end (aa)	feature	details
22	377	TOPO_DOM	Extracellular (Potential).	lost
256	358	DOMAIN	Ig-like C2-type 3.	lost
349	360	STRAND		lost

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

3005 / 3005

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

648 / 648

chromosome

strand

-1

last intron/exon boundary

2943

theoretical NMD boundary in CDS

2245

length of CDS

2358

coding sequence (CDS) position

1061

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

1708

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

81117

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

123276856

original gDNA sequence snippet

TATTGGGATATCCTTTCACTCTGCATGGTTGACAGTTCTGC

altered gDNA sequence snippet

TATTGGGATATCCTTTCACTGTGCATGGTTGACAGTTCTGC

original cDNA sequence snippet

TATTGGGATATCCTTTCACTCTGCATGGTTGACAGTTCTGC

altered cDNA sequence snippet

TATTGGGATATCCTTTCACTGTGCATGGTTGACAGTTCTGC

wildtype AA sequence

MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV
RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF
MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP
AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI
NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK
YGPDGLPYLK VLKAAGVNTT DKEIEVLYIR NVTFEDAGEY TCLAGNSIGI SFHSAWLTVL
PAPGREKEIT ASPDYLEIAI YCIGVFLIAC MVVTVILCRM KNTTKKPDFS SQPAVHKLTK
RIPLRRQVSA ESSSSMNSNT PLVRITTRLS STADTPMLAG VSEYELPEDP KWEFPRDKLT
LGKPLGEGCF GQVVMAEAVG IDKDKPKEAV TVAVKMLKDD ATEKDLSDLV SEMEMMKMIG
KHKNIINLLG ACTQDGPLYV IVEYASKGNL REYLRARRPP GMEYSYDINR VPEEQMTFKD
LVSCTYQLAR GMEYLASQKC IHRDLAARNV LVTENNVMKI ADFGLARDIN NIDYYKKTTN
GRLPVKWMAP EALFDRVYTH QSDVWSFGVL MWEIFTLGGS PYPGIPVEEL FKLLKEGHRM
DKPANCTNEL YMMMRDCWHA VPSQRPTFKQ LVEDLDRILT LTTNEEYLDL SQPLEPYSPC
YPDPR*

mutated AA sequence

MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV
RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF
MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP
AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI
NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK
YGPDGLPYLK VLKAAGVNTT DKEIEVLYIR NVTFEDAGEY TCLAGNSIGI SFHCAWLTVL
PAPGREKEIT ASPDYLEIAI YCIGVFLIAC MVVTVILCRM KNTTKKPDFS SQPAVHKLTK
RIPLRRQVSA ESSSSMNSNT PLVRITTRLS STADTPMLAG VSEYELPEDP KWEFPRDKLT
LGKPLGEGCF GQVVMAEAVG IDKDKPKEAV TVAVKMLKDD ATEKDLSDLV SEMEMMKMIG
KHKNIINLLG ACTQDGPLYV IVEYASKGNL REYLRARRPP GMEYSYDINR VPEEQMTFKD
LVSCTYQLAR GMEYLASQKC IHRDLAARNV LVTENNVMKI ADFGLARDIN NIDYYKKTTN
GRLPVKWMAP EALFDRVYTH QSDVWSFGVL MWEIFTLGGS PYPGIPVEEL FKLLKEGHRM
DKPANCTNEL YMMMRDCWHA VPSQRPTFKQ LVEDLDRILT LTTNEEYLDL SQPLEPYSPC
YPDPR*

speed

0.72 s

mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM003315)
known disease mutation at this position (HGMD CM060999)
known disease mutation at this position (HGMD CM940784)
known disease mutation: rs13265 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:123276856G>CN/A show variant in all transcripts IGV

HGNC symbol

FGFR2

Ensembl transcript ID

ENST00000369060

Genbank transcript ID

NM_001144917

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.81117C>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.592	1
	6.268	1
(flanking)	1.633	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

2637

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

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

488 / 488

chromosome

strand

-1

last intron/exon boundary

2441

theoretical NMD boundary in CDS

1903

length of CDS

2118

coding sequence (CDS) position

N/A

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

N/A

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

81117

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

123276856

original gDNA sequence snippet

TATTGGGATATCCTTTCACTCTGCATGGTTGACAGTTCTGC

altered gDNA sequence snippet

TATTGGGATATCCTTTCACTGTGCATGGTTGACAGTTCTGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV
RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF
MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP
AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI
NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK
YGPDGLPYLK VLKVSAESSS SMNSNTPLVR ITTRLSSTAD TPMLAGVSEY ELPEDPKWEF
PRDKLTLGKP LGEGCFGQVV MAEAVGIDKD KPKEAVTVAV KMLKDDATEK DLSDLVSEME
MMKMIGKHKN IINLLGACTQ DGPLYVIVEY ASKGNLREYL RARRPPGMEY SYDINRVPEE
QMTFKDLVSC TYQLARGMEY LASQKCIHRD LAARNVLVTE NNVMKIADFG LARDINNIDY
YKKTTNGRLP VKWMAPEALF DRVYTHQSDV WSFGVLMWEI FTLGGSPYPG IPVEELFKLL
KEGHRMDKPA NCTNELYMMM RDCWHAVPSQ RPTFKQLVED LDRILTLTTN EEYLDLSQPL
EQYSPSYPDT RSSCSSGDDS VFSPDPMPYE PCLPQYPHIN GSVKT*

mutated AA sequence

N/A

speed

0.59 s

mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM003315)
known disease mutation at this position (HGMD CM060999)
known disease mutation at this position (HGMD CM940784)
known disease mutation: rs13265 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:123276856G>CN/A show variant in all transcripts IGV

HGNC symbol

FGFR2

Ensembl transcript ID

ENST00000369059

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.81117C>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.592	1
	6.268	1
(flanking)	1.633	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

1340

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

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

642 / 642

chromosome

strand

-1

last intron/exon boundary

2601

theoretical NMD boundary in CDS

1909

length of CDS

2124

coding sequence (CDS) position

N/A

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

N/A

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

81117

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

123276856

original gDNA sequence snippet

TATTGGGATATCCTTTCACTCTGCATGGTTGACAGTTCTGC

altered gDNA sequence snippet

TATTGGGATATCCTTTCACTGTGCATGGTTGACAGTTCTGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEGAPY WTNTEKMEKR LHAVPAANTV
KFRCPAGGNP MPTMRWLKNG KEFKQEHRIG GYKVRNQHWS LIMESVVPSD KGNYTCVVEN
EYGSINHTYH LDVVERSPHR PILQAGLPAN ASTVVGGDVE FVCKVYSDAQ PHIQWIKHVE
KNGSKYGPDG LPYLKVLKHS GINSSNAEVL ALFNVTEADA GEYICKVSNY IGQANQSAWL
TVLPKQQAPG REKEITASPD YLEIAIYCIG VFLIACMVVT VILCRMKNTT KKPDFSSQPA
VHKLTKRIPL RRQVTVSAES SSSMNSNTPL VRITTRLSST ADTPMLAGVS EYELPEDPKW
EFPRDKLTLG KPLGEGCFGQ VVMAEAVGID KDKPKEAVTV AVKMLKDDAT EKDLSDLVSE
MEMMKMIGKH KNIINLLGAC TQDGPLYVIV EYASKGNLRE YLRARRPPGM EYSYDINRVP
EEQMTFKDLV SCTYQLARGM EYLASQKCIH RDLAARNVLV TENNVMKIAD FGLARDINNI
DYYKKTTNGR LPVKWMAPEA LFDRVYTHQS DVWSFGVLMW EIFTLGGSPY PGIPVEELFK
LLKEGHRMDK PANCTNELYM MMRDCWHAVP SQRPTFKQLV EDLDRILTLT TNEEYLDLSQ
PLEQYSPSYP DTRSSCSSGD DSVFSPDPMP YEPCLPQYPH INGSVKT*

mutated AA sequence

N/A

speed

0.79 s

mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM003315)
known disease mutation at this position (HGMD CM060999)
known disease mutation at this position (HGMD CM940784)
known disease mutation: rs13265 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:123276856G>CN/A show variant in all transcripts IGV

HGNC symbol

FGFR2

Ensembl transcript ID

ENST00000457416

Genbank transcript ID

NM_022970

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.81117C>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.592	1
	6.268	1
(flanking)	1.633	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

1340

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

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

593 / 593

chromosome

strand

-1

last intron/exon boundary

2897

theoretical NMD boundary in CDS

2254

length of CDS

2469

coding sequence (CDS) position

N/A

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

N/A

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

81117

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

123276856

original gDNA sequence snippet

TATTGGGATATCCTTTCACTCTGCATGGTTGACAGTTCTGC

altered gDNA sequence snippet

TATTGGGATATCCTTTCACTGTGCATGGTTGACAGTTCTGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV
RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF
MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP
AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI
NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK
YGPDGLPYLK VLKHSGINSS NAEVLALFNV TEADAGEYIC KVSNYIGQAN QSAWLTVLPK
QQAPGREKEI TASPDYLEIA IYCIGVFLIA CMVVTVILCR MKNTTKKPDF SSQPAVHKLT
KRIPLRRQVT VSAESSSSMN SNTPLVRITT RLSSTADTPM LAGVSEYELP EDPKWEFPRD
KLTLGKPLGE GCFGQVVMAE AVGIDKDKPK EAVTVAVKML KDDATEKDLS DLVSEMEMMK
MIGKHKNIIN LLGACTQDGP LYVIVEYASK GNLREYLRAR RPPGMEYSYD INRVPEEQMT
FKDLVSCTYQ LARGMEYLAS QKCIHRDLAA RNVLVTENNV MKIADFGLAR DINNIDYYKK
TTNGRLPVKW MAPEALFDRV YTHQSDVWSF GVLMWEIFTL GGSPYPGIPV EELFKLLKEG
HRMDKPANCT NELYMMMRDC WHAVPSQRPT FKQLVEDLDR ILTLTTNEEY LDLSQPLEQY
SPSYPDTRSS CSSGDDSVFS PDPMPYEPCL PQYPHINGSV KT*

mutated AA sequence

N/A

speed

0.75 s

mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM003315)
known disease mutation at this position (HGMD CM060999)
known disease mutation at this position (HGMD CM940784)
known disease mutation: rs13265 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:123276856G>CN/A show variant in all transcripts IGV

HGNC symbol

FGFR2

Ensembl transcript ID

ENST00000360144

Genbank transcript ID

NM_001144919

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.81117C>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.592	1
	6.268	1
(flanking)	1.633	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

1340

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

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

622 / 622

chromosome

strand

-1

last intron/exon boundary

2659

theoretical NMD boundary in CDS

1987

length of CDS

2043

coding sequence (CDS) position

N/A

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

N/A

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

81117

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

123276856

original gDNA sequence snippet

TATTGGGATATCCTTTCACTCTGCATGGTTGACAGTTCTGC

altered gDNA sequence snippet

TATTGGGATATCCTTTCACTGTGCATGGTTGACAGTTCTGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEDAIS SGDDEDDTDG AEDFVSENSN
NKRAPYWTNT EKMEKRLHAV PAANTVKFRC PAGGNPMPTM RWLKNGKEFK QEHRIGGYKV
RNQHWSLIME SVVPSDKGNY TCVVENEYGS INHTYHLDVV ERSPHRPILQ AGLPANASTV
VGGDVEFVCK VYSDAQPHIQ WIKHVEKNGS KYGPDGLPYL KVLKHSGINS SNAEVLALFN
VTEADAGEYI CKVSNYIGQA NQSAWLTVLP KQQAPGREKE ITASPDYLEI AIYCIGVFLI
ACMVVTVILC RMKNTTKKPD FSSQPAVHKL TKRIPLRRQV TVSAESSSSM NSNTPLVRIT
TRLSSTADTP MLAGVSEYEL PEDPKWEFPR DKLTLGKPLG EGCFGQVVMA EAVGIDKDKP
KEAVTVAVKM LKDDATEKDL SDLVSEMEMM KMIGKHKNII NLLGACTQDG PLYVIVEYAS
KGNLREYLRA RRPPGMEYSY DINRVPEEQM TFKDLVSCTY QLARGMEYLA SQKCIHRDLA
ARNVLVTENN VMKIADFGLA RDINNIDYYK KTTNGRLPVK WMAPEALFDR VYTHQSDVWS
FGVLMWEIFT LGGSPYPGIP VEELFKLLKE GHRMDKPANC TNELYMMMRD CWHAVPSQRP
TFKQLVEDLD RILTLTTNEI *

mutated AA sequence

N/A

speed

0.59 s

mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM003315)
known disease mutation at this position (HGMD CM060999)
known disease mutation at this position (HGMD CM940784)
known disease mutation: rs13265 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:123276856G>CN/A show variant in all transcripts IGV

HGNC symbol

FGFR2

Ensembl transcript ID

ENST00000369056

Genbank transcript ID

NM_001144913

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.81117C>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.592	1
	6.268	1
(flanking)	1.633	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

1340

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

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

-1

last intron/exon boundary

2329

theoretical NMD boundary in CDS

2254

length of CDS

2310

coding sequence (CDS) position

N/A

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

N/A

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

81117

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

123276856

original gDNA sequence snippet

TATTGGGATATCCTTTCACTCTGCATGGTTGACAGTTCTGC

altered gDNA sequence snippet

TATTGGGATATCCTTTCACTGTGCATGGTTGACAGTTCTGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV
RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF
MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP
AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI
NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK
YGPDGLPYLK VLKHSGINSS NAEVLALFNV TEADAGEYIC KVSNYIGQAN QSAWLTVLPK
QQAPGREKEI TASPDYLEIA IYCIGVFLIA CMVVTVILCR MKNTTKKPDF SSQPAVHKLT
KRIPLRRQVT VSAESSSSMN SNTPLVRITT RLSSTADTPM LAGVSEYELP EDPKWEFPRD
KLTLGKPLGE GCFGQVVMAE AVGIDKDKPK EAVTVAVKML KDDATEKDLS DLVSEMEMMK
MIGKHKNIIN LLGACTQDGP LYVIVEYASK GNLREYLRAR RPPGMEYSYD INRVPEEQMT
FKDLVSCTYQ LARGMEYLAS QKCIHRDLAA RNVLVTENNV MKIADFGLAR DINNIDYYKK
TTNGRLPVKW MAPEALFDRV YTHQSDVWSF GVLMWEIFTL GGSPYPGIPV EELFKLLKEG
HRMDKPANCT NELYMMMRDC WHAVPSQRPT FKQLVEDLDR ILTLTTNEI*

mutated AA sequence

N/A

speed

0.61 s

mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM003315)
known disease mutation at this position (HGMD CM060999)
known disease mutation at this position (HGMD CM940784)
known disease mutation: rs13265 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:123276856G>CN/A show variant in all transcripts IGV

HGNC symbol

FGFR2

Ensembl transcript ID

ENST00000369061

Genbank transcript ID

NM_001144914

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.81117C>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.592	1
	6.268	1
(flanking)	1.633	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

2023

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

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

151 / 151

chromosome

strand

-1

last intron/exon boundary

2116

theoretical NMD boundary in CDS

1915

length of CDS

2130

coding sequence (CDS) position

N/A

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

N/A

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

81117

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

123276856

original gDNA sequence snippet

TATTGGGATATCCTTTCACTCTGCATGGTTGACAGTTCTGC

altered gDNA sequence snippet

TATTGGGATATCCTTTCACTGTGCATGGTTGACAGTTCTGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV
RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF
MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP
AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI
NHTYHLDVVA PGREKEITAS PDYLEIAIYC IGVFLIACMV VTVILCRMKN TTKKPDFSSQ
PAVHKLTKRI PLRRQVTVSA ESSSSMNSNT PLVRITTRLS STADTPMLAG VSEYELPEDP
KWEFPRDKLT LGKPLGEGCF GQVVMAEAVG IDKDKPKEAV TVAVKMLKDD ATEKDLSDLV
SEMEMMKMIG KHKNIINLLG ACTQDGPLYV IVEYASKGNL REYLRARRPP GMEYSYDINR
VPEEQMTFKD LVSCTYQLAR GMEYLASQKC IHRDLAARNV LVTENNVMKI ADFGLARDIN
NIDYYKKTTN GRLPVKWMAP EALFDRVYTH QSDVWSFGVL MWEIFTLGGS PYPGIPVEEL
FKLLKEGHRM DKPANCTNEL YMMMRDCWHA VPSQRPTFKQ LVEDLDRILT LTTNEEYLDL
SQPLEQYSPS YPDTRSSCSS GDDSVFSPDP MPYEPCLPQY PHINGSVKT*

mutated AA sequence

N/A

speed

0.78 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

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