MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 3 transcript(s)...
Querying Taster for transcript #1: ENST00000490131
Querying Taster for transcript #2: ENST00000498619
Querying Taster for transcript #3: ENST00000296154
MT speed 0 s - this script 3.089944 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CASR	disease_causing_automatic	0.99999895210198	simple_aae		affected	0	R795W	single base exchange	rs121909258		show file
CASR	disease_causing_automatic	0.99999895210198	simple_aae		affected	0	R805W	single base exchange	rs121909258		show file
CASR	disease_causing_automatic	0.99999895210198	simple_aae		affected	0	R795W	single base exchange	rs121909258		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.99999895210198 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CD076766)
known disease mutation at this position (HGMD CM930079)
known disease mutation: rs8312 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:122003184C>TN/A show variant in all transcripts IGV

HGNC symbol

CASR

Ensembl transcript ID

ENST00000490131

Genbank transcript ID

NM_000388

UniProt peptide

P41180

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2383C>T
cDNA.2755C>T
g.100655C>T

AA changes

R795W Score: 101 explain score(s)

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

795

frameshift

known variant

Reference ID: rs121909258
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8312 (pathogenic for Hypocalciuric hypercalcemia, familial, type 1|Hypocalcemia, autosomal dominant 1|Familial hypocalciuric hypercalcemia|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CD076766)

known disease mutation at this position, please check HGMD for details (HGMD ID CD076766)
known disease mutation at this position, please check HGMD for details (HGMD ID CM930079)

known disease mutation at this position, please check HGMD for details (HGMD ID CD076766)
known disease mutation at this position, please check HGMD for details (HGMD ID CM930079)
known disease mutation at this position, please check HGMD for details (HGMD ID CD076766)

known disease mutation at this position, please check HGMD for details (HGMD ID CD076766)
known disease mutation at this position, please check HGMD for details (HGMD ID CM930079)
known disease mutation at this position, please check HGMD for details (HGMD ID CD076766)
known disease mutation at this position, please check HGMD for details (HGMD ID CM930079)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.139	0.992
	1.106	0.996
(flanking)	6.13	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
Acc increased	100645	wt: 0.27 / mu: 0.36	wt: GCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCC mu: GCCATCTGCTTCTTCTTTGCCTTCAAGTCCTGGAAGCTGCC	tgcc\|TTCA
Acc marginally increased	100646	wt: 0.9495 / mu: 0.9636 (marginal change - not scored)	wt: CCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCG mu: CCATCTGCTTCTTCTTTGCCTTCAAGTCCTGGAAGCTGCCG	gcct\|TCAA
Acc marginally increased	100656	wt: 0.3652 / mu: 0.3655 (marginal change - not scored)	wt: CTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCA mu: CTTCTTTGCCTTCAAGTCCTGGAAGCTGCCGGAGAACTTCA	cccg\|GAAG

distance from splice site

651

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

795

mutated

not conserved

795

Ptroglodytes

all identical

ENSPTRG00000015289

805

Mmulatta

all identical

ENSMMUG00000007886

805

Fcatus

all identical

ENSFCAG00000008717

804

Mmusculus

all identical

ENSMUSG00000051980

795

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000016870

780

Drerio

all identical

ENSDARG00000013649

781

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000011400

788

protein features

start (aa)	end (aa)	feature	details
770	792	TRANSMEM	Helical; Name=5; (Potential).	might get lost (downstream of altered splice site)
793	805	TOPO_DOM	Cytoplasmic (Potential).	lost
806	828	TRANSMEM	Helical; Name=6; (Potential).	might get lost (downstream of altered splice site)
829	836	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
837	862	TRANSMEM	Helical; Name=7; (Potential).	might get lost (downstream of altered splice site)
857	857	CONFLICT	I -> T (in Ref. 3; BAA09453).	might get lost (downstream of altered splice site)
863	1078	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
878	878	CONFLICT	A -> R (in Ref. 3; BAA09453).	might get lost (downstream of altered splice site)
880	900	REGION	Interaction with RNF19A.	might get lost (downstream of altered splice site)
926	926	CONFLICT	Q -> R (in Ref. 2; AAA86503).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3237 / 3237

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

1079 / 1079

position of stopcodon in wt / mu cDNA

3609 / 3609

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

373 / 373

chromosome

strand

last intron/exon boundary

2105

theoretical NMD boundary in CDS

1682

length of CDS

3237

coding sequence (CDS) position

2383

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

2755

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

100655

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

122003184

original gDNA sequence snippet

TCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTC

altered gDNA sequence snippet

TCTTCTTTGCCTTCAAGTCCTGGAAGCTGCCGGAGAACTTC

original cDNA sequence snippet

TCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTC

altered cDNA sequence snippet

TCTTCTTTGCCTTCAAGTCCTGGAAGCTGCCGGAGAACTTC

wildtype AA sequence

MAFYSCCWVL LALTWHTSAY GPDQRAQKKG DIILGGLFPI HFGVAAKDQD LKSRPESVEC
IRYNFRGFRW LQAMIFAIEE INSSPALLPN LTLGYRIFDT CNTVSKALEA TLSFVAQNKI
DSLNLDEFCN CSEHIPSTIA VVGATGSGVS TAVANLLGLF YIPQVSYASS SRLLSNKNQF
KSFLRTIPND EHQATAMADI IEYFRWNWVG TIAADDDYGR PGIEKFREEA EERDICIDFS
ELISQYSDEE EIQHVVEVIQ NSTAKVIVVF SSGPDLEPLI KEIVRRNITG KIWLASEAWA
SSSLIAMPQY FHVVGGTIGF ALKAGQIPGF REFLKKVHPR KSVHNGFAKE FWEETFNCHL
QEGAKGPLPV DTFLRGHEES GDRFSNSSTA FRPLCTGDEN ISSVETPYID YTHLRISYNV
YLAVYSIAHA LQDIYTCLPG RGLFTNGSCA DIKKVEAWQV LKHLRHLNFT NNMGEQVTFD
ECGDLVGNYS IINWHLSPED GSIVFKEVGY YNVYAKKGER LFINEEKILW SGFSREVPFS
NCSRDCLAGT RKGIIEGEPT CCFECVECPD GEYSDETDAS ACNKCPDDFW SNENHTSCIA
KEIEFLSWTE PFGIALTLFA VLGIFLTAFV LGVFIKFRNT PIVKATNREL SYLLLFSLLC
CFSSSLFFIG EPQDWTCRLR QPAFGISFVL CISCILVKTN RVLLVFEAKI PTSFHRKWWG
LNLQFLLVFL CTFMQIVICV IWLYTAPPSS YRNQELEDEI IFITCHEGSL MALGFLIGYT
CLLAAICFFF AFKSRKLPEN FNEAKFITFS MLIFFIVWIS FIPAYASTYG KFVSAVEVIA
ILAASFGLLA CIFFNKIYII LFKPSRNTIE EVRCSTAAHA FKVAARATLR RSNVSRKRSS
SLGGSTGSTP SSSISSKSNS EDPFPQPERQ KQQQPLALTQ QEQQQQPLTL PQQQRSQQQP
RCKQKVIFGS GTVTFSLSFD EPQKNAMAHR NSTHQNSLEA QKSSDTLTRH EPLLPLQCGE
TDLDLTVQET GLQGPVGGDQ RPEVEDPEEL SPALVVSSSQ SFVISGGGST VTENVVNS*

mutated AA sequence

MAFYSCCWVL LALTWHTSAY GPDQRAQKKG DIILGGLFPI HFGVAAKDQD LKSRPESVEC
IRYNFRGFRW LQAMIFAIEE INSSPALLPN LTLGYRIFDT CNTVSKALEA TLSFVAQNKI
DSLNLDEFCN CSEHIPSTIA VVGATGSGVS TAVANLLGLF YIPQVSYASS SRLLSNKNQF
KSFLRTIPND EHQATAMADI IEYFRWNWVG TIAADDDYGR PGIEKFREEA EERDICIDFS
ELISQYSDEE EIQHVVEVIQ NSTAKVIVVF SSGPDLEPLI KEIVRRNITG KIWLASEAWA
SSSLIAMPQY FHVVGGTIGF ALKAGQIPGF REFLKKVHPR KSVHNGFAKE FWEETFNCHL
QEGAKGPLPV DTFLRGHEES GDRFSNSSTA FRPLCTGDEN ISSVETPYID YTHLRISYNV
YLAVYSIAHA LQDIYTCLPG RGLFTNGSCA DIKKVEAWQV LKHLRHLNFT NNMGEQVTFD
ECGDLVGNYS IINWHLSPED GSIVFKEVGY YNVYAKKGER LFINEEKILW SGFSREVPFS
NCSRDCLAGT RKGIIEGEPT CCFECVECPD GEYSDETDAS ACNKCPDDFW SNENHTSCIA
KEIEFLSWTE PFGIALTLFA VLGIFLTAFV LGVFIKFRNT PIVKATNREL SYLLLFSLLC
CFSSSLFFIG EPQDWTCRLR QPAFGISFVL CISCILVKTN RVLLVFEAKI PTSFHRKWWG
LNLQFLLVFL CTFMQIVICV IWLYTAPPSS YRNQELEDEI IFITCHEGSL MALGFLIGYT
CLLAAICFFF AFKSWKLPEN FNEAKFITFS MLIFFIVWIS FIPAYASTYG KFVSAVEVIA
ILAASFGLLA CIFFNKIYII LFKPSRNTIE EVRCSTAAHA FKVAARATLR RSNVSRKRSS
SLGGSTGSTP SSSISSKSNS EDPFPQPERQ KQQQPLALTQ QEQQQQPLTL PQQQRSQQQP
RCKQKVIFGS GTVTFSLSFD EPQKNAMAHR NSTHQNSLEA QKSSDTLTRH EPLLPLQCGE
TDLDLTVQET GLQGPVGGDQ RPEVEDPEEL SPALVVSSSQ SFVISGGGST VTENVVNS*

speed

0.47 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: 0.99999895210198 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CD076766)
known disease mutation at this position (HGMD CM930079)
known disease mutation: rs8312 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:122003184C>TN/A show variant in all transcripts IGV

HGNC symbol

CASR

Ensembl transcript ID

ENST00000498619

Genbank transcript ID

NM_001178065

UniProt peptide

P41180

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2413C>T
cDNA.2851C>T
g.100655C>T

AA changes

R805W Score: 101 explain score(s)

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

805

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)	0.139	0.992
	1.106	0.996
(flanking)	6.13	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
Acc increased	100645	wt: 0.27 / mu: 0.36	wt: GCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCC mu: GCCATCTGCTTCTTCTTTGCCTTCAAGTCCTGGAAGCTGCC	tgcc\|TTCA
Acc marginally increased	100646	wt: 0.9495 / mu: 0.9636 (marginal change - not scored)	wt: CCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCG mu: CCATCTGCTTCTTCTTTGCCTTCAAGTCCTGGAAGCTGCCG	gcct\|TCAA
Acc marginally increased	100656	wt: 0.3652 / mu: 0.3655 (marginal change - not scored)	wt: CTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCA mu: CTTCTTTGCCTTCAAGTCCTGGAAGCTGCCGGAGAACTTCA	cccg\|GAAG

distance from splice site

651

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

805

mutated

not conserved

805

Ptroglodytes

all identical

ENSPTRG00000015289

805

Mmulatta

all identical

ENSMMUG00000007886

805

Fcatus

all identical

ENSFCAG00000008717

804

Mmusculus

all identical

ENSMUSG00000051980

795

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000016870

780

Drerio

all identical

ENSDARG00000013649

781

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000011400

788

protein features

start (aa)	end (aa)	feature	details
793	805	TOPO_DOM	Cytoplasmic (Potential).	lost
806	828	TRANSMEM	Helical; Name=6; (Potential).	might get lost (downstream of altered splice site)
829	836	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
837	862	TRANSMEM	Helical; Name=7; (Potential).	might get lost (downstream of altered splice site)
857	857	CONFLICT	I -> T (in Ref. 3; BAA09453).	might get lost (downstream of altered splice site)
863	1078	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
878	878	CONFLICT	A -> R (in Ref. 3; BAA09453).	might get lost (downstream of altered splice site)
880	900	REGION	Interaction with RNF19A.	might get lost (downstream of altered splice site)
926	926	CONFLICT	Q -> R (in Ref. 2; AAA86503).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3267 / 3267

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

1089 / 1089

position of stopcodon in wt / mu cDNA

3705 / 3705

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

439 / 439

chromosome

strand

last intron/exon boundary

2201

theoretical NMD boundary in CDS

1712

length of CDS

3267

coding sequence (CDS) position

2413

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

2851

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

100655

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

122003184

original gDNA sequence snippet

TCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTC

altered gDNA sequence snippet

TCTTCTTTGCCTTCAAGTCCTGGAAGCTGCCGGAGAACTTC

original cDNA sequence snippet

TCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTC

altered cDNA sequence snippet

TCTTCTTTGCCTTCAAGTCCTGGAAGCTGCCGGAGAACTTC

wildtype AA sequence

MAFYSCCWVL LALTWHTSAY GPDQRAQKKG DIILGGLFPI HFGVAAKDQD LKSRPESVEC
IRYNFRGFRW LQAMIFAIEE INSSPALLPN LTLGYRIFDT CNTVSKALEA TLSFVAQNKI
DSLNLDEFCN CSEHIPSTIA VVGATGSGVS TAVANLLGLF YIPQVSYASS SRLLSNKNQF
KSFLRTIPND EHQATAMADI IEYFRWNWVG TIAADDDYGR PGIEKFREEA EERDICIDFS
ELISQYSDEE EIQHVVEVIQ NSTAKVIVVF SSGPDLEPLI KEIVRRNITG KIWLASEAWA
SSSLIAMPQY FHVVGGTIGF ALKAGQIPGF REFLKKVHPR KSVHNGFAKE FWEETFNCHL
QEGAKGPLPV DTFLRGHEES GDRFSNSSTA FRPLCTGDEN ISSVETPYID YTHLRISYNV
YLAVYSIAHA LQDIYTCLPG RGLFTNGSCA DIKKVEAWQV LKHLRHLNFT NNMGEQVTFD
ECGDLVGNYS IINWHLSPED GSIVFKEVGY YNVYAKKGER LFINEEKILW SGFSREPLTF
VLSVLQVPFS NCSRDCLAGT RKGIIEGEPT CCFECVECPD GEYSDETDAS ACNKCPDDFW
SNENHTSCIA KEIEFLSWTE PFGIALTLFA VLGIFLTAFV LGVFIKFRNT PIVKATNREL
SYLLLFSLLC CFSSSLFFIG EPQDWTCRLR QPAFGISFVL CISCILVKTN RVLLVFEAKI
PTSFHRKWWG LNLQFLLVFL CTFMQIVICV IWLYTAPPSS YRNQELEDEI IFITCHEGSL
MALGFLIGYT CLLAAICFFF AFKSRKLPEN FNEAKFITFS MLIFFIVWIS FIPAYASTYG
KFVSAVEVIA ILAASFGLLA CIFFNKIYII LFKPSRNTIE EVRCSTAAHA FKVAARATLR
RSNVSRKRSS SLGGSTGSTP SSSISSKSNS EDPFPQPERQ KQQQPLALTQ QEQQQQPLTL
PQQQRSQQQP RCKQKVIFGS GTVTFSLSFD EPQKNAMAHR NSTHQNSLEA QKSSDTLTRH
EPLLPLQCGE TDLDLTVQET GLQGPVGGDQ RPEVEDPEEL SPALVVSSSQ SFVISGGGST
VTENVVNS*

mutated AA sequence

MAFYSCCWVL LALTWHTSAY GPDQRAQKKG DIILGGLFPI HFGVAAKDQD LKSRPESVEC
IRYNFRGFRW LQAMIFAIEE INSSPALLPN LTLGYRIFDT CNTVSKALEA TLSFVAQNKI
DSLNLDEFCN CSEHIPSTIA VVGATGSGVS TAVANLLGLF YIPQVSYASS SRLLSNKNQF
KSFLRTIPND EHQATAMADI IEYFRWNWVG TIAADDDYGR PGIEKFREEA EERDICIDFS
ELISQYSDEE EIQHVVEVIQ NSTAKVIVVF SSGPDLEPLI KEIVRRNITG KIWLASEAWA
SSSLIAMPQY FHVVGGTIGF ALKAGQIPGF REFLKKVHPR KSVHNGFAKE FWEETFNCHL
QEGAKGPLPV DTFLRGHEES GDRFSNSSTA FRPLCTGDEN ISSVETPYID YTHLRISYNV
YLAVYSIAHA LQDIYTCLPG RGLFTNGSCA DIKKVEAWQV LKHLRHLNFT NNMGEQVTFD
ECGDLVGNYS IINWHLSPED GSIVFKEVGY YNVYAKKGER LFINEEKILW SGFSREPLTF
VLSVLQVPFS NCSRDCLAGT RKGIIEGEPT CCFECVECPD GEYSDETDAS ACNKCPDDFW
SNENHTSCIA KEIEFLSWTE PFGIALTLFA VLGIFLTAFV LGVFIKFRNT PIVKATNREL
SYLLLFSLLC CFSSSLFFIG EPQDWTCRLR QPAFGISFVL CISCILVKTN RVLLVFEAKI
PTSFHRKWWG LNLQFLLVFL CTFMQIVICV IWLYTAPPSS YRNQELEDEI IFITCHEGSL
MALGFLIGYT CLLAAICFFF AFKSWKLPEN FNEAKFITFS MLIFFIVWIS FIPAYASTYG
KFVSAVEVIA ILAASFGLLA CIFFNKIYII LFKPSRNTIE EVRCSTAAHA FKVAARATLR
RSNVSRKRSS SLGGSTGSTP SSSISSKSNS EDPFPQPERQ KQQQPLALTQ QEQQQQPLTL
PQQQRSQQQP RCKQKVIFGS GTVTFSLSFD EPQKNAMAHR NSTHQNSLEA QKSSDTLTRH
EPLLPLQCGE TDLDLTVQET GLQGPVGGDQ RPEVEDPEEL SPALVVSSSQ SFVISGGGST
VTENVVNS*

speed

0.48 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.99999895210198 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CD076766)
known disease mutation at this position (HGMD CM930079)
known disease mutation: rs8312 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:122003184C>TN/A show variant in all transcripts IGV

HGNC symbol

CASR

Ensembl transcript ID

ENST00000296154

Genbank transcript ID

N/A

UniProt peptide

P41180

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2383C>T
cDNA.2411C>T
g.100655C>T

AA changes

R795W Score: 101 explain score(s)

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

795

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)	0.139	0.992
	1.106	0.996
(flanking)	6.13	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
Acc increased	100645	wt: 0.27 / mu: 0.36	wt: GCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCC mu: GCCATCTGCTTCTTCTTTGCCTTCAAGTCCTGGAAGCTGCC	tgcc\|TTCA
Acc marginally increased	100646	wt: 0.9495 / mu: 0.9636 (marginal change - not scored)	wt: CCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCG mu: CCATCTGCTTCTTCTTTGCCTTCAAGTCCTGGAAGCTGCCG	gcct\|TCAA
Acc marginally increased	100656	wt: 0.3652 / mu: 0.3655 (marginal change - not scored)	wt: CTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCA mu: CTTCTTTGCCTTCAAGTCCTGGAAGCTGCCGGAGAACTTCA	cccg\|GAAG

distance from splice site

651

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

795

mutated

not conserved

795

Ptroglodytes

all identical

ENSPTRG00000015289

805

Mmulatta

all identical

ENSMMUG00000007886

805

Fcatus

all identical

ENSFCAG00000008717

804

Mmusculus

all identical

ENSMUSG00000051980

795

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000016870

780

Drerio

all identical

ENSDARG00000013649

781

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000011400

788

protein features

start (aa)	end (aa)	feature	details
770	792	TRANSMEM	Helical; Name=5; (Potential).	might get lost (downstream of altered splice site)
793	805	TOPO_DOM	Cytoplasmic (Potential).	lost
806	828	TRANSMEM	Helical; Name=6; (Potential).	might get lost (downstream of altered splice site)
829	836	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
837	862	TRANSMEM	Helical; Name=7; (Potential).	might get lost (downstream of altered splice site)
857	857	CONFLICT	I -> T (in Ref. 3; BAA09453).	might get lost (downstream of altered splice site)
863	1078	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
878	878	CONFLICT	A -> R (in Ref. 3; BAA09453).	might get lost (downstream of altered splice site)
880	900	REGION	Interaction with RNF19A.	might get lost (downstream of altered splice site)
926	926	CONFLICT	Q -> R (in Ref. 2; AAA86503).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3237 / 3237

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

1079 / 1079

position of stopcodon in wt / mu cDNA

3265 / 3265

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

29 / 29

chromosome

strand

last intron/exon boundary

1761

theoretical NMD boundary in CDS

1682

length of CDS

3237

coding sequence (CDS) position

2383

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

2411

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

100655

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

122003184

original gDNA sequence snippet

TCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTC

altered gDNA sequence snippet

TCTTCTTTGCCTTCAAGTCCTGGAAGCTGCCGGAGAACTTC

original cDNA sequence snippet

TCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTC

altered cDNA sequence snippet

TCTTCTTTGCCTTCAAGTCCTGGAAGCTGCCGGAGAACTTC

wildtype AA sequence

mutated AA sequence

MAFYSCCWVL LALTWHTSAY GPDQRAQKKG DIILGGLFPI HFGVAAKDQD LKSRPESVEC
IRYNFRGFRW LQAMIFAIEE INSSPALLPN LTLGYRIFDT CNTVSKALEA TLSFVAQNKI
DSLNLDEFCN CSEHIPSTIA VVGATGSGVS TAVANLLGLF YIPQVSYASS SRLLSNKNQF
KSFLRTIPND EHQATAMADI IEYFRWNWVG TIAADDDYGR PGIEKFREEA EERDICIDFS
ELISQYSDEE EIQHVVEVIQ NSTAKVIVVF SSGPDLEPLI KEIVRRNITG KIWLASEAWA
SSSLIAMPQY FHVVGGTIGF ALKAGQIPGF REFLKKVHPR KSVHNGFAKE FWEETFNCHL
QEGAKGPLPV DTFLRGHEES GDRFSNSSTA FRPLCTGDEN ISSVETPYID YTHLRISYNV
YLAVYSIAHA LQDIYTCLPG RGLFTNGSCA DIKKVEAWQV LKHLRHLNFT NNMGEQVTFD
ECGDLVGNYS IINWHLSPED GSIVFKEVGY YNVYAKKGER LFINEEKILW SGFSREVPFS
NCSRDCLAGT RKGIIEGEPT CCFECVECPD GEYSDETDAS ACNKCPDDFW SNENHTSCIA
KEIEFLSWTE PFGIALTLFA VLGIFLTAFV LGVFIKFRNT PIVKATNREL SYLLLFSLLC
CFSSSLFFIG EPQDWTCRLR QPAFGISFVL CISCILVKTN RVLLVFEAKI PTSFHRKWWG
LNLQFLLVFL CTFMQIVICV IWLYTAPPSS YRNQELEDEI IFITCHEGSL MALGFLIGYT
CLLAAICFFF AFKSWKLPEN FNEAKFITFS MLIFFIVWIS FIPAYASTYG KFVSAVEVIA
ILAASFGLLA CIFFNKIYII LFKPSRNTIE EVRCSTAAHA FKVAARATLR RSNVSRKRSS
SLGGSTGSTP SSSISSKSNS EDPFPQPERQ KQQQPLALTQ QEQQQQPLTL PQQQRSQQQP
RCKQKVIFGS GTVTFSLSFD EPQKNAMAHR NSTHQNSLEA QKSSDTLTRH EPLLPLQCGE
TDLDLTVQET GLQGPVGGDQ RPEVEDPEEL SPALVVSSSQ SFVISGGGST VTENVVNS*

speed

0.46 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

Problems