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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000490131
Querying Taster for transcript #2: ENST00000498619
Querying Taster for transcript #3: ENST00000296154
MT speed 2.74 s - this script 4.007582 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CASR	disease_causing_automatic	0.999999999810014	simple_aae		affected	0	G509R	single base exchange	rs193922423		show file
CASR	disease_causing_automatic	0.999999999810014	simple_aae		affected	0	G509R	single base exchange	rs193922423		show file
CASR	disease_causing_automatic	0.999999999810014	simple_aae		affected	0	G509R	single base exchange	rs193922423		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999810014 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM076074)
known disease mutation: rs35778 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:121994806G>AN/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.1525G>A
cDNA.1897G>A
g.92277G>A

AA changes

G509R Score: 125 explain score(s)

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

509

frameshift

known variant

Reference ID: rs193922423

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

known disease mutation: rs35778 (pathogenic for Hypocalcemia, autosomal dominant 1|Familial hypocalciuric hypercalcemia) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM076074)

known disease mutation at this position, please check HGMD for details (HGMD ID CM076074)
known disease mutation at this position, please check HGMD for details (HGMD ID CM076074)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.575	0.781
	5.941	1
(flanking)	5.941	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	92273	wt: 0.9894 / mu: 0.9980 (marginal change - not scored)	wt: AAGGAAGTCGGGTAT mu: AAGGAAGTCAGGTAT	GGAA\|gtcg
Donor gained	92277	0.80	mu: AAGTCAGGTATTACA	GTCA\|ggta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

509

mutated

not conserved

509

Ptroglodytes

all identical

ENSPTRG00000015289

509

Mmulatta

all identical

ENSMMUG00000007886

509

Fcatus

all identical

ENSFCAG00000008717

509

Mmusculus

all identical

ENSMUSG00000051980

509

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000016870

495

Drerio

all identical

ENSDARG00000013649

494

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000011400

502

protein features

start (aa)	end (aa)	feature	details
20	612	TOPO_DOM	Extracellular (Potential).	lost
541	541	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
594	594	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
613	635	TRANSMEM	Helical; Name=1; (Potential).	might get lost (downstream of altered splice site)
636	649	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
650	670	TRANSMEM	Helical; Name=2; (Potential).	might get lost (downstream of altered splice site)
671	681	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
682	700	TRANSMEM	Helical; Name=3; (Potential).	might get lost (downstream of altered splice site)
701	724	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
725	745	TRANSMEM	Helical; Name=4; (Potential).	might get lost (downstream of altered splice site)
746	769	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
770	792	TRANSMEM	Helical; Name=5; (Potential).	might get lost (downstream of altered splice site)
793	805	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
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

1525

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

1897

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

92277

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

121994806

original gDNA sequence snippet

CCATCGTGTTTAAGGAAGTCGGGTATTACAACGTCTATGCC

altered gDNA sequence snippet

CCATCGTGTTTAAGGAAGTCAGGTATTACAACGTCTATGCC

original cDNA sequence snippet

CCATCGTGTTTAAGGAAGTCGGGTATTACAACGTCTATGCC

altered cDNA sequence snippet

CCATCGTGTTTAAGGAAGTCAGGTATTACAACGTCTATGCC

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 GSIVFKEVRY 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*

speed

0.92 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: 0.999999999810014 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM076074)
known disease mutation: rs35778 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:121994806G>AN/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.1525G>A
cDNA.1963G>A
g.92277G>A

AA changes

G509R Score: 125 explain score(s)

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

509

frameshift

known variant

Reference ID: rs193922423

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.575	0.781
	5.941	1
(flanking)	5.941	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	92273	wt: 0.9894 / mu: 0.9980 (marginal change - not scored)	wt: AAGGAAGTCGGGTAT mu: AAGGAAGTCAGGTAT	GGAA\|gtcg
Donor gained	92277	0.80	mu: AAGTCAGGTATTACA	GTCA\|ggta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

509

mutated

not conserved

509

Ptroglodytes

all identical

ENSPTRG00000015289

509

Mmulatta

all identical

ENSMMUG00000007886

509

Fcatus

all identical

ENSFCAG00000008717

509

Mmusculus

all identical

ENSMUSG00000051980

509

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000016870

495

Drerio

all identical

ENSDARG00000013649

494

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000011400

502

protein features

start (aa)	end (aa)	feature	details
20	612	TOPO_DOM	Extracellular (Potential).	lost
541	541	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
594	594	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
613	635	TRANSMEM	Helical; Name=1; (Potential).	might get lost (downstream of altered splice site)
636	649	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
650	670	TRANSMEM	Helical; Name=2; (Potential).	might get lost (downstream of altered splice site)
671	681	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
682	700	TRANSMEM	Helical; Name=3; (Potential).	might get lost (downstream of altered splice site)
701	724	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
725	745	TRANSMEM	Helical; Name=4; (Potential).	might get lost (downstream of altered splice site)
746	769	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
770	792	TRANSMEM	Helical; Name=5; (Potential).	might get lost (downstream of altered splice site)
793	805	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
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

1525

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

1963

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

92277

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

121994806

original gDNA sequence snippet

CCATCGTGTTTAAGGAAGTCGGGTATTACAACGTCTATGCC

altered gDNA sequence snippet

CCATCGTGTTTAAGGAAGTCAGGTATTACAACGTCTATGCC

original cDNA sequence snippet

CCATCGTGTTTAAGGAAGTCGGGTATTACAACGTCTATGCC

altered cDNA sequence snippet

CCATCGTGTTTAAGGAAGTCAGGTATTACAACGTCTATGCC

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 GSIVFKEVRY 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*

speed

0.97 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999810014 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM076074)
known disease mutation: rs35778 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:121994806G>AN/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.1525G>A
cDNA.1553G>A
g.92277G>A

AA changes

G509R Score: 125 explain score(s)

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

509

frameshift

known variant

Reference ID: rs193922423

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.575	0.781
	5.941	1
(flanking)	5.941	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	92273	wt: 0.9894 / mu: 0.9980 (marginal change - not scored)	wt: AAGGAAGTCGGGTAT mu: AAGGAAGTCAGGTAT	GGAA\|gtcg
Donor gained	92277	0.80	mu: AAGTCAGGTATTACA	GTCA\|ggta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

509

mutated

not conserved

509

Ptroglodytes

all identical

ENSPTRG00000015289

509

Mmulatta

all identical

ENSMMUG00000007886

509

Fcatus

all identical

ENSFCAG00000008717

509

Mmusculus

all identical

ENSMUSG00000051980

509

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000016870

495

Drerio

all identical

ENSDARG00000013649

494

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000011400

502

protein features

start (aa)	end (aa)	feature	details
20	612	TOPO_DOM	Extracellular (Potential).	lost
541	541	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
594	594	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
613	635	TRANSMEM	Helical; Name=1; (Potential).	might get lost (downstream of altered splice site)
636	649	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
650	670	TRANSMEM	Helical; Name=2; (Potential).	might get lost (downstream of altered splice site)
671	681	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
682	700	TRANSMEM	Helical; Name=3; (Potential).	might get lost (downstream of altered splice site)
701	724	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
725	745	TRANSMEM	Helical; Name=4; (Potential).	might get lost (downstream of altered splice site)
746	769	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
770	792	TRANSMEM	Helical; Name=5; (Potential).	might get lost (downstream of altered splice site)
793	805	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
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

1525

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

1553

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

92277

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

121994806

original gDNA sequence snippet

CCATCGTGTTTAAGGAAGTCGGGTATTACAACGTCTATGCC

altered gDNA sequence snippet

CCATCGTGTTTAAGGAAGTCAGGTATTACAACGTCTATGCC

original cDNA sequence snippet

CCATCGTGTTTAAGGAAGTCGGGTATTACAACGTCTATGCC

altered cDNA sequence snippet

CCATCGTGTTTAAGGAAGTCAGGTATTACAACGTCTATGCC

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 GSIVFKEVRY 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*

speed

0.85 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