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 0 s - this script 2.983499 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CASR	disease_causing	0.999999452306653	simple_aae		affected		R465Q	single base exchange	rs104893716		show file
CASR	disease_causing	0.999999452306653	simple_aae		affected		R465Q	single base exchange	rs104893716		show file
CASR	disease_causing	0.999999452306653	simple_aae		affected		R465Q	single base exchange	rs104893716		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999452306653 (explain)

Summary

amino acid sequence changed
known as potential disease variant: rs8352 (probable pathogenic)
known disease mutation at this position (HGMD CM060892)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:121994675G>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.1394G>A
cDNA.1766G>A
g.92146G>A

AA changes

R465Q Score: 43 explain score(s)

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

465

frameshift

known variant

Reference ID: rs104893716
Allele 'A' was neither found in ExAC nor 1000G.
known as potential disease variant: rs8352 (probable pathogenic for Hypocalciuric hypercalcemia, familial, type 1|Hypocalcemia, autosomal dominant 1|Familial hypocalciuric hypercalcemia) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM060892)

known disease mutation at this position, please check HGMD for details (HGMD ID CM060892)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060892)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.811	1
	4.379	1
(flanking)	-0.162	0.962

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 marginally increased	92136	wt: 0.7760 / mu: 0.7895 (marginal change - not scored)	wt: TTGCTCCTCTTTAGGTCCTGAAGCACCTACGGCATCTAAAC mu: TTGCTCCTCTTTAGGTCCTGAAGCACCTACAGCATCTAAAC	ctga\|AGCA
Donor increased	92150	wt: 0.34 / mu: 0.39	wt: CGGCATCTAAACTTT mu: CAGCATCTAAACTTT	GCAT\|ctaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

465

mutated

all conserved

465

Ptroglodytes

all identical

ENSPTRG00000015289

465

Mmulatta

all identical

ENSMMUG00000007886

465

Fcatus

all identical

ENSFCAG00000008717

465

Mmusculus

all identical

ENSMUSG00000051980

465

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000016870

451

Drerio

all identical

ENSDARG00000013649

450

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000011400

458

protein features

start (aa)	end (aa)	feature	details
20	612	TOPO_DOM	Extracellular (Potential).	lost
468	468	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
488	488	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
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

1394

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

1766

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

92146

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

121994675

original gDNA sequence snippet

TTAGGTCCTGAAGCACCTACGGCATCTAAACTTTACAAACA

altered gDNA sequence snippet

TTAGGTCCTGAAGCACCTACAGCATCTAAACTTTACAAACA

original cDNA sequence snippet

GCAGGTCCTGAAGCACCTACGGCATCTAAACTTTACAAACA

altered cDNA sequence snippet

GCAGGTCCTGAAGCACCTACAGCATCTAAACTTTACAAACA

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 LKHLQHLNFT 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*

speed

0.46 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: 0.999999452306653 (explain)

Summary

amino acid sequence changed
known as potential disease variant: rs8352 (probable pathogenic)
known disease mutation at this position (HGMD CM060892)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:121994675G>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.1394G>A
cDNA.1832G>A
g.92146G>A

AA changes

R465Q Score: 43 explain score(s)

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

465

frameshift

known variant

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.811	1
	4.379	1
(flanking)	-0.162	0.962

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 marginally increased	92136	wt: 0.7760 / mu: 0.7895 (marginal change - not scored)	wt: TTGCTCCTCTTTAGGTCCTGAAGCACCTACGGCATCTAAAC mu: TTGCTCCTCTTTAGGTCCTGAAGCACCTACAGCATCTAAAC	ctga\|AGCA
Donor increased	92150	wt: 0.34 / mu: 0.39	wt: CGGCATCTAAACTTT mu: CAGCATCTAAACTTT	GCAT\|ctaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

465

mutated

all conserved

465

Ptroglodytes

all identical

ENSPTRG00000015289

465

Mmulatta

all identical

ENSMMUG00000007886

465

Fcatus

all identical

ENSFCAG00000008717

465

Mmusculus

all identical

ENSMUSG00000051980

465

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000016870

451

Drerio

all identical

ENSDARG00000013649

450

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000011400

458

protein features

start (aa)	end (aa)	feature	details
20	612	TOPO_DOM	Extracellular (Potential).	lost
468	468	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
488	488	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
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

1394

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

1832

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

92146

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

121994675

original gDNA sequence snippet

TTAGGTCCTGAAGCACCTACGGCATCTAAACTTTACAAACA

altered gDNA sequence snippet

TTAGGTCCTGAAGCACCTACAGCATCTAAACTTTACAAACA

original cDNA sequence snippet

GCAGGTCCTGAAGCACCTACGGCATCTAAACTTTACAAACA

altered cDNA sequence snippet

GCAGGTCCTGAAGCACCTACAGCATCTAAACTTTACAAACA

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 LKHLQHLNFT 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*

speed

0.47 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999452306653 (explain)

Summary

amino acid sequence changed
known as potential disease variant: rs8352 (probable pathogenic)
known disease mutation at this position (HGMD CM060892)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:121994675G>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.1394G>A
cDNA.1422G>A
g.92146G>A

AA changes

R465Q Score: 43 explain score(s)

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

465

frameshift

known variant

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.811	1
	4.379	1
(flanking)	-0.162	0.962

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 marginally increased	92136	wt: 0.7760 / mu: 0.7895 (marginal change - not scored)	wt: TTGCTCCTCTTTAGGTCCTGAAGCACCTACGGCATCTAAAC mu: TTGCTCCTCTTTAGGTCCTGAAGCACCTACAGCATCTAAAC	ctga\|AGCA
Donor increased	92150	wt: 0.34 / mu: 0.39	wt: CGGCATCTAAACTTT mu: CAGCATCTAAACTTT	GCAT\|ctaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

465

mutated

all conserved

465

Ptroglodytes

all identical

ENSPTRG00000015289

465

Mmulatta

all identical

ENSMMUG00000007886

465

Fcatus

all identical

ENSFCAG00000008717

465

Mmusculus

all identical

ENSMUSG00000051980

465

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000016870

451

Drerio

all identical

ENSDARG00000013649

450

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000011400

458

protein features

start (aa)	end (aa)	feature	details
20	612	TOPO_DOM	Extracellular (Potential).	lost
468	468	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
488	488	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
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

1394

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

1422

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

92146

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

121994675

original gDNA sequence snippet

TTAGGTCCTGAAGCACCTACGGCATCTAAACTTTACAAACA

altered gDNA sequence snippet

TTAGGTCCTGAAGCACCTACAGCATCTAAACTTTACAAACA

original cDNA sequence snippet

GCAGGTCCTGAAGCACCTACGGCATCTAAACTTTACAAACA

altered cDNA sequence snippet

GCAGGTCCTGAAGCACCTACAGCATCTAAACTTTACAAACA

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 LKHLQHLNFT 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*

speed

0.42 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