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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000396268
Querying Taster for transcript #2: ENST00000376266
Querying Taster for transcript #3: ENST00000396263
Querying Taster for transcript #4: ENST00000440185
Querying Taster for transcript #5: ENST00000451521
MT speed 0 s - this script 6.287341 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CCHCR1	polymorphism_automatic	2.3166024654131e-11	simple_aae				R417W	single base exchange	rs130068		show file
CCHCR1	polymorphism_automatic	8.60417959103188e-10	simple_aae				R506W	single base exchange	rs130068		show file
CCHCR1	polymorphism_automatic	8.60417959103188e-10	simple_aae				R417W	single base exchange	rs130068		show file
CCHCR1	polymorphism_automatic	8.60417959103188e-10	simple_aae				R417W	single base exchange	rs130068		show file
CCHCR1	polymorphism_automatic	2.59370602773146e-09	simple_aae				R470W	single base exchange	rs130068		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999976834 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:31116246G>AN/A show variant in all transcripts IGV

HGNC symbol

CCHCR1

Ensembl transcript ID

ENST00000396263

Genbank transcript ID

N/A

UniProt peptide

Q8TD31

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1249C>T
cDNA.1401C>T
g.9770C>T

AA changes

R417W Score: 101 explain score(s)

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

417

frameshift

known variant

Reference ID: rs130068

database	homozygous (A/A)	heterozygous	allele carriers
1000G	414	1225	1639
ExAC	11542	9683	21225

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.024	0.018
	0.082	0.004
(flanking)	0.176	0.001

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

417

mutated

not conserved

417

Ptroglodytes

not conserved

ENSPTRG00000017951

420

RHSKSFGNEGRHGGSVTCALSSSQI

EAAA

Mmulatta

all identical

ENSMMUG00000015679

Fcatus

no alignment

ENSFCAG00000019136

n/a

Mmusculus

all identical

ENSMUSG00000040312

500

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000024080

427

KGA

RVSFASKRVDT

protein features

start (aa)	end (aa)	feature	details
344	437	COILED	Potential.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2190 / 2190

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

730 / 730

position of stopcodon in wt / mu cDNA

2342 / 2342

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

153 / 153

chromosome

strand

-1

last intron/exon boundary

2218

theoretical NMD boundary in CDS

2015

length of CDS

2190

coding sequence (CDS) position

1249

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

1401

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

9770

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

31116246

original gDNA sequence snippet

GTGCTCAGGAGGCCAGGCGTCGGTGGCAGCAGCAGACAGCC

altered gDNA sequence snippet

GTGCTCAGGAGGCCAGGCGTTGGTGGCAGCAGCAGACAGCC

original cDNA sequence snippet

GTGCTCAGGAGGCCAGGCGTCGGTGGCAGCAGCAGACAGCC

altered cDNA sequence snippet

GTGCTCAGGAGGCCAGGCGTTGGTGGCAGCAGCAGACAGCC

wildtype AA sequence

MFPPSGSTGL IPPSHFQARP LSTLPRMAPT WLSDIPLVQP PGHQDVSERR LDTQRPQVTM
WERDVSSDRQ EPGRRGRSWG LEGSQALSQQ AEVIVRQLQE LRRLEEEVRL LRETSLQQKM
RLEAQAMELE ALARAEKAGR AEAEGLRAAL AGAEVVRKNL EEGSQRELEE VQRLHQEQLS
SLTQAHEEAL SSLTSKAEGL EKSLSSLETR RAGEAKELAE AQREAELLRK QLSKTQEDLE
AQVTLVENLR KYVGEQVPSE VHSQTWELER QKLLETMQHL QEDRDSLHAT AELLQVRVQS
LTHILALQEE ELTRKVQPSD SLEPEFTRKC QSLLNRWREK VFALMVQLKA QELEHSDSVK
QLKGQVASLQ EKVTSQSQEQ AILQRSLQDK AAEVEVERMG AKGLQLELSR AQEARRRWQQ
QTASAEEQLR LVVNAVSSCP LPPPVTDVSL ELQQLREERN RLDAELQLSA RLIQQEVGRA
REQGEAERQQ LSKVAQQLEQ ELQQTQESLA SLGLQLEVAR QGQQESTEEA ASLRQELTQQ
QELYGQALQE KVAEVETRLR EQLSDTERRL NEARREHAKA VVSLRQIQRR AAQEKERSQE
LRRLQEEARK EEGQRLARRL QELERDKNLM LATLQQEGLL SRYKQQRLLT VLPSLLDKKK
SVVSSPRPPE CSASAPVAAA VPTRESIKGS LSVLLDDLQD LSEAISKEEA VCQGDNLDRC
SSSNPQMSS*

mutated AA sequence

MFPPSGSTGL IPPSHFQARP LSTLPRMAPT WLSDIPLVQP PGHQDVSERR LDTQRPQVTM
WERDVSSDRQ EPGRRGRSWG LEGSQALSQQ AEVIVRQLQE LRRLEEEVRL LRETSLQQKM
RLEAQAMELE ALARAEKAGR AEAEGLRAAL AGAEVVRKNL EEGSQRELEE VQRLHQEQLS
SLTQAHEEAL SSLTSKAEGL EKSLSSLETR RAGEAKELAE AQREAELLRK QLSKTQEDLE
AQVTLVENLR KYVGEQVPSE VHSQTWELER QKLLETMQHL QEDRDSLHAT AELLQVRVQS
LTHILALQEE ELTRKVQPSD SLEPEFTRKC QSLLNRWREK VFALMVQLKA QELEHSDSVK
QLKGQVASLQ EKVTSQSQEQ AILQRSLQDK AAEVEVERMG AKGLQLELSR AQEARRWWQQ
QTASAEEQLR LVVNAVSSCP LPPPVTDVSL ELQQLREERN RLDAELQLSA RLIQQEVGRA
REQGEAERQQ LSKVAQQLEQ ELQQTQESLA SLGLQLEVAR QGQQESTEEA ASLRQELTQQ
QELYGQALQE KVAEVETRLR EQLSDTERRL NEARREHAKA VVSLRQIQRR AAQEKERSQE
LRRLQEEARK EEGQRLARRL QELERDKNLM LATLQQEGLL SRYKQQRLLT VLPSLLDKKK
SVVSSPRPPE CSASAPVAAA VPTRESIKGS LSVLLDDLQD LSEAISKEEA VCQGDNLDRC
SSSNPQMSS*

speed

1.43 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

polymorphism

Model: simple_aae, prob: 0.999999999139582 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:31116246G>AN/A show variant in all transcripts IGV

HGNC symbol

CCHCR1

Ensembl transcript ID

ENST00000396268

Genbank transcript ID

NM_001105564

UniProt peptide

Q8TD31

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1516C>T
cDNA.1705C>T
g.9770C>T

AA changes

R506W Score: 101 explain score(s)

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

506

frameshift

known variant

Reference ID: rs130068

database	homozygous (A/A)	heterozygous	allele carriers
1000G	414	1225	1639
ExAC	11542	9683	21225

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.024	0.018
	0.082	0.004
(flanking)	0.176	0.001

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

506

mutated

not conserved

506

Ptroglodytes

all identical

ENSPTRG00000017951

420

Mmulatta

all identical

ENSMMUG00000015679

Fcatus

no alignment

ENSFCAG00000019136

n/a

Mmusculus

all identical

ENSMUSG00000040312

500

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000024080

404

protein features

start (aa)	end (aa)	feature	details
498	691	COILED	Potential.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2616 / 2616

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

872 / 872

position of stopcodon in wt / mu cDNA

2805 / 2805

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

190 / 190

chromosome

strand

-1

last intron/exon boundary

2681

theoretical NMD boundary in CDS

2441

length of CDS

2616

coding sequence (CDS) position

1516

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

1705

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

9770

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

31116246

original gDNA sequence snippet

GTGCTCAGGAGGCCAGGCGTCGGTGGCAGCAGCAGACAGCC

altered gDNA sequence snippet

GTGCTCAGGAGGCCAGGCGTTGGTGGCAGCAGCAGACAGCC

original cDNA sequence snippet

GTGCTCAGGAGGCCAGGCGTCGGTGGCAGCAGCAGACAGCC

altered cDNA sequence snippet

GTGCTCAGGAGGCCAGGCGTTGGTGGCAGCAGCAGACAGCC

wildtype AA sequence

MWPHSAGARP WASTLTGKDP RVMACWCLDG LPSGLAEPWR ELWRWRSRPL HCVPPFSPLA
RSSRDHRNLR RRGNIDGWRQ NLEPSNNVEM FPPSGSTGLI PPSHFQARPL STLPRMAPTW
LSDIPLVQPP GHQDVSERRL DTQRPQVTMW ERDVSSDRQE PGRRGRSWGL EGSQALSQQA
EVIVRQLQEL RRLEEEVRLL RETSLQQKMR LEAQAMELEA LARAEKAGRA EAEGLRAALA
GAEVVRKNLE EGSQRELEEV QRLHQEQLSS LTQAHEEALS SLTSKAEGLE KSLSSLETRR
AGEAKELAEA QREAELLRKQ LSKTQEDLEA QVTLVENLRK YVGEQVPSEV HSQTWELERQ
KLLETMQHLQ EDRDSLHATA ELLQVRVQSL THILALQEEE LTRKVQPSDS LEPEFTRKCQ
SLLNRWREKV FALMVQLKAQ ELEHSDSVKQ LKGQVASLQE KVTSQSQEQA ILQRSLQDKA
AEVEVERMGA KGLQLELSRA QEARRRWQQQ TASAEEQLRL VVNAVSSSQI WLETTMAKVE
GAAAQLPSLN NRLSYAVRKV HTIRGLIARK LALAQLRQES CPLPPPVTDV SLELQQLREE
RNRLDAELQL SARLIQQEVG RAREQGEAER QQLSKVAQQL EQELQQTQES LASLGLQLEV
ARQGQQESTE EAASLRQELT QQQELYGQAL QEKVAEVETR LREQLSDTER RLNEARREHA
KAVVSLRQIQ RRAAQEKERS QELRRLQEEA RKEEGQRLAR RLQELERDKN LMLATLQQEG
LLSRYKQQRL LTVLPSLLDK KKSVVSSPRP PECSASAPVA AAVPTRESIK GSLSVLLDDL
QDLSEAISKE EAVCQGDNLD RCSSSNPQMS S*

mutated AA sequence

MWPHSAGARP WASTLTGKDP RVMACWCLDG LPSGLAEPWR ELWRWRSRPL HCVPPFSPLA
RSSRDHRNLR RRGNIDGWRQ NLEPSNNVEM FPPSGSTGLI PPSHFQARPL STLPRMAPTW
LSDIPLVQPP GHQDVSERRL DTQRPQVTMW ERDVSSDRQE PGRRGRSWGL EGSQALSQQA
EVIVRQLQEL RRLEEEVRLL RETSLQQKMR LEAQAMELEA LARAEKAGRA EAEGLRAALA
GAEVVRKNLE EGSQRELEEV QRLHQEQLSS LTQAHEEALS SLTSKAEGLE KSLSSLETRR
AGEAKELAEA QREAELLRKQ LSKTQEDLEA QVTLVENLRK YVGEQVPSEV HSQTWELERQ
KLLETMQHLQ EDRDSLHATA ELLQVRVQSL THILALQEEE LTRKVQPSDS LEPEFTRKCQ
SLLNRWREKV FALMVQLKAQ ELEHSDSVKQ LKGQVASLQE KVTSQSQEQA ILQRSLQDKA
AEVEVERMGA KGLQLELSRA QEARRWWQQQ TASAEEQLRL VVNAVSSSQI WLETTMAKVE
GAAAQLPSLN NRLSYAVRKV HTIRGLIARK LALAQLRQES CPLPPPVTDV SLELQQLREE
RNRLDAELQL SARLIQQEVG RAREQGEAER QQLSKVAQQL EQELQQTQES LASLGLQLEV
ARQGQQESTE EAASLRQELT QQQELYGQAL QEKVAEVETR LREQLSDTER RLNEARREHA
KAVVSLRQIQ RRAAQEKERS QELRRLQEEA RKEEGQRLAR RLQELERDKN LMLATLQQEG
LLSRYKQQRL LTVLPSLLDK KKSVVSSPRP PECSASAPVA AAVPTRESIK GSLSVLLDDL
QDLSEAISKE EAVCQGDNLD RCSSSNPQMS S*

speed

1.48 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999139582 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:31116246G>AN/A show variant in all transcripts IGV

HGNC symbol

CCHCR1

Ensembl transcript ID

ENST00000376266

Genbank transcript ID

NM_019052

UniProt peptide

Q8TD31

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1249C>T
cDNA.1372C>T
g.9770C>T

AA changes

R417W Score: 101 explain score(s)

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

417

frameshift

known variant

Reference ID: rs130068

database	homozygous (A/A)	heterozygous	allele carriers
1000G	414	1225	1639
ExAC	11542	9683	21225

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.024	0.018
	0.082	0.004
(flanking)	0.176	0.001

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

417

mutated

not conserved

417

Ptroglodytes

all identical

ENSPTRG00000017951

420

Mmulatta

all identical

ENSMMUG00000015679

Fcatus

no alignment

ENSFCAG00000019136

n/a

Mmusculus

all identical

ENSMUSG00000040312

500

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000024080

404

protein features

start (aa)	end (aa)	feature	details
344	437	COILED	Potential.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2349 / 2349

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

783 / 783

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

124 / 124

chromosome

strand

-1

last intron/exon boundary

2348

theoretical NMD boundary in CDS

2174

length of CDS

2349

coding sequence (CDS) position

1249

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

1372

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

9770

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

31116246

original gDNA sequence snippet

GTGCTCAGGAGGCCAGGCGTCGGTGGCAGCAGCAGACAGCC

altered gDNA sequence snippet

GTGCTCAGGAGGCCAGGCGTTGGTGGCAGCAGCAGACAGCC

original cDNA sequence snippet

GTGCTCAGGAGGCCAGGCGTCGGTGGCAGCAGCAGACAGCC

altered cDNA sequence snippet

GTGCTCAGGAGGCCAGGCGTTGGTGGCAGCAGCAGACAGCC

wildtype AA sequence

MFPPSGSTGL IPPSHFQARP LSTLPRMAPT WLSDIPLVQP PGHQDVSERR LDTQRPQVTM
WERDVSSDRQ EPGRRGRSWG LEGSQALSQQ AEVIVRQLQE LRRLEEEVRL LRETSLQQKM
RLEAQAMELE ALARAEKAGR AEAEGLRAAL AGAEVVRKNL EEGSQRELEE VQRLHQEQLS
SLTQAHEEAL SSLTSKAEGL EKSLSSLETR RAGEAKELAE AQREAELLRK QLSKTQEDLE
AQVTLVENLR KYVGEQVPSE VHSQTWELER QKLLETMQHL QEDRDSLHAT AELLQVRVQS
LTHILALQEE ELTRKVQPSD SLEPEFTRKC QSLLNRWREK VFALMVQLKA QELEHSDSVK
QLKGQVASLQ EKVTSQSQEQ AILQRSLQDK AAEVEVERMG AKGLQLELSR AQEARRRWQQ
QTASAEEQLR LVVNAVSSSQ IWLETTMAKV EGAAAQLPSL NNRLSYAVRK VHTIRGLIAR
KLALAQLRQE SCPLPPPVTD VSLELQQLRE ERNRLDAELQ LSARLIQQEV GRAREQGEAE
RQQLSKVAQQ LEQELQQTQE SLASLGLQLE VARQGQQEST EEAASLRQEL TQQQELYGQA
LQEKVAEVET RLREQLSDTE RRLNEARREH AKAVVSLRQI QRRAAQEKER SQELRRLQEE
ARKEEGQRLA RRLQELERDK NLMLATLQQE GLLSRYKQQR LLTVLPSLLD KKKSVVSSPR
PPECSASAPV AAAVPTRESI KGSLSVLLDD LQDLSEAISK EEAVCQGDNL DRCSSSNPQM
SS*

mutated AA sequence

MFPPSGSTGL IPPSHFQARP LSTLPRMAPT WLSDIPLVQP PGHQDVSERR LDTQRPQVTM
WERDVSSDRQ EPGRRGRSWG LEGSQALSQQ AEVIVRQLQE LRRLEEEVRL LRETSLQQKM
RLEAQAMELE ALARAEKAGR AEAEGLRAAL AGAEVVRKNL EEGSQRELEE VQRLHQEQLS
SLTQAHEEAL SSLTSKAEGL EKSLSSLETR RAGEAKELAE AQREAELLRK QLSKTQEDLE
AQVTLVENLR KYVGEQVPSE VHSQTWELER QKLLETMQHL QEDRDSLHAT AELLQVRVQS
LTHILALQEE ELTRKVQPSD SLEPEFTRKC QSLLNRWREK VFALMVQLKA QELEHSDSVK
QLKGQVASLQ EKVTSQSQEQ AILQRSLQDK AAEVEVERMG AKGLQLELSR AQEARRWWQQ
QTASAEEQLR LVVNAVSSSQ IWLETTMAKV EGAAAQLPSL NNRLSYAVRK VHTIRGLIAR
KLALAQLRQE SCPLPPPVTD VSLELQQLRE ERNRLDAELQ LSARLIQQEV GRAREQGEAE
RQQLSKVAQQ LEQELQQTQE SLASLGLQLE VARQGQQEST EEAASLRQEL TQQQELYGQA
LQEKVAEVET RLREQLSDTE RRLNEARREH AKAVVSLRQI QRRAAQEKER SQELRRLQEE
ARKEEGQRLA RRLQELERDK NLMLATLQQE GLLSRYKQQR LLTVLPSLLD KKKSVVSSPR
PPECSASAPV AAAVPTRESI KGSLSVLLDD LQDLSEAISK EEAVCQGDNL DRCSSSNPQM
SS*

speed

0.45 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999139582 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:31116246G>AN/A show variant in all transcripts IGV

HGNC symbol

CCHCR1

Ensembl transcript ID

ENST00000440185

Genbank transcript ID

N/A

UniProt peptide

Q8TD31

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1249C>T
cDNA.1392C>T
g.9770C>T

AA changes

R417W Score: 101 explain score(s)

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

417

frameshift

known variant

Reference ID: rs130068

database	homozygous (A/A)	heterozygous	allele carriers
1000G	414	1225	1639
ExAC	11542	9683	21225

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.024	0.018
	0.082	0.004
(flanking)	0.176	0.001

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

417

mutated

not conserved

417

Ptroglodytes

all identical

ENSPTRG00000017951

420

Mmulatta

all identical

ENSMMUG00000015679

Fcatus

no alignment

ENSFCAG00000019136

n/a

Mmusculus

all identical

ENSMUSG00000040312

500

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000024080

404

protein features

start (aa)	end (aa)	feature	details
344	437	COILED	Potential.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2307 / 2307

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

769 / 769

position of stopcodon in wt / mu cDNA

2450 / 2450

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

144 / 144

chromosome

strand

-1

last intron/exon boundary

2326

theoretical NMD boundary in CDS

2132

length of CDS

2307

coding sequence (CDS) position

1249

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

1392

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

9770

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

31116246

original gDNA sequence snippet

GTGCTCAGGAGGCCAGGCGTCGGTGGCAGCAGCAGACAGCC

altered gDNA sequence snippet

GTGCTCAGGAGGCCAGGCGTTGGTGGCAGCAGCAGACAGCC

original cDNA sequence snippet

GTGCTCAGGAGGCCAGGCGTCGGTGGCAGCAGCAGACAGCC

altered cDNA sequence snippet

GTGCTCAGGAGGCCAGGCGTTGGTGGCAGCAGCAGACAGCC

wildtype AA sequence

MFPPSGSTGL IPPSHFQARP LSTLPRMAPT WLSDIPLVQP PGHQDVSERR LDTQRPQVTM
WERDVSSDRQ EPGRRGRSWG LEGSQALSQQ AEVIVRQLQE LRRLEEEVRL LRETSLQQKM
RLEAQAMELE ALARAEKAGR AEAEGLRAAL AGAEVVRKNL EEGSQRELEE VQRLHQEQLS
SLTQAHEEAL SSLTSKAEGL EKSLSSLETR RAGEAKELAE AQREAELLRK QLSKTQEDLE
AQVTLVENLR KYVGEQVPSE VHSQTWELER QKLLETMQHL QEDRDSLHAT AELLQVRVQS
LTHILALQEE ELTRKVQPSD SLEPEFTRKC QSLLNRWREK VFALMVQLKA QELEHSDSVK
QLKGQVASLQ EKVTSQSQEQ AILQRSLQDK AAEVEVERMG AKGLQLELSR AQEARRRWQQ
QTASAEEQLR LVVNAVSSSQ IWLETTMAKV EGAAAQLPSL NNRLSYAVRK VHTIRGLIAR
KLALAQLRQE SCPLPPPVTD VSLELQQLRE ERNRLDAELQ LSARLIQQEV GRAREQGEAE
RQQLSKVAQQ LEQELQQTQE SLASLGLQLE VARQGQQEST EEAASLRQEL TQQQELYGQA
LQEKVAEVET RLREQLSDTE RRLNEARREH AKAVVSLRQI QRRAAQEKER SQELRRLQEE
ARKEEGQRLA RRLQELERDK NLMLQRLLTV LPSLLDKKKS VVSSPRPPEC SASAPVAAAV
PTRESIKGSL SVLLDDLQDL SEAISKEEAV CQGDNLDRCS SSNPQMSS*

mutated AA sequence

MFPPSGSTGL IPPSHFQARP LSTLPRMAPT WLSDIPLVQP PGHQDVSERR LDTQRPQVTM
WERDVSSDRQ EPGRRGRSWG LEGSQALSQQ AEVIVRQLQE LRRLEEEVRL LRETSLQQKM
RLEAQAMELE ALARAEKAGR AEAEGLRAAL AGAEVVRKNL EEGSQRELEE VQRLHQEQLS
SLTQAHEEAL SSLTSKAEGL EKSLSSLETR RAGEAKELAE AQREAELLRK QLSKTQEDLE
AQVTLVENLR KYVGEQVPSE VHSQTWELER QKLLETMQHL QEDRDSLHAT AELLQVRVQS
LTHILALQEE ELTRKVQPSD SLEPEFTRKC QSLLNRWREK VFALMVQLKA QELEHSDSVK
QLKGQVASLQ EKVTSQSQEQ AILQRSLQDK AAEVEVERMG AKGLQLELSR AQEARRWWQQ
QTASAEEQLR LVVNAVSSSQ IWLETTMAKV EGAAAQLPSL NNRLSYAVRK VHTIRGLIAR
KLALAQLRQE SCPLPPPVTD VSLELQQLRE ERNRLDAELQ LSARLIQQEV GRAREQGEAE
RQQLSKVAQQ LEQELQQTQE SLASLGLQLE VARQGQQEST EEAASLRQEL TQQQELYGQA
LQEKVAEVET RLREQLSDTE RRLNEARREH AKAVVSLRQI QRRAAQEKER SQELRRLQEE
ARKEEGQRLA RRLQELERDK NLMLQRLLTV LPSLLDKKKS VVSSPRPPEC SASAPVAAAV
PTRESIKGSL SVLLDDLQDL SEAISKEEAV CQGDNLDRCS SSNPQMSS*

speed

1.38 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999997406294 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:31116246G>AN/A show variant in all transcripts IGV

HGNC symbol

CCHCR1

Ensembl transcript ID

ENST00000451521

Genbank transcript ID

NM_001105563

UniProt peptide

Q8TD31

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1408C>T
cDNA.1415C>T
g.9770C>T

AA changes

R470W Score: 101 explain score(s)

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

470

frameshift

known variant

Reference ID: rs130068

database	homozygous (A/A)	heterozygous	allele carriers
1000G	414	1225	1639
ExAC	11542	9683	21225

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.024	0.018
	0.082	0.004
(flanking)	0.176	0.001

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

470

mutated

not conserved

470

Ptroglodytes

all identical

ENSPTRG00000017951

420

Mmulatta

all identical

ENSMMUG00000015679

Fcatus

no alignment

ENSFCAG00000019136

n/a

Mmusculus

all identical

ENSMUSG00000040312

500

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000024080

404

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2508 / 2508

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

836 / 836

position of stopcodon in wt / mu cDNA

2515 / 2515

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

8 / 8

chromosome

strand

-1

last intron/exon boundary

2391

theoretical NMD boundary in CDS

2333

length of CDS

2508

coding sequence (CDS) position

1408

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

1415

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

9770

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

31116246

original gDNA sequence snippet

GTGCTCAGGAGGCCAGGCGTCGGTGGCAGCAGCAGACAGCC

altered gDNA sequence snippet

GTGCTCAGGAGGCCAGGCGTTGGTGGCAGCAGCAGACAGCC

original cDNA sequence snippet

GTGCTCAGGAGGCCAGGCGTCGGTGGCAGCAGCAGACAGCC

altered cDNA sequence snippet

GTGCTCAGGAGGCCAGGCGTTGGTGGCAGCAGCAGACAGCC

wildtype AA sequence

MWPHSAGARP WASTLTGKDP RVMACWCLDG LPSGLAEPWR ELWRWRSRPL HCVPPFSPLA
RSSRDHRNLR RRGNIDGWRQ NLEPSNNVEM FPPSGHQDVS ERRLDTQRPQ VTMWERDVSS
DRQEPGRRGR SWGLEGSQAL SQQAEVIVRQ LQELRRLEEE VRLLRETSLQ QKMRLEAQAM
ELEALARAEK AGRAEAEGLR AALAGAEVVR KNLEEGSQRE LEEVQRLHQE QLSSLTQAHE
EALSSLTSKA EGLEKSLSSL ETRRAGEAKE LAEAQREAEL LRKQLSKTQE DLEAQVTLVE
NLRKYVGEQV PSEVHSQTWE LERQKLLETM QHLQEDRDSL HATAELLQVR VQSLTHILAL
QEEELTRKVQ PSDSLEPEFT RKCQSLLNRW REKVFALMVQ LKAQELEHSD SVKQLKGQVA
SLQEKVTSQS QEQAILQRSL QDKAAEVEVE RMGAKGLQLE LSRAQEARRR WQQQTASAEE
QLRLVVNAVS SSQIWLETTM AKVEGAAAQL PSLNNRLSYA VRKVHTIRGL IARKLALAQL
RQESCPLPPP VTDVSLELQQ LREERNRLDA ELQLSARLIQ QEVGRAREQG EAERQQLSKV
AQQLEQELQQ TQESLASLGL QLEVARQGQQ ESTEEAASLR QELTQQQELY GQALQEKVAE
VETRLREQLS DTERRLNEAR REHAKAVVSL RQIQRRAAQE KERSQELRRL QEEARKEEGQ
RLARRLQELE RDKNLMLATL QQEGLLSRYK QQRLLTVLPS LLDKKKSVVS SPRPPECSAS
APVAAAVPTR ESIKGSLSVL LDDLQDLSEA ISKEEAVCQG DNLDRCSSSN PQMSS*

mutated AA sequence

MWPHSAGARP WASTLTGKDP RVMACWCLDG LPSGLAEPWR ELWRWRSRPL HCVPPFSPLA
RSSRDHRNLR RRGNIDGWRQ NLEPSNNVEM FPPSGHQDVS ERRLDTQRPQ VTMWERDVSS
DRQEPGRRGR SWGLEGSQAL SQQAEVIVRQ LQELRRLEEE VRLLRETSLQ QKMRLEAQAM
ELEALARAEK AGRAEAEGLR AALAGAEVVR KNLEEGSQRE LEEVQRLHQE QLSSLTQAHE
EALSSLTSKA EGLEKSLSSL ETRRAGEAKE LAEAQREAEL LRKQLSKTQE DLEAQVTLVE
NLRKYVGEQV PSEVHSQTWE LERQKLLETM QHLQEDRDSL HATAELLQVR VQSLTHILAL
QEEELTRKVQ PSDSLEPEFT RKCQSLLNRW REKVFALMVQ LKAQELEHSD SVKQLKGQVA
SLQEKVTSQS QEQAILQRSL QDKAAEVEVE RMGAKGLQLE LSRAQEARRW WQQQTASAEE
QLRLVVNAVS SSQIWLETTM AKVEGAAAQL PSLNNRLSYA VRKVHTIRGL IARKLALAQL
RQESCPLPPP VTDVSLELQQ LREERNRLDA ELQLSARLIQ QEVGRAREQG EAERQQLSKV
AQQLEQELQQ TQESLASLGL QLEVARQGQQ ESTEEAASLR QELTQQQELY GQALQEKVAE
VETRLREQLS DTERRLNEAR REHAKAVVSL RQIQRRAAQE KERSQELRRL QEEARKEEGQ
RLARRLQELE RDKNLMLATL QQEGLLSRYK QQRLLTVLPS LLDKKKSVVS SPRPPECSAS
APVAAAVPTR ESIKGSLSVL LDDLQDLSEA ISKEEAVCQG DNLDRCSSSN PQMSS*

speed

0.45 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems