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: ENST00000367800
Querying Taster for transcript #2: ENST00000457866
Querying Taster for transcript #3: ENST00000265602
Querying Taster for transcript #4: ENST00000327035
Querying Taster for transcript #5: ENST00000417892
MT speed 5.31 s - this script 5.552265 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
AHI1	disease_causing_automatic	0.999991146288722	simple_aae			0	R77Q	single base exchange	rs121434351		show file
AHI1	disease_causing_automatic	0.999993445248412	simple_aae			0	R723Q	single base exchange	rs121434351		show file
AHI1	disease_causing_automatic	0.999993445248412	simple_aae			0	R723Q	single base exchange	rs121434351		show file
AHI1	disease_causing_automatic	0.999993445248412	simple_aae			0	R723Q	single base exchange	rs121434351		show file
AHI1	disease_causing_automatic	0.999993445248412	simple_aae			0	R723Q	single base exchange	rs121434351		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999991146288722 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM060807)
known disease mutation: rs2015 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:135754263C>TN/A show variant in all transcripts IGV

HGNC symbol

AHI1

Ensembl transcript ID

ENST00000417892

Genbank transcript ID

N/A

UniProt peptide

Q8N157

alteration type

single base exchange

alteration region

CDS

DNA changes

c.230G>A
cDNA.360G>A
g.64652G>A

AA changes

R77Q Score: 43 explain score(s)

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

frameshift

known variant

Reference ID: rs121434351

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	5	5

known disease mutation: rs2015 (pathogenic for Joubert syndrome|Joubert syndrome 3|Joubert syndrome with ocular defect) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM060807)

known disease mutation at this position, please check HGMD for details (HGMD ID CM060807)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060807)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.244	0.997
	5.781	1
(flanking)	1.348	0.992

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	64652	wt: 0.9687 / mu: 0.9952 (marginal change - not scored)	wt: GATACGGATATGGAA mu: GATACAGATATGGAA	TACG\|gata

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000009368

721

Fcatus

all identical

ENSFCAG00000001813

715

Mmusculus

all identical

ENSMUSG00000019986

573

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000044056

660

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000003723

723

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1497 / 1497

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

499 / 499

position of stopcodon in wt / mu cDNA

1627 / 1627

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

131 / 131

chromosome

strand

-1

last intron/exon boundary

2169

theoretical NMD boundary in CDS

1988

length of CDS

1497

coding sequence (CDS) position

230

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

360

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

64652

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

135754263

original gDNA sequence snippet

ATGCTATGATTCCATGATACGGATATGGAAAGTTGAGATGA

altered gDNA sequence snippet

ATGCTATGATTCCATGATACAGATATGGAAAGTTGAGATGA

original cDNA sequence snippet

ATGCTATGATTCCATGATACGGATATGGAAAGTTGAGATGA

altered cDNA sequence snippet

ATGCTATGATTCCATGATACAGATATGGAAAGTTGAGATGA

wildtype AA sequence

MRELCGHLNI IYDLSWSKDD HYILTSSSDG TARIWKNEIN NTNTFRVLPH PSFVYTAKFH
PAVRELVVTG CYDSMIRIWK VEMREDSAIL VRQFDVHKSF INSLCFDTEG HHMYSGDCTG
VIVVWNTYVK INDLEHSVHH WTINKEIKET EFKGIPISYL EIHPNGKRLL IHTKDSTLRI
MDLRILVARK FVGAANYREK IHSTLTPCGT FLFAGSEDGI VYVWNPETGE QVAMYSDLPF
KSPIRDISYH PFENMVAFCA FGQNEPILLY IYDFHVAQQE AEMFKRYNGT FPLPGIHQSQ
DALCTCPKLP HQGSFQIDEF VHTESSSTKM QLVKQRLETV TEVIRSCAAK VNKNLSFTSP
PAVSSQQSKL KQSNMLTAQE ILHQFGFTQT GIISIERKPC NHQVDTAPTV VALYDYTANR
SDELTIHRGD IIRVFFKDNE DWWYGSIGKG QEGYFPANHV ASETLYQELP PEIKERSPPL
SPEEKTKIEK SPAPQKVK*

mutated AA sequence

MRELCGHLNI IYDLSWSKDD HYILTSSSDG TARIWKNEIN NTNTFRVLPH PSFVYTAKFH
PAVRELVVTG CYDSMIQIWK VEMREDSAIL VRQFDVHKSF INSLCFDTEG HHMYSGDCTG
VIVVWNTYVK INDLEHSVHH WTINKEIKET EFKGIPISYL EIHPNGKRLL IHTKDSTLRI
MDLRILVARK FVGAANYREK IHSTLTPCGT FLFAGSEDGI VYVWNPETGE QVAMYSDLPF
KSPIRDISYH PFENMVAFCA FGQNEPILLY IYDFHVAQQE AEMFKRYNGT FPLPGIHQSQ
DALCTCPKLP HQGSFQIDEF VHTESSSTKM QLVKQRLETV TEVIRSCAAK VNKNLSFTSP
PAVSSQQSKL KQSNMLTAQE ILHQFGFTQT GIISIERKPC NHQVDTAPTV VALYDYTANR
SDELTIHRGD IIRVFFKDNE DWWYGSIGKG QEGYFPANHV ASETLYQELP PEIKERSPPL
SPEEKTKIEK SPAPQKVK*

speed

0.90 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: 0.999993445248412 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM060807)
known disease mutation: rs2015 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:135754263C>TN/A show variant in all transcripts IGV

HGNC symbol

AHI1

Ensembl transcript ID

ENST00000367800

Genbank transcript ID

NM_001134830

UniProt peptide

Q8N157

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2168G>A
cDNA.2385G>A
g.64652G>A

AA changes

R723Q Score: 43 explain score(s)

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

723

frameshift

known variant

Reference ID: rs121434351

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	5	5

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.244	0.997
	5.781	1
(flanking)	1.348	0.992

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	64652	wt: 0.9687 / mu: 0.9952 (marginal change - not scored)	wt: GATACGGATATGGAA mu: GATACAGATATGGAA	TACG\|gata

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

723

mutated

all conserved

723

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000009368

721

Fcatus

all identical

ENSFCAG00000001813

715

Mmusculus

all identical

ENSMUSG00000019986

573

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000044056

660

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000003723

723

protein features

start (aa)	end (aa)	feature	details
695	735	REPEAT	WD 3.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3591 / 3591

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

1197 / 1197

position of stopcodon in wt / mu cDNA

3808 / 3808

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

218 / 218

chromosome

strand

-1

last intron/exon boundary

3806

theoretical NMD boundary in CDS

3538

length of CDS

3591

coding sequence (CDS) position

2168

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

2385

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

64652

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

135754263

original gDNA sequence snippet

ATGCTATGATTCCATGATACGGATATGGAAAGTTGAGATGA

altered gDNA sequence snippet

ATGCTATGATTCCATGATACAGATATGGAAAGTTGAGATGA

original cDNA sequence snippet

ATGCTATGATTCCATGATACGGATATGGAAAGTTGAGATGA

altered cDNA sequence snippet

ATGCTATGATTCCATGATACAGATATGGAAAGTTGAGATGA

wildtype AA sequence

MPTAESEAKV KTKVRFEELL KTHSDLMREK KKLKKKLVRS EENISPDTIR SNLHYMKETT
SDDPDTIRSN LPHIKETTSD DVSAANTNNL KKSTRVTKNK LRNTQLATEN PNGDASVEED
KQGKPNKKVI KTVPQLTTQD LKPETPENKV DSTHQKTHTK PQPGVDHQKS EKANEGREET
DLEEDEELMQ AYQCHVTEEM AKEIKRKIRK KLKEQLTYFP SDTLFHDDKL SSEKRKKKKE
VPVFSKAETS TLTISGDTVE GEQKKESSVR SVSSDSHQDD EISSMEQSTE DSMQDDTKPK
PKKTKKKTKA VADNNEDVDG DGVHEITSRD SPVYPKCLLD DDLVLGVYIH RTDRLKSDFM
ISHPMVKIHV VDEHTGQYVK KDDSGRPVSS YYEKENVDYI LPIMTQPYDF KQLKSRLPEW
EEQIVFNENF PYLLRGSDES PKVILFFEIL DFLSVDEIKN NSEVQNQECG FRKIAWAFLK
LLGANGNANI NSKLRLQLYY PPTKPRSPLS VVEAFEWWSK CPRNHYPSTL YVTVRGLKVP
DCIKPSYRSM MALQEEKGKP VHCERHHESS SVDTEPGLEE SKEVIKWKRL PGQACRIPNK
HLFSLNAGER GCFCLDFSHN GRILAAACAS RDGYPIILYE IPSGRFMREL CGHLNIIYDL
SWSKDDHYIL TSSSDGTARI WKNEINNTNT FRVLPHPSFV YTAKFHPAVR ELVVTGCYDS
MIRIWKVEMR EDSAILVRQF DVHKSFINSL CFDTEGHHMY SGDCTGVIVV WNTYVKINDL
EHSVHHWTIN KEIKETEFKG IPISYLEIHP NGKRLLIHTK DSTLRIMDLR ILVARKFVGA
ANYREKIHST LTPCGTFLFA GSEDGIVYVW NPETGEQVAM YSDLPFKSPI RDISYHPFEN
MVAFCAFGQN EPILLYIYDF HVAQQEAEMF KRYNGTFPLP GIHQSQDALC TCPKLPHQGS
FQIDEFVHTE SSSTKMQLVK QRLETVTEVI RSCAAKVNKN LSFTSPPAVS SQQSKLKQSN
MLTAQEILHQ FGFTQTGIIS IERKPCNHQV DTAPTVVALY DYTANRSDEL TIHRGDIIRV
FFKDNEDWWY GSIGKGQEGY FPANHVASET LYQELPPEIK ERSPPLSPEE KTKIEKSPAP
QKQSINKNKS QDFRLGSESM THSEMRKEQS HEDQGHIMDT RMRKNKQAGR KVTLIE*

mutated AA sequence

MPTAESEAKV KTKVRFEELL KTHSDLMREK KKLKKKLVRS EENISPDTIR SNLHYMKETT
SDDPDTIRSN LPHIKETTSD DVSAANTNNL KKSTRVTKNK LRNTQLATEN PNGDASVEED
KQGKPNKKVI KTVPQLTTQD LKPETPENKV DSTHQKTHTK PQPGVDHQKS EKANEGREET
DLEEDEELMQ AYQCHVTEEM AKEIKRKIRK KLKEQLTYFP SDTLFHDDKL SSEKRKKKKE
VPVFSKAETS TLTISGDTVE GEQKKESSVR SVSSDSHQDD EISSMEQSTE DSMQDDTKPK
PKKTKKKTKA VADNNEDVDG DGVHEITSRD SPVYPKCLLD DDLVLGVYIH RTDRLKSDFM
ISHPMVKIHV VDEHTGQYVK KDDSGRPVSS YYEKENVDYI LPIMTQPYDF KQLKSRLPEW
EEQIVFNENF PYLLRGSDES PKVILFFEIL DFLSVDEIKN NSEVQNQECG FRKIAWAFLK
LLGANGNANI NSKLRLQLYY PPTKPRSPLS VVEAFEWWSK CPRNHYPSTL YVTVRGLKVP
DCIKPSYRSM MALQEEKGKP VHCERHHESS SVDTEPGLEE SKEVIKWKRL PGQACRIPNK
HLFSLNAGER GCFCLDFSHN GRILAAACAS RDGYPIILYE IPSGRFMREL CGHLNIIYDL
SWSKDDHYIL TSSSDGTARI WKNEINNTNT FRVLPHPSFV YTAKFHPAVR ELVVTGCYDS
MIQIWKVEMR EDSAILVRQF DVHKSFINSL CFDTEGHHMY SGDCTGVIVV WNTYVKINDL
EHSVHHWTIN KEIKETEFKG IPISYLEIHP NGKRLLIHTK DSTLRIMDLR ILVARKFVGA
ANYREKIHST LTPCGTFLFA GSEDGIVYVW NPETGEQVAM YSDLPFKSPI RDISYHPFEN
MVAFCAFGQN EPILLYIYDF HVAQQEAEMF KRYNGTFPLP GIHQSQDALC TCPKLPHQGS
FQIDEFVHTE SSSTKMQLVK QRLETVTEVI RSCAAKVNKN LSFTSPPAVS SQQSKLKQSN
MLTAQEILHQ FGFTQTGIIS IERKPCNHQV DTAPTVVALY DYTANRSDEL TIHRGDIIRV
FFKDNEDWWY GSIGKGQEGY FPANHVASET LYQELPPEIK ERSPPLSPEE KTKIEKSPAP
QKQSINKNKS QDFRLGSESM THSEMRKEQS HEDQGHIMDT RMRKNKQAGR KVTLIE*

speed

1.16 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999993445248412 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM060807)
known disease mutation: rs2015 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:135754263C>TN/A show variant in all transcripts IGV

HGNC symbol

AHI1

Ensembl transcript ID

ENST00000457866

Genbank transcript ID

NM_017651

UniProt peptide

Q8N157

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2168G>A
cDNA.2467G>A
g.64652G>A

AA changes

R723Q Score: 43 explain score(s)

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

723

frameshift

known variant

Reference ID: rs121434351

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	5	5

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.244	0.997
	5.781	1
(flanking)	1.348	0.992

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	64652	wt: 0.9687 / mu: 0.9952 (marginal change - not scored)	wt: GATACGGATATGGAA mu: GATACAGATATGGAA	TACG\|gata

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

723

mutated

all conserved

723

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000009368

721

Fcatus

all identical

ENSFCAG00000001813

715

Mmusculus

all identical

ENSMUSG00000019986

573

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000044056

660

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000003723

723

protein features

start (aa)	end (aa)	feature	details
695	735	REPEAT	WD 3.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3591 / 3591

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

1197 / 1197

position of stopcodon in wt / mu cDNA

3890 / 3890

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

300 / 300

chromosome

strand

-1

last intron/exon boundary

3888

theoretical NMD boundary in CDS

3538

length of CDS

3591

coding sequence (CDS) position

2168

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

2467

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

64652

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

135754263

original gDNA sequence snippet

ATGCTATGATTCCATGATACGGATATGGAAAGTTGAGATGA

altered gDNA sequence snippet

ATGCTATGATTCCATGATACAGATATGGAAAGTTGAGATGA

original cDNA sequence snippet

ATGCTATGATTCCATGATACGGATATGGAAAGTTGAGATGA

altered cDNA sequence snippet

ATGCTATGATTCCATGATACAGATATGGAAAGTTGAGATGA

wildtype AA sequence

mutated AA sequence

MPTAESEAKV KTKVRFEELL KTHSDLMREK KKLKKKLVRS EENISPDTIR SNLHYMKETT
SDDPDTIRSN LPHIKETTSD DVSAANTNNL KKSTRVTKNK LRNTQLATEN PNGDASVEED
KQGKPNKKVI KTVPQLTTQD LKPETPENKV DSTHQKTHTK PQPGVDHQKS EKANEGREET
DLEEDEELMQ AYQCHVTEEM AKEIKRKIRK KLKEQLTYFP SDTLFHDDKL SSEKRKKKKE
VPVFSKAETS TLTISGDTVE GEQKKESSVR SVSSDSHQDD EISSMEQSTE DSMQDDTKPK
PKKTKKKTKA VADNNEDVDG DGVHEITSRD SPVYPKCLLD DDLVLGVYIH RTDRLKSDFM
ISHPMVKIHV VDEHTGQYVK KDDSGRPVSS YYEKENVDYI LPIMTQPYDF KQLKSRLPEW
EEQIVFNENF PYLLRGSDES PKVILFFEIL DFLSVDEIKN NSEVQNQECG FRKIAWAFLK
LLGANGNANI NSKLRLQLYY PPTKPRSPLS VVEAFEWWSK CPRNHYPSTL YVTVRGLKVP
DCIKPSYRSM MALQEEKGKP VHCERHHESS SVDTEPGLEE SKEVIKWKRL PGQACRIPNK
HLFSLNAGER GCFCLDFSHN GRILAAACAS RDGYPIILYE IPSGRFMREL CGHLNIIYDL
SWSKDDHYIL TSSSDGTARI WKNEINNTNT FRVLPHPSFV YTAKFHPAVR ELVVTGCYDS
MIQIWKVEMR EDSAILVRQF DVHKSFINSL CFDTEGHHMY SGDCTGVIVV WNTYVKINDL
EHSVHHWTIN KEIKETEFKG IPISYLEIHP NGKRLLIHTK DSTLRIMDLR ILVARKFVGA
ANYREKIHST LTPCGTFLFA GSEDGIVYVW NPETGEQVAM YSDLPFKSPI RDISYHPFEN
MVAFCAFGQN EPILLYIYDF HVAQQEAEMF KRYNGTFPLP GIHQSQDALC TCPKLPHQGS
FQIDEFVHTE SSSTKMQLVK QRLETVTEVI RSCAAKVNKN LSFTSPPAVS SQQSKLKQSN
MLTAQEILHQ FGFTQTGIIS IERKPCNHQV DTAPTVVALY DYTANRSDEL TIHRGDIIRV
FFKDNEDWWY GSIGKGQEGY FPANHVASET LYQELPPEIK ERSPPLSPEE KTKIEKSPAP
QKQSINKNKS QDFRLGSESM THSEMRKEQS HEDQGHIMDT RMRKNKQAGR KVTLIE*

speed

0.90 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999993445248412 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM060807)
known disease mutation: rs2015 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:135754263C>TN/A show variant in all transcripts IGV

HGNC symbol

AHI1

Ensembl transcript ID

ENST00000265602

Genbank transcript ID

N/A

UniProt peptide

Q8N157

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2168G>A
cDNA.2563G>A
g.64652G>A

AA changes

R723Q Score: 43 explain score(s)

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

723

frameshift

known variant

Reference ID: rs121434351

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	5	5

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.244	0.997
	5.781	1
(flanking)	1.348	0.992

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	64652	wt: 0.9687 / mu: 0.9952 (marginal change - not scored)	wt: GATACGGATATGGAA mu: GATACAGATATGGAA	TACG\|gata

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

723

mutated

all conserved

723

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000009368

721

Fcatus

all identical

ENSFCAG00000001813

715

Mmusculus

all identical

ENSMUSG00000019986

573

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000044056

660

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000003723

723

protein features

start (aa)	end (aa)	feature	details
695	735	REPEAT	WD 3.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3591 / 3591

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

1197 / 1197

position of stopcodon in wt / mu cDNA

3986 / 3986

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

396 / 396

chromosome

strand

-1

last intron/exon boundary

3984

theoretical NMD boundary in CDS

3538

length of CDS

3591

coding sequence (CDS) position

2168

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

2563

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

64652

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

135754263

original gDNA sequence snippet

ATGCTATGATTCCATGATACGGATATGGAAAGTTGAGATGA

altered gDNA sequence snippet

ATGCTATGATTCCATGATACAGATATGGAAAGTTGAGATGA

original cDNA sequence snippet

ATGCTATGATTCCATGATACGGATATGGAAAGTTGAGATGA

altered cDNA sequence snippet

ATGCTATGATTCCATGATACAGATATGGAAAGTTGAGATGA

wildtype AA sequence

mutated AA sequence

MPTAESEAKV KTKVRFEELL KTHSDLMREK KKLKKKLVRS EENISPDTIR SNLHYMKETT
SDDPDTIRSN LPHIKETTSD DVSAANTNNL KKSTRVTKNK LRNTQLATEN PNGDASVEED
KQGKPNKKVI KTVPQLTTQD LKPETPENKV DSTHQKTHTK PQPGVDHQKS EKANEGREET
DLEEDEELMQ AYQCHVTEEM AKEIKRKIRK KLKEQLTYFP SDTLFHDDKL SSEKRKKKKE
VPVFSKAETS TLTISGDTVE GEQKKESSVR SVSSDSHQDD EISSMEQSTE DSMQDDTKPK
PKKTKKKTKA VADNNEDVDG DGVHEITSRD SPVYPKCLLD DDLVLGVYIH RTDRLKSDFM
ISHPMVKIHV VDEHTGQYVK KDDSGRPVSS YYEKENVDYI LPIMTQPYDF KQLKSRLPEW
EEQIVFNENF PYLLRGSDES PKVILFFEIL DFLSVDEIKN NSEVQNQECG FRKIAWAFLK
LLGANGNANI NSKLRLQLYY PPTKPRSPLS VVEAFEWWSK CPRNHYPSTL YVTVRGLKVP
DCIKPSYRSM MALQEEKGKP VHCERHHESS SVDTEPGLEE SKEVIKWKRL PGQACRIPNK
HLFSLNAGER GCFCLDFSHN GRILAAACAS RDGYPIILYE IPSGRFMREL CGHLNIIYDL
SWSKDDHYIL TSSSDGTARI WKNEINNTNT FRVLPHPSFV YTAKFHPAVR ELVVTGCYDS
MIQIWKVEMR EDSAILVRQF DVHKSFINSL CFDTEGHHMY SGDCTGVIVV WNTYVKINDL
EHSVHHWTIN KEIKETEFKG IPISYLEIHP NGKRLLIHTK DSTLRIMDLR ILVARKFVGA
ANYREKIHST LTPCGTFLFA GSEDGIVYVW NPETGEQVAM YSDLPFKSPI RDISYHPFEN
MVAFCAFGQN EPILLYIYDF HVAQQEAEMF KRYNGTFPLP GIHQSQDALC TCPKLPHQGS
FQIDEFVHTE SSSTKMQLVK QRLETVTEVI RSCAAKVNKN LSFTSPPAVS SQQSKLKQSN
MLTAQEILHQ FGFTQTGIIS IERKPCNHQV DTAPTVVALY DYTANRSDEL TIHRGDIIRV
FFKDNEDWWY GSIGKGQEGY FPANHVASET LYQELPPEIK ERSPPLSPEE KTKIEKSPAP
QKQSINKNKS QDFRLGSESM THSEMRKEQS HEDQGHIMDT RMRKNKQAGR KVTLIE*

speed

1.19 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999993445248412 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM060807)
known disease mutation: rs2015 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:135754263C>TN/A show variant in all transcripts IGV

HGNC symbol

AHI1

Ensembl transcript ID

ENST00000327035

Genbank transcript ID

NM_001134832

UniProt peptide

Q8N157

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2168G>A
cDNA.2447G>A
g.64652G>A

AA changes

R723Q Score: 43 explain score(s)

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

723

frameshift

known variant

Reference ID: rs121434351

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	5	5

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.244	0.997
	5.781	1
(flanking)	1.348	0.992

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	64652	wt: 0.9687 / mu: 0.9952 (marginal change - not scored)	wt: GATACGGATATGGAA mu: GATACAGATATGGAA	TACG\|gata

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

723

mutated

all conserved

723

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000009368

721

Fcatus

all identical

ENSFCAG00000001813

715

Mmusculus

all identical

ENSMUSG00000019986

573

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000044056

660

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000003723

723

protein features

start (aa)	end (aa)	feature	details
695	735	REPEAT	WD 3.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3162 / 3162

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

1054 / 1054

position of stopcodon in wt / mu cDNA

3441 / 3441

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

280 / 280

chromosome

strand

-1

last intron/exon boundary

3389

theoretical NMD boundary in CDS

3059

length of CDS

3162

coding sequence (CDS) position

2168

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

2447

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

64652

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

135754263

original gDNA sequence snippet

ATGCTATGATTCCATGATACGGATATGGAAAGTTGAGATGA

altered gDNA sequence snippet

ATGCTATGATTCCATGATACAGATATGGAAAGTTGAGATGA

original cDNA sequence snippet

ATGCTATGATTCCATGATACGGATATGGAAAGTTGAGATGA

altered cDNA sequence snippet

ATGCTATGATTCCATGATACAGATATGGAAAGTTGAGATGA

wildtype AA sequence

mutated AA sequence

MPTAESEAKV KTKVRFEELL KTHSDLMREK KKLKKKLVRS EENISPDTIR SNLHYMKETT
SDDPDTIRSN LPHIKETTSD DVSAANTNNL KKSTRVTKNK LRNTQLATEN PNGDASVEED
KQGKPNKKVI KTVPQLTTQD LKPETPENKV DSTHQKTHTK PQPGVDHQKS EKANEGREET
DLEEDEELMQ AYQCHVTEEM AKEIKRKIRK KLKEQLTYFP SDTLFHDDKL SSEKRKKKKE
VPVFSKAETS TLTISGDTVE GEQKKESSVR SVSSDSHQDD EISSMEQSTE DSMQDDTKPK
PKKTKKKTKA VADNNEDVDG DGVHEITSRD SPVYPKCLLD DDLVLGVYIH RTDRLKSDFM
ISHPMVKIHV VDEHTGQYVK KDDSGRPVSS YYEKENVDYI LPIMTQPYDF KQLKSRLPEW
EEQIVFNENF PYLLRGSDES PKVILFFEIL DFLSVDEIKN NSEVQNQECG FRKIAWAFLK
LLGANGNANI NSKLRLQLYY PPTKPRSPLS VVEAFEWWSK CPRNHYPSTL YVTVRGLKVP
DCIKPSYRSM MALQEEKGKP VHCERHHESS SVDTEPGLEE SKEVIKWKRL PGQACRIPNK
HLFSLNAGER GCFCLDFSHN GRILAAACAS RDGYPIILYE IPSGRFMREL CGHLNIIYDL
SWSKDDHYIL TSSSDGTARI WKNEINNTNT FRVLPHPSFV YTAKFHPAVR ELVVTGCYDS
MIQIWKVEMR EDSAILVRQF DVHKSFINSL CFDTEGHHMY SGDCTGVIVV WNTYVKINDL
EHSVHHWTIN KEIKETEFKG IPISYLEIHP NGKRLLIHTK DSTLRIMDLR ILVARKFVGA
ANYREKIHST LTPCGTFLFA GSEDGIVYVW NPETGEQVAM YSDLPFKSPI RDISYHPFEN
MVAFCAFGQN EPILLYIYDF HVAQQEAEMF KRYNGTFPLP GIHQSQDALC TCPKLPHQGS
FQIDEFVHTE SSSTKMQLVK QRLETVTEVI RSCAAKVNKN LSFTSPPAVS SQQSKLKQSN
MLTAQEILHQ FGFTQTDSHF AEFNTCILWW KKH*

speed

1.16 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems