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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000268057
Querying Taster for transcript #2: ENST00000395205
Querying Taster for transcript #3: ENST00000539603
Querying Taster for transcript #4: ENST00000542334
MT speed 0 s - this script 6.042007 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
BBS4	disease_causing_automatic	0.999999998964104	simple_aae		affected	0	A372E	single base exchange	rs28938468		show file
BBS4	disease_causing_automatic	0.999999999233087	simple_aae		affected	0	A364E	single base exchange	rs28938468		show file
BBS4	disease_causing_automatic	0.999999999233087	simple_aae		affected	0	A352E	single base exchange	rs28938468		show file
BBS4	disease_causing_automatic	0.999999999233087	simple_aae		affected	0	A192E	single base exchange	rs28938468		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999998964104 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM021494)
known disease mutation: rs9148 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr15:73027508C>AN/A show variant in all transcripts IGV

HGNC symbol

BBS4

Ensembl transcript ID

ENST00000395205

Genbank transcript ID

N/A

UniProt peptide

Q96RK4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1115C>A
cDNA.1115C>A
g.48982C>A

AA changes

A372E Score: 107 explain score(s)

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

372

frameshift

known variant

Reference ID: rs28938468
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs9148 (pathogenic for Bardet-Biedl syndrome 4) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM021494)

known disease mutation at this position, please check HGMD for details (HGMD ID CM021494)
known disease mutation at this position, please check HGMD for details (HGMD ID CM021494)

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.137	1
	5.954	1
(flanking)	-2.698	0.001

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 increased	48978	wt: 0.21 / mu: 0.99	wt: ACGCAGAAGCAGTCC mu: ACGCAGAAGAAGTCC	GCAG\|aagc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

372

mutated

not conserved

372

Ptroglodytes

all identical

ENSPTRG00000007255

372

Mmulatta

all identical

ENSMMUG00000013685

364

Fcatus

no alignment

ENSFCAG00000012249

n/a

Mmusculus

all identical

ENSMUSG00000025235

364

Ggallus

all identical

ENSGALG00000001798

342

Trubripes

no homologue

Drerio

all identical

ENSDARG00000063522

364

Dmelanogaster

all identical

FBgn0033578

377

AFVAL

Celegans

all conserved

F58A4.14

395

Xtropicalis

all identical

ENSXETG00000005200

364

protein features

start (aa)	end (aa)	feature	details
338	519	REGION	Required for localization to centrosomes.	lost
339	371	REPEAT	TPR 9.	might get lost (downstream of altered splice site)
373	408	REPEAT	TPR 10.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1584 / 1584

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

528 / 528

position of stopcodon in wt / mu cDNA

1584 / 1584

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

1 / 1

chromosome

strand

last intron/exon boundary

1475

theoretical NMD boundary in CDS

1424

length of CDS

1584

coding sequence (CDS) position

1115

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

1115

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

48982

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

73027508

original gDNA sequence snippet

CAAGAGAGCCTACGCAGAAGCAGTCCACCTGGATAAGTATG

altered gDNA sequence snippet

CAAGAGAGCCTACGCAGAAGAAGTCCACCTGGATAAGTATG

original cDNA sequence snippet

CAAGAGAGCCTACGCAGAAGCAGTCCACCTGGATAAGTGTA

altered cDNA sequence snippet

CAAGAGAGCCTACGCAGAAGAAGTCCACCTGGATAAGTGTA

wildtype AA sequence

MALTVVPSFS VSGVWKRTQF PVSTESQKPR QKKAPEFPIL EKQNWLIHLH YIRKDYEACK
AVIKEQLQET QGLCEYAIYV QALIFRLEGN IQESLELFQT CAVLSPQSAD NLKQVARSLF
LLGKHKAAIE VYNEAAKLNQ KDWEISHNLG VCYIYLKQFN KAQDQLHNAL NLNRHDLTYI
MLGKIHLLEG DLDKAIEVYK KAVEFSPENT ELLTTLGLLY LQLGIYQKAF EHLGNALTYD
PTNYKAILAA GSMMQTHGDF DVALTKYRVV ACAVPESPPL WNNIGMCFFG KKKYVAAISC
LKRANYLAPF DWKILYNLGL VHLTMQQYAS AFHFLSAAIN FQPKMGELYM LLAVALTNLE
DIENAKRAYA EAVHLDKCNP LVNLNYAVLL YNQGEKKNAL AQYQEMEKKV SLLKDNSSLE
FDSEMVEMAQ KLGAALQVGE ALVWTKPVKD PKSKHQTTST SKPASFQQPL GSNQALGQAM
SSAAAYRTLP SGAGGTSQFT KPPSLPLEPE PAVESSPTET SEQIREK*

mutated AA sequence

MALTVVPSFS VSGVWKRTQF PVSTESQKPR QKKAPEFPIL EKQNWLIHLH YIRKDYEACK
AVIKEQLQET QGLCEYAIYV QALIFRLEGN IQESLELFQT CAVLSPQSAD NLKQVARSLF
LLGKHKAAIE VYNEAAKLNQ KDWEISHNLG VCYIYLKQFN KAQDQLHNAL NLNRHDLTYI
MLGKIHLLEG DLDKAIEVYK KAVEFSPENT ELLTTLGLLY LQLGIYQKAF EHLGNALTYD
PTNYKAILAA GSMMQTHGDF DVALTKYRVV ACAVPESPPL WNNIGMCFFG KKKYVAAISC
LKRANYLAPF DWKILYNLGL VHLTMQQYAS AFHFLSAAIN FQPKMGELYM LLAVALTNLE
DIENAKRAYA EEVHLDKCNP LVNLNYAVLL YNQGEKKNAL AQYQEMEKKV SLLKDNSSLE
FDSEMVEMAQ KLGAALQVGE ALVWTKPVKD PKSKHQTTST SKPASFQQPL GSNQALGQAM
SSAAAYRTLP SGAGGTSQFT KPPSLPLEPE PAVESSPTET SEQIREK*

speed

1.38 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: 0.999999999233087 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM021494)
known disease mutation: rs9148 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr15:73027508C>AN/A show variant in all transcripts IGV

HGNC symbol

BBS4

Ensembl transcript ID

ENST00000268057

Genbank transcript ID

NM_001252678

UniProt peptide

Q96RK4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1091C>A
cDNA.1132C>A
g.48982C>A

AA changes

A364E Score: 107 explain score(s)

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

364

frameshift

known variant

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.137	1
	5.954	1
(flanking)	-2.698	0.001

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 increased	48978	wt: 0.21 / mu: 0.99	wt: ACGCAGAAGCAGTCC mu: ACGCAGAAGAAGTCC	GCAG\|aagc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

364

mutated

not conserved

364

Ptroglodytes

all identical

ENSPTRG00000007255

372

Mmulatta

all identical

ENSMMUG00000013685

364

Fcatus

no alignment

ENSFCAG00000012249

n/a

Mmusculus

all identical

ENSMUSG00000025235

364

Ggallus

all identical

ENSGALG00000001798

342

Trubripes

no homologue

Drerio

all identical

ENSDARG00000063522

364

Dmelanogaster

all identical

FBgn0033578

377

AFVAL

Celegans

all conserved

F58A4.14

395

Xtropicalis

all identical

ENSXETG00000005200

364

protein features

start (aa)	end (aa)	feature	details
338	519	REGION	Required for localization to centrosomes.	lost
339	371	REPEAT	TPR 9.	lost
373	408	REPEAT	TPR 10.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1560 / 1560

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

520 / 520

position of stopcodon in wt / mu cDNA

1601 / 1601

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

42 / 42

chromosome

strand

last intron/exon boundary

1492

theoretical NMD boundary in CDS

1400

length of CDS

1560

coding sequence (CDS) position

1091

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

1132

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

48982

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

73027508

original gDNA sequence snippet

CAAGAGAGCCTACGCAGAAGCAGTCCACCTGGATAAGTATG

altered gDNA sequence snippet

CAAGAGAGCCTACGCAGAAGAAGTCCACCTGGATAAGTATG

original cDNA sequence snippet

CAAGAGAGCCTACGCAGAAGCAGTCCACCTGGATAAGTGTA

altered cDNA sequence snippet

CAAGAGAGCCTACGCAGAAGAAGTCCACCTGGATAAGTGTA

wildtype AA sequence

MAEERVATRT QFPVSTESQK PRQKKAPEFP ILEKQNWLIH LHYIRKDYEA CKAVIKEQLQ
ETQGLCEYAI YVQALIFRLE GNIQESLELF QTCAVLSPQS ADNLKQVARS LFLLGKHKAA
IEVYNEAAKL NQKDWEISHN LGVCYIYLKQ FNKAQDQLHN ALNLNRHDLT YIMLGKIHLL
EGDLDKAIEV YKKAVEFSPE NTELLTTLGL LYLQLGIYQK AFEHLGNALT YDPTNYKAIL
AAGSMMQTHG DFDVALTKYR VVACAVPESP PLWNNIGMCF FGKKKYVAAI SCLKRANYLA
PFDWKILYNL GLVHLTMQQY ASAFHFLSAA INFQPKMGEL YMLLAVALTN LEDIENAKRA
YAEAVHLDKC NPLVNLNYAV LLYNQGEKKN ALAQYQEMEK KVSLLKDNSS LEFDSEMVEM
AQKLGAALQV GEALVWTKPV KDPKSKHQTT STSKPASFQQ PLGSNQALGQ AMSSAAAYRT
LPSGAGGTSQ FTKPPSLPLE PEPAVESSPT ETSEQIREK*

mutated AA sequence

MAEERVATRT QFPVSTESQK PRQKKAPEFP ILEKQNWLIH LHYIRKDYEA CKAVIKEQLQ
ETQGLCEYAI YVQALIFRLE GNIQESLELF QTCAVLSPQS ADNLKQVARS LFLLGKHKAA
IEVYNEAAKL NQKDWEISHN LGVCYIYLKQ FNKAQDQLHN ALNLNRHDLT YIMLGKIHLL
EGDLDKAIEV YKKAVEFSPE NTELLTTLGL LYLQLGIYQK AFEHLGNALT YDPTNYKAIL
AAGSMMQTHG DFDVALTKYR VVACAVPESP PLWNNIGMCF FGKKKYVAAI SCLKRANYLA
PFDWKILYNL GLVHLTMQQY ASAFHFLSAA INFQPKMGEL YMLLAVALTN LEDIENAKRA
YAEEVHLDKC NPLVNLNYAV LLYNQGEKKN ALAQYQEMEK KVSLLKDNSS LEFDSEMVEM
AQKLGAALQV GEALVWTKPV KDPKSKHQTT STSKPASFQQ PLGSNQALGQ AMSSAAAYRT
LPSGAGGTSQ FTKPPSLPLE PEPAVESSPT ETSEQIREK*

speed

1.29 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999233087 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM021494)
known disease mutation: rs9148 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr15:73027508C>AN/A show variant in all transcripts IGV

HGNC symbol

BBS4

Ensembl transcript ID

ENST00000539603

Genbank transcript ID

N/A

UniProt peptide

Q96RK4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1055C>A
cDNA.1170C>A
g.48982C>A

AA changes

A352E Score: 107 explain score(s)

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

352

frameshift

known variant

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.137	1
	5.954	1
(flanking)	-2.698	0.001

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 increased	48978	wt: 0.21 / mu: 0.99	wt: ACGCAGAAGCAGTCC mu: ACGCAGAAGAAGTCC	GCAG\|aagc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

352

mutated

not conserved

352

Ptroglodytes

all identical

ENSPTRG00000007255

372

Mmulatta

all identical

ENSMMUG00000013685

364

Fcatus

no alignment

ENSFCAG00000012249

n/a

Mmusculus

all identical

ENSMUSG00000025235

364

Ggallus

all identical

ENSGALG00000001798

342

Trubripes

no homologue

Drerio

all identical

ENSDARG00000063522

364

Dmelanogaster

all identical

FBgn0033578

377

AFVAL

Celegans

all conserved

F58A4.14

395

Xtropicalis

all identical

ENSXETG00000005200

364

protein features

start (aa)	end (aa)	feature	details
338	519	REGION	Required for localization to centrosomes.	lost
339	371	REPEAT	TPR 9.	lost
373	408	REPEAT	TPR 10.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1524 / 1524

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

508 / 508

position of stopcodon in wt / mu cDNA

1639 / 1639

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

116 / 116

chromosome

strand

last intron/exon boundary

1530

theoretical NMD boundary in CDS

1364

length of CDS

1524

coding sequence (CDS) position

1055

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

1170

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

48982

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

73027508

original gDNA sequence snippet

CAAGAGAGCCTACGCAGAAGCAGTCCACCTGGATAAGTATG

altered gDNA sequence snippet

CAAGAGAGCCTACGCAGAAGAAGTCCACCTGGATAAGTATG

original cDNA sequence snippet

CAAGAGAGCCTACGCAGAAGCAGTCCACCTGGATAAGTGTA

altered cDNA sequence snippet

CAAGAGAGCCTACGCAGAAGAAGTCCACCTGGATAAGTGTA

wildtype AA sequence

MIWNTRNSTY IFTAPEFPIL EKQNWLIHLH YIRKDYEACK AVIKEQLQET QGLCEYAIYV
QALIFRLEGN IQESLELFQT CAVLSPQSAD NLKQVARSLF LLGKHKAAIE VYNEAAKLNQ
KDWEISHNLG VCYIYLKQFN KAQDQLHNAL NLNRHDLTYI MLGKIHLLEG DLDKAIEVYK
KAVEFSPENT ELLTTLGLLY LQLGIYQKAF EHLGNALTYD PTNYKAILAA GSMMQTHGDF
DVALTKYRVV ACAVPESPPL WNNIGMCFFG KKKYVAAISC LKRANYLAPF DWKILYNLGL
VHLTMQQYAS AFHFLSAAIN FQPKMGELYM LLAVALTNLE DIENAKRAYA EAVHLDKCNP
LVNLNYAVLL YNQGEKKNAL AQYQEMEKKV SLLKDNSSLE FDSEMVEMAQ KLGAALQVGE
ALVWTKPVKD PKSKHQTTST SKPASFQQPL GSNQALGQAM SSAAAYRTLP SGAGGTSQFT
KPPSLPLEPE PAVESSPTET SEQIREK*

mutated AA sequence

MIWNTRNSTY IFTAPEFPIL EKQNWLIHLH YIRKDYEACK AVIKEQLQET QGLCEYAIYV
QALIFRLEGN IQESLELFQT CAVLSPQSAD NLKQVARSLF LLGKHKAAIE VYNEAAKLNQ
KDWEISHNLG VCYIYLKQFN KAQDQLHNAL NLNRHDLTYI MLGKIHLLEG DLDKAIEVYK
KAVEFSPENT ELLTTLGLLY LQLGIYQKAF EHLGNALTYD PTNYKAILAA GSMMQTHGDF
DVALTKYRVV ACAVPESPPL WNNIGMCFFG KKKYVAAISC LKRANYLAPF DWKILYNLGL
VHLTMQQYAS AFHFLSAAIN FQPKMGELYM LLAVALTNLE DIENAKRAYA EEVHLDKCNP
LVNLNYAVLL YNQGEKKNAL AQYQEMEKKV SLLKDNSSLE FDSEMVEMAQ KLGAALQVGE
ALVWTKPVKD PKSKHQTTST SKPASFQQPL GSNQALGQAM SSAAAYRTLP SGAGGTSQFT
KPPSLPLEPE PAVESSPTET SEQIREK*

speed

1.29 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999233087 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM021494)
known disease mutation: rs9148 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr15:73027508C>AN/A show variant in all transcripts IGV

HGNC symbol

BBS4

Ensembl transcript ID

ENST00000542334

Genbank transcript ID

N/A

UniProt peptide

Q96RK4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.575C>A
cDNA.1086C>A
g.48982C>A

AA changes

A192E Score: 107 explain score(s)

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

192

frameshift

known variant

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.137	1
	5.954	1
(flanking)	-2.698	0.001

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 increased	48978	wt: 0.21 / mu: 0.99	wt: ACGCAGAAGCAGTCC mu: ACGCAGAAGAAGTCC	GCAG\|aagc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

192

mutated

not conserved

192

Ptroglodytes

all identical

ENSPTRG00000007255

372

Mmulatta

all identical

ENSMMUG00000013685

364

Fcatus

no alignment

ENSFCAG00000012249

n/a

Mmusculus

all identical

ENSMUSG00000025235

364

Ggallus

all identical

ENSGALG00000001798

342

Trubripes

no homologue

Drerio

all identical

ENSDARG00000063522

364

Dmelanogaster

all identical

FBgn0033578

377

AFVAL

AGR

Celegans

all conserved

F58A4.14

395

Xtropicalis

all identical

ENSXETG00000005200

364

protein features

start (aa)	end (aa)	feature	details
101	337	REGION	Interaction with PCM1.	lost
169	201	REPEAT	TPR 4.	lost
203	235	REPEAT	TPR 5.	might get lost (downstream of altered splice site)
237	269	REPEAT	TPR 6.	might get lost (downstream of altered splice site)
270	303	REPEAT	TPR 7.	might get lost (downstream of altered splice site)
304	337	REPEAT	TPR 8.	might get lost (downstream of altered splice site)
338	519	REGION	Required for localization to centrosomes.	might get lost (downstream of altered splice site)
339	371	REPEAT	TPR 9.	might get lost (downstream of altered splice site)
373	408	REPEAT	TPR 10.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1044 / 1044

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

348 / 348

position of stopcodon in wt / mu cDNA

1555 / 1555

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

512 / 512

chromosome

strand

last intron/exon boundary

1446

theoretical NMD boundary in CDS

884

length of CDS

1044

coding sequence (CDS) position

575

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

1086

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

48982

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

73027508

original gDNA sequence snippet

CAAGAGAGCCTACGCAGAAGCAGTCCACCTGGATAAGTATG

altered gDNA sequence snippet

CAAGAGAGCCTACGCAGAAGAAGTCCACCTGGATAAGTATG

original cDNA sequence snippet

CAAGAGAGCCTACGCAGAAGCAGTCCACCTGGATAAGTGTA

altered cDNA sequence snippet

CAAGAGAGCCTACGCAGAAGAAGTCCACCTGGATAAGTGTA

wildtype AA sequence

MLGKIHLLEG DLDKAIEVYK KAVEFSPENT ELLTTLGLLY LQLGIYQKAF EHLGNALTYD
PTNYKAILAA GSMMQTHGDF DVALTKYRVV ACAVPESPPL WNNIGMCFFG KKKYVAAISC
LKRANYLAPF DWKILYNLGL VHLTMQQYAS AFHFLSAAIN FQPKMGELYM LLAVALTNLE
DIENAKRAYA EAVHLDKCNP LVNLNYAVLL YNQGEKKNAL AQYQEMEKKV SLLKDNSSLE
FDSEMVEMAQ KLGAALQVGE ALVWTKPVKD PKSKHQTTST SKPASFQQPL GSNQALGQAM
SSAAAYRTLP SGAGGTSQFT KPPSLPLEPE PAVESSPTET SEQIREK*

mutated AA sequence

MLGKIHLLEG DLDKAIEVYK KAVEFSPENT ELLTTLGLLY LQLGIYQKAF EHLGNALTYD
PTNYKAILAA GSMMQTHGDF DVALTKYRVV ACAVPESPPL WNNIGMCFFG KKKYVAAISC
LKRANYLAPF DWKILYNLGL VHLTMQQYAS AFHFLSAAIN FQPKMGELYM LLAVALTNLE
DIENAKRAYA EEVHLDKCNP LVNLNYAVLL YNQGEKKNAL AQYQEMEKKV SLLKDNSSLE
FDSEMVEMAQ KLGAALQVGE ALVWTKPVKD PKSKHQTTST SKPASFQQPL GSNQALGQAM
SSAAAYRTLP SGAGGTSQFT KPPSLPLEPE PAVESSPTET SEQIREK*

speed

1.29 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

Problems