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: ENST00000419755
Querying Taster for transcript #2: ENST00000318312
Querying Taster for transcript #3: ENST00000455748
Querying Taster for transcript #4: ENST00000393994
Querying Taster for transcript #5: ENST00000526986
MT speed 0 s - this script 4.308723 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
BBS1	disease_causing_automatic	0.999247821036729	simple_aae			0	L518P	single base exchange	rs121917778		show file
BBS1	disease_causing_automatic	0.999247821036729	simple_aae			0	L421P	single base exchange	rs121917778		show file
BBS1	disease_causing_automatic	0.999247821036729	simple_aae			0	L389P	single base exchange	rs121917778		show file
ZDHHC24	disease_causing_automatic	0.999999999860697	without_aae		affected	0		single base exchange	rs121917778		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999247821036729 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM030410)
known disease mutation at this position (HGMD CM031138)
known disease mutation: rs12147 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:66298444T>CN/A show variant in all transcripts IGV

HGNC symbol

BBS1

Ensembl transcript ID

ENST00000318312

Genbank transcript ID

NM_024649

UniProt peptide

Q8NFJ9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1553T>C
cDNA.1604T>C
g.20368T>C

AA changes

L518P Score: 98 explain score(s)

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

518

frameshift

known variant

Reference ID: rs121917778

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	2	2

known disease mutation: rs12147 (pathogenic for Retinal dystrophy|Bardet-Biedl syndrome 1|Bardet-Biedl syndrome) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM030410)

known disease mutation at this position, please check HGMD for details (HGMD ID CM030410)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031138)

known disease mutation at this position, please check HGMD for details (HGMD ID CM030410)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031138)
known disease mutation at this position, please check HGMD for details (HGMD ID CM030410)

known disease mutation at this position, please check HGMD for details (HGMD ID CM030410)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031138)
known disease mutation at this position, please check HGMD for details (HGMD ID CM030410)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031138)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.055	0.951
	1.637	0.938
(flanking)	0.837	0.765

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	20369	wt: 0.4142 / mu: 0.4285 (marginal change - not scored)	wt: CGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACGA mu: CGTCCTGTCCTGGGGCTGCCGGTCTGCTTCCTGTACAACGA	gctg\|GTCT
Acc marginally increased	20361	wt: 0.8186 / mu: 0.8601 (marginal change - not scored)	wt: CAACAACCCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTG mu: CAACAACCCGTCCTGTCCTGGGGCTGCCGGTCTGCTTCCTG	ctgg\|GGCT
Acc marginally increased	20359	wt: 0.7044 / mu: 0.7462 (marginal change - not scored)	wt: CTCAACAACCCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCC mu: CTCAACAACCCGTCCTGTCCTGGGGCTGCCGGTCTGCTTCC	tcct\|GGGG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

518

mutated

not conserved

518

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000006464

518

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000004418

497

Drerio

not conserved

ENSDARG00000075169

513

Dmelanogaster

all conserved

FBgn0035741

522

Celegans

not conserved

Y105E8A.5

502

Xtropicalis

all identical

ENSXETG00000026165

510

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1782 / 1782

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

594 / 594

position of stopcodon in wt / mu cDNA

1833 / 1833

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

52 / 52

chromosome

strand

last intron/exon boundary

1747

theoretical NMD boundary in CDS

1645

length of CDS

1782

coding sequence (CDS) position

1553

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

1604

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

20368

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

66298444

original gDNA sequence snippet

CCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACG

altered gDNA sequence snippet

CCGTCCTGTCCTGGGGCTGCCGGTCTGCTTCCTGTACAACG

original cDNA sequence snippet

CCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACG

altered cDNA sequence snippet

CCGTCCTGTCCTGGGGCTGCCGGTCTGCTTCCTGTACAACG

wildtype AA sequence

MAAASSSDSD ACGAESNEAN SKWLDAHYDP MANIHTFSAC LALADLHGDG EYKLVVGDLG
PGGQQPRLKV LKGPLVMTES PLPALPAAAA TFLMEQHEPR TPALALASGP CVYVYKNLRP
YFKFSLPQLP PNPLEQDLWN QAKEDRIDPL TLKEMLESIR ETAEEPLSIQ SLRFLQLELS
EMEAFVNQHK SNSIKRQTVI TTMTTLKKNL ADEDAVSCLV LGTENKELLV LDPEAFTILA
KMSLPSVPVF LEVSGQFDVE FRLAAACRNG NIYILRRDSK HPKYCIELSA QPVGLIRVHK
VLVVGSTQDS LHGFTHKGKK LWTVQMPAAI LTMNLLEQHS RGLQAVMAGL ANGEVRIYRD
KALLNVIHTP DAVTSLCFGR YGREDNTLIM TTRGGGLIIK ILKRTAVFVE GGSEVGPPPA
QAMKLNVPRK TRLYVDQTLR EREAGTAMHR AFQTDLYLLR LRAARAYLQA LESSLSPLST
TAREPLKLHA VVQGLGPTFK LTLHLQNTST TRPVLGLLVC FLYNEALYSL PRAFFKVPLL
VPGLNYPLET FVESLSNKGI SDIIKVLVLR EGQSAPLLSA HVNMPGSEGL AAA*

mutated AA sequence

MAAASSSDSD ACGAESNEAN SKWLDAHYDP MANIHTFSAC LALADLHGDG EYKLVVGDLG
PGGQQPRLKV LKGPLVMTES PLPALPAAAA TFLMEQHEPR TPALALASGP CVYVYKNLRP
YFKFSLPQLP PNPLEQDLWN QAKEDRIDPL TLKEMLESIR ETAEEPLSIQ SLRFLQLELS
EMEAFVNQHK SNSIKRQTVI TTMTTLKKNL ADEDAVSCLV LGTENKELLV LDPEAFTILA
KMSLPSVPVF LEVSGQFDVE FRLAAACRNG NIYILRRDSK HPKYCIELSA QPVGLIRVHK
VLVVGSTQDS LHGFTHKGKK LWTVQMPAAI LTMNLLEQHS RGLQAVMAGL ANGEVRIYRD
KALLNVIHTP DAVTSLCFGR YGREDNTLIM TTRGGGLIIK ILKRTAVFVE GGSEVGPPPA
QAMKLNVPRK TRLYVDQTLR EREAGTAMHR AFQTDLYLLR LRAARAYLQA LESSLSPLST
TAREPLKLHA VVQGLGPTFK LTLHLQNTST TRPVLGLPVC FLYNEALYSL PRAFFKVPLL
VPGLNYPLET FVESLSNKGI SDIIKVLVLR EGQSAPLLSA HVNMPGSEGL AAA*

speed

0.58 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: 0.999247821036729 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM030410)
known disease mutation at this position (HGMD CM031138)
known disease mutation: rs12147 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:66298444T>CN/A show variant in all transcripts IGV

HGNC symbol

BBS1

Ensembl transcript ID

ENST00000455748

Genbank transcript ID

N/A

UniProt peptide

Q8NFJ9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1262T>C
cDNA.1280T>C
g.20368T>C

AA changes

L421P Score: 98 explain score(s)

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

421

frameshift

known variant

Reference ID: rs121917778

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	2	2

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.055	0.951
	1.637	0.938
(flanking)	0.837	0.765

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	20369	wt: 0.4142 / mu: 0.4285 (marginal change - not scored)	wt: CGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACGA mu: CGTCCTGTCCTGGGGCTGCCGGTCTGCTTCCTGTACAACGA	gctg\|GTCT
Acc marginally increased	20361	wt: 0.8186 / mu: 0.8601 (marginal change - not scored)	wt: CAACAACCCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTG mu: CAACAACCCGTCCTGTCCTGGGGCTGCCGGTCTGCTTCCTG	ctgg\|GGCT
Acc marginally increased	20359	wt: 0.7044 / mu: 0.7462 (marginal change - not scored)	wt: CTCAACAACCCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCC mu: CTCAACAACCCGTCCTGTCCTGGGGCTGCCGGTCTGCTTCC	tcct\|GGGG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

421

mutated

not conserved

421

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000006464

518

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000004418

497

Drerio

not conserved

ENSDARG00000075169

513

Dmelanogaster

all conserved

FBgn0035741

521

Celegans

not conserved

Y105E8A.5

502

Xtropicalis

all identical

ENSXETG00000026165

510

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1491 / 1491

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

497 / 497

position of stopcodon in wt / mu cDNA

1509 / 1509

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

19 / 19

chromosome

strand

last intron/exon boundary

1423

theoretical NMD boundary in CDS

1354

length of CDS

1491

coding sequence (CDS) position

1262

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

1280

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

20368

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

66298444

original gDNA sequence snippet

CCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACG

altered gDNA sequence snippet

CCGTCCTGTCCTGGGGCTGCCGGTCTGCTTCCTGTACAACG

original cDNA sequence snippet

CCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACG

altered cDNA sequence snippet

CCGTCCTGTCCTGGGGCTGCCGGTCTGCTTCCTGTACAACG

wildtype AA sequence

MAAASSSDSD ACGAESNEAN SKWLDAHYDP MANIHTFSAC LALADLHGDG EYKLVVGDLG
PGGQQPRLKV LKGPLVMTES PLPALPAAAA TFLMEQHEPR TPALALASGP CVYVYKNLRP
YFKFSLPQLP PNPLEQDLWN QAKEMSLPSV PVFLEVSGQF DVEFRLAAAC RNGNIYILRR
DSKHPKYCIE LSAQPVGLIR VHKVLVVGST QDSLHGFTHK GKKLWTVQMP AAILTMNLLE
QHSRGLQAVM AGLANGEVRI YRDKALLNVI HTPDAVTSLC FGRYGREDNT LIMTTRGGGL
IIKILKRTAV FVEGGSEVGP PPAQAMKLNV PRKTRLYVDQ TLREREAGTA MHRAFQTDLY
LLRLRAARAY LQALESSLSP LSTTAREPLK LHAVVQGLGP TFKLTLHLQN TSTTRPVLGL
LVCFLYNEAL YSLPRAFFKV PLLVPGLNYP LETFVESLSN KGISDIIKVL VLREGQSAPL
LSAHVNMPGS EGLAAA*

mutated AA sequence

MAAASSSDSD ACGAESNEAN SKWLDAHYDP MANIHTFSAC LALADLHGDG EYKLVVGDLG
PGGQQPRLKV LKGPLVMTES PLPALPAAAA TFLMEQHEPR TPALALASGP CVYVYKNLRP
YFKFSLPQLP PNPLEQDLWN QAKEMSLPSV PVFLEVSGQF DVEFRLAAAC RNGNIYILRR
DSKHPKYCIE LSAQPVGLIR VHKVLVVGST QDSLHGFTHK GKKLWTVQMP AAILTMNLLE
QHSRGLQAVM AGLANGEVRI YRDKALLNVI HTPDAVTSLC FGRYGREDNT LIMTTRGGGL
IIKILKRTAV FVEGGSEVGP PPAQAMKLNV PRKTRLYVDQ TLREREAGTA MHRAFQTDLY
LLRLRAARAY LQALESSLSP LSTTAREPLK LHAVVQGLGP TFKLTLHLQN TSTTRPVLGL
PVCFLYNEAL YSLPRAFFKV PLLVPGLNYP LETFVESLSN KGISDIIKVL VLREGQSAPL
LSAHVNMPGS EGLAAA*

speed

1.36 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999247821036729 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM030410)
known disease mutation at this position (HGMD CM031138)
known disease mutation: rs12147 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:66298444T>CN/A show variant in all transcripts IGV

HGNC symbol

BBS1

Ensembl transcript ID

ENST00000393994

Genbank transcript ID

N/A

UniProt peptide

Q8NFJ9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1166T>C
cDNA.1171T>C
g.20368T>C

AA changes

L389P Score: 98 explain score(s)

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

389

frameshift

known variant

Reference ID: rs121917778

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	2	2

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.055	0.951
	1.637	0.938
(flanking)	0.837	0.765

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	20369	wt: 0.4142 / mu: 0.4285 (marginal change - not scored)	wt: CGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACGA mu: CGTCCTGTCCTGGGGCTGCCGGTCTGCTTCCTGTACAACGA	gctg\|GTCT
Acc marginally increased	20361	wt: 0.8186 / mu: 0.8601 (marginal change - not scored)	wt: CAACAACCCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTG mu: CAACAACCCGTCCTGTCCTGGGGCTGCCGGTCTGCTTCCTG	ctgg\|GGCT
Acc marginally increased	20359	wt: 0.7044 / mu: 0.7462 (marginal change - not scored)	wt: CTCAACAACCCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCC mu: CTCAACAACCCGTCCTGTCCTGGGGCTGCCGGTCTGCTTCC	tcct\|GGGG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

389

mutated

not conserved

389

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000006464

518

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000004418

497

Drerio

not conserved

ENSDARG00000075169

513

Dmelanogaster

all conserved

FBgn0035741

522

Celegans

not conserved

Y105E8A.5

502

Xtropicalis

all identical

ENSXETG00000026165

510

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1341 / 1341

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

447 / 447

position of stopcodon in wt / mu cDNA

1346 / 1346

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

6 / 6

chromosome

strand

last intron/exon boundary

1227

theoretical NMD boundary in CDS

1171

length of CDS

1341

coding sequence (CDS) position

1166

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

1171

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

20368

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

66298444

original gDNA sequence snippet

CCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACG

altered gDNA sequence snippet

CCGTCCTGTCCTGGGGCTGCCGGTCTGCTTCCTGTACAACG

original cDNA sequence snippet

CCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACG

altered cDNA sequence snippet

CCGTCCTGTCCTGGGGCTGCCGGTCTGCTTCCTGTACAACG

wildtype AA sequence

MAAASSSDSD ACGAESNEAN SKWLDAHYDP MANIHTFSAC LALADLHGDG EYKLVVGDLG
PGGQQPRLKV LKGPLVMTES PLPALPAAAA TFLMEQHEPR TPALALASGP CVYVYKNLRP
YFKFSLPQLP PNPLEQDLWN QAKEDRIDPL TLKEMLESIR ETAEEPLSIQ SLRFLQLELS
EMEAFVNQHK SNSIKRQTVI TTMTTLKKNL ADEDAVSCLV LGTENKELLV LDPEAFTILA
KDAVTSLCFG RYGREDNTLI MTTRGGGLII KILKRTAVFV EGGSEVGPPP AQAMKLNVPR
KTRLYVDQTL REREAGTAMH RAFQTDLYLL RLRAARAYLQ ALESSLSPLS TTAREPLKLH
AVVQGLGPTF KLTLHLQNTS TTRPVLGLLV CFLYNEALYS LPRAFFKVPL LVPGLNYPLE
TFVESLSNKG ISDIIKVGPA LVPRGR*

mutated AA sequence

MAAASSSDSD ACGAESNEAN SKWLDAHYDP MANIHTFSAC LALADLHGDG EYKLVVGDLG
PGGQQPRLKV LKGPLVMTES PLPALPAAAA TFLMEQHEPR TPALALASGP CVYVYKNLRP
YFKFSLPQLP PNPLEQDLWN QAKEDRIDPL TLKEMLESIR ETAEEPLSIQ SLRFLQLELS
EMEAFVNQHK SNSIKRQTVI TTMTTLKKNL ADEDAVSCLV LGTENKELLV LDPEAFTILA
KDAVTSLCFG RYGREDNTLI MTTRGGGLII KILKRTAVFV EGGSEVGPPP AQAMKLNVPR
KTRLYVDQTL REREAGTAMH RAFQTDLYLL RLRAARAYLQ ALESSLSPLS TTAREPLKLH
AVVQGLGPTF KLTLHLQNTS TTRPVLGLPV CFLYNEALYS LPRAFFKVPL LVPGLNYPLE
TFVESLSNKG ISDIIKVGPA LVPRGR*

speed

0.49 s

mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 0.999999999860697 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM030410)
known disease mutation at this position (HGMD CM031138)
known disease mutation: rs12147 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:66298444T>CN/A show variant in all transcripts IGV

HGNC symbol

ZDHHC24

Ensembl transcript ID

ENST00000526986

Genbank transcript ID

N/A

UniProt peptide

Q6UX98

alteration type

single base exchange

alteration region

intron

DNA changes

g.15266A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs121917778

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	2	2

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.055	0.951
	1.637	0.938
(flanking)	0.837	0.765

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 gained	15265	0.52	mu: CAGACCGGCAGCCCC	GACC\|ggca

distance from splice site

1485

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
140	222	COMPBIAS	Leu-rich.	might get lost (downstream of altered splice site)
167	187	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
202	222	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

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

233 / 233

chromosome

strand

-1

last intron/exon boundary

1040

theoretical NMD boundary in CDS

757

length of CDS

786

coding sequence (CDS) position

N/A

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

N/A

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

15266

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

66298444

original gDNA sequence snippet

CGTTGTACAGGAAGCAGACCAGCAGCCCCAGGACAGGACGG

altered gDNA sequence snippet

CGTTGTACAGGAAGCAGACCGGCAGCCCCAGGACAGGACGG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MGQPWAAGST DGAPAQLPLV LTALWAAAVG LELAYVLVLG PGPPPLGPLA RALQLALAAF
QLLNLLGNVG LFLRSDPSIR GVMLAGRGLG QGWAYCYQCQ SQVPPRSGHC SACRVCILRR
DHHCRLLGRC VGFGNYRPFL CLLLHAAGVL LHVSVLLGPA LSALLRAHTP LHMAALLLLP
WLMLLTDNPC PATALTTTKR SPWCPRSILC MCLQQLSEHP RLPPAHLHRE VPSTPQAQCC
GNQPHAPSSL RNSDLQATCT S*

mutated AA sequence

N/A

speed

0.42 s

Problems

data problem

No NCBI gene ID found for this transcript

back to results table