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: ENST00000340001
Querying Taster for transcript #2: ENST00000453985
Querying Taster for transcript #3: ENST00000370732
MT speed 3.85 s - this script 5.031948 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ABCA9	polymorphism_automatic	0.993651816079613	simple_aae				K1306T	single base exchange	rs2302294		show file
ABCA9	polymorphism_automatic	0.995476464528497	simple_aae				K1268T	single base exchange	rs2302294		show file
ABCA9	polymorphism_automatic	0.997271049799758	simple_aae				K1306T	single base exchange	rs2302294		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.00634818392038666 (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)

chr17:66985992T>GN/A show variant in all transcripts IGV

HGNC symbol

ABCA9

Ensembl transcript ID

ENST00000370732

Genbank transcript ID

N/A

UniProt peptide

Q8IUA7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3917A>C
cDNA.4060A>C
g.71214A>C

AA changes

K1306T Score: 78 explain score(s)

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

1306

frameshift

known variant

Reference ID: rs2302294

database	homozygous (G/G)	heterozygous	allele carriers
1000G	551	968	1519
ExAC	21458	-10149	11309

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.819	1
	2.77	1
(flanking)	4.296	1

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	71205	wt: 0.6437 / mu: 0.6787 (marginal change - not scored)	wt: TAAAAGGAAGAAAAA mu: TAAAAGGAAGAAAAC	AAAG\|gaag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1306

mutated

not conserved

1306

Ptroglodytes

all identical

ENSPTRG00000009583

1306

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000015675

1262

Mmusculus

all identical

ENSMUSG00000041797

1305

Ggallus

all identical

ENSGALG00000021399

1302

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0031170

1392

Celegans

no alignment

Y39D8C.1

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1288	1521	DOMAIN	ABC transporter 2.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4308 / 4308

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

1436 / 1436

position of stopcodon in wt / mu cDNA

4451 / 4451

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

4825

theoretical NMD boundary in CDS

4631

length of CDS

4308

coding sequence (CDS) position

3917

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

4060

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

71214

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

66985992

original gDNA sequence snippet

CTTTTCTAAAAGGAAGAAAAAAATTGCCACAAGAAATGTCT

altered gDNA sequence snippet

CTTTTCTAAAAGGAAGAAAACAATTGCCACAAGAAATGTCT

original cDNA sequence snippet

CTTTTCTAAAAGGAAGAAAAAAATTGCCACAAGAAATGTCT

altered cDNA sequence snippet

CTTTTCTAAAAGGAAGAAAACAATTGCCACAAGAAATGTCT

wildtype AA sequence

MSKRRMSVGQ QTWALLCKNC LKKWRMKRQT LLEWLFSFLL VLFLYLFFSN LHQVHDTPQM
SSMDLGRVDS FNDTNYVIAF APESKTTQEI MNKVASAPFL KGRTIMGWPD EKSMDELDLN
YSIDAVRVIF TDTFSYHLKF SWGHRIPMMK EHRDHSAHCQ AVNEKMKCEG SEFWEKGFVA
FQAAINAAII EIATNHSVME QLMSVTGVHM KILPFVAQGG VATDFFIFFC IISFSTFIYY
VSVNVTQERQ YITSLMTMMG LRESAFWLSW GLMYAGFILI MATLMALIVK SAQIVVLTGF
VMVFTLFLLY GLSLITLAFL MSVLIKKPFL TGLVVFLLIV FWGILGFPAL YTRLPAFLEW
TLCLLSPFAF TVGMAQLIHL DYDVNSNAHL DSSQNPYLII ATLFMLVFDT LLYLVLTLYF
DKILPAEYGH RCSPLFFLKS CFWFQHGRAN HVVLENETDS DPTPNDCFEP VSPEFCGKEA
IRIKNLKKEY AGKCERVEAL KGVVFDIYEG QITALLGHSG AGKTTLLNIL SGLSVPTSGS
VTVYNHTLSR MADIENISKF TGFCPQSNVQ FGFLTVKENL RLFAKIKGIL PHEVEKEVQR
VVQELEMENI QDILAQNLSG GQNRKLTFGI AILGDPQVLL LDEPTAGLDP LSRHRIWNLL
KEGKSDRVIL FSTQFIDEAD ILADRKVFIS NGKLKCAGSS LFLKKKWGIG YHLSLHLNER
CDPESITSLV KQHISDAKLT AQSEEKLVYI LPLERTNKFP ELYRDLDRCS NQGIEDYGVS
ITTLNEVFLK LEGKSTIDES DIGIWGQLQT DGAKDIGSLV ELEQVLSSFH ETRKTISGVA
LWRQQVCAIA KVRFLKLKKE RKSLWTILLL FGISFIPQLL EHLFYESYQK SYPWELSPNT
YFLSPGQQPQ DPLTHLLVIN KTGSTIDNFL HSLRRQNIAI EVDAFGTRNG TDDPSYNGAI
IVSGDEKDHR FSIACNTKRL NCFPVLLDVI SNGLLGIFNS SEHIQTDRST FFEEHMDYEY
GYRSNTFFWI PMAASFTPYI AMSSIGDYKK KAHSQLRISG LYPSAYWFGQ ALVDVSLYFL
ILLLMQIMDY IFSPEEIIFI IQNLLIQILC SIGYVSSLVF LTYVISFIFR NGRKNSGIWS
FFFLIVVIFS IVATDLNEYG FLGLFFGTML IPPFTLIGSL FIFSEISPDS MDYLGASESE
IVYLALLIPY LHFLIFLFIL RCLEMNCRKK LMRKDPVFRI SPRSNAIFPN PEEPEGEEED
IQMERMRTVN AMAVRDFDET PVIIASCLRK EYAGKKKNCF SKRKKKIATR NVSFCVKKGE
VIGLLGHNGA GKSTTIKMIT GDTKPTAGQV ILKGSGGGEP LGFLGYCPQE NALWPNLTVR
QHLEVYAAVK GLRKGDAMIA ITRLVDALKL QDQLKAPVKT LSEGIKRKAG DSGHL*

mutated AA sequence

MSKRRMSVGQ QTWALLCKNC LKKWRMKRQT LLEWLFSFLL VLFLYLFFSN LHQVHDTPQM
SSMDLGRVDS FNDTNYVIAF APESKTTQEI MNKVASAPFL KGRTIMGWPD EKSMDELDLN
YSIDAVRVIF TDTFSYHLKF SWGHRIPMMK EHRDHSAHCQ AVNEKMKCEG SEFWEKGFVA
FQAAINAAII EIATNHSVME QLMSVTGVHM KILPFVAQGG VATDFFIFFC IISFSTFIYY
VSVNVTQERQ YITSLMTMMG LRESAFWLSW GLMYAGFILI MATLMALIVK SAQIVVLTGF
VMVFTLFLLY GLSLITLAFL MSVLIKKPFL TGLVVFLLIV FWGILGFPAL YTRLPAFLEW
TLCLLSPFAF TVGMAQLIHL DYDVNSNAHL DSSQNPYLII ATLFMLVFDT LLYLVLTLYF
DKILPAEYGH RCSPLFFLKS CFWFQHGRAN HVVLENETDS DPTPNDCFEP VSPEFCGKEA
IRIKNLKKEY AGKCERVEAL KGVVFDIYEG QITALLGHSG AGKTTLLNIL SGLSVPTSGS
VTVYNHTLSR MADIENISKF TGFCPQSNVQ FGFLTVKENL RLFAKIKGIL PHEVEKEVQR
VVQELEMENI QDILAQNLSG GQNRKLTFGI AILGDPQVLL LDEPTAGLDP LSRHRIWNLL
KEGKSDRVIL FSTQFIDEAD ILADRKVFIS NGKLKCAGSS LFLKKKWGIG YHLSLHLNER
CDPESITSLV KQHISDAKLT AQSEEKLVYI LPLERTNKFP ELYRDLDRCS NQGIEDYGVS
ITTLNEVFLK LEGKSTIDES DIGIWGQLQT DGAKDIGSLV ELEQVLSSFH ETRKTISGVA
LWRQQVCAIA KVRFLKLKKE RKSLWTILLL FGISFIPQLL EHLFYESYQK SYPWELSPNT
YFLSPGQQPQ DPLTHLLVIN KTGSTIDNFL HSLRRQNIAI EVDAFGTRNG TDDPSYNGAI
IVSGDEKDHR FSIACNTKRL NCFPVLLDVI SNGLLGIFNS SEHIQTDRST FFEEHMDYEY
GYRSNTFFWI PMAASFTPYI AMSSIGDYKK KAHSQLRISG LYPSAYWFGQ ALVDVSLYFL
ILLLMQIMDY IFSPEEIIFI IQNLLIQILC SIGYVSSLVF LTYVISFIFR NGRKNSGIWS
FFFLIVVIFS IVATDLNEYG FLGLFFGTML IPPFTLIGSL FIFSEISPDS MDYLGASESE
IVYLALLIPY LHFLIFLFIL RCLEMNCRKK LMRKDPVFRI SPRSNAIFPN PEEPEGEEED
IQMERMRTVN AMAVRDFDET PVIIASCLRK EYAGKKKNCF SKRKKTIATR NVSFCVKKGE
VIGLLGHNGA GKSTTIKMIT GDTKPTAGQV ILKGSGGGEP LGFLGYCPQE NALWPNLTVR
QHLEVYAAVK GLRKGDAMIA ITRLVDALKL QDQLKAPVKT LSEGIKRKAG DSGHL*

speed

1.26 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: 0.00452353547150315 (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)

chr17:66985992T>GN/A show variant in all transcripts IGV

HGNC symbol

ABCA9

Ensembl transcript ID

ENST00000453985

Genbank transcript ID

N/A

UniProt peptide

Q8IUA7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3803A>C
cDNA.3875A>C
g.71214A>C

AA changes

K1268T Score: 78 explain score(s)

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

1268

frameshift

known variant

Reference ID: rs2302294

database	homozygous (G/G)	heterozygous	allele carriers
1000G	551	968	1519
ExAC	21458	-10149	11309

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.819	1
	2.77	1
(flanking)	4.296	1

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	71205	wt: 0.6437 / mu: 0.6787 (marginal change - not scored)	wt: TAAAAGGAAGAAAAA mu: TAAAAGGAAGAAAAC	AAAG\|gaag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1268

mutated

not conserved

1268

Ptroglodytes

all identical

ENSPTRG00000009583

1306

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000015675

1262

Mmusculus

all identical

ENSMUSG00000041797

1305

Ggallus

all identical

ENSGALG00000021399

1302

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0031170

1392

Celegans

not conserved

Y39D8C.1

1456

NLVKWYG

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4761 / 4761

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

1587 / 1587

position of stopcodon in wt / mu cDNA

4833 / 4833

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

73 / 73

chromosome

strand

-1

last intron/exon boundary

4735

theoretical NMD boundary in CDS

4612

length of CDS

4761

coding sequence (CDS) position

3803

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

3875

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

71214

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

66985992

original gDNA sequence snippet

CTTTTCTAAAAGGAAGAAAAAAATTGCCACAAGAAATGTCT

altered gDNA sequence snippet

CTTTTCTAAAAGGAAGAAAACAATTGCCACAAGAAATGTCT

original cDNA sequence snippet

CTTTTCTAAAAGGAAGAAAAAAATTGCCACAAGAAATGTCT

altered cDNA sequence snippet

CTTTTCTAAAAGGAAGAAAACAATTGCCACAAGAAATGTCT

wildtype AA sequence

MSKRRMSVGQ QTWALLCKNC LKKWRMKRQT LLEWLFSFLL VLFLYLFFSN LHQVHDTPQM
SSMDLGRVDS FNDTNYVIAF APESKTTQEI MNKVASAPFL KGRTIMGWPD EKSMDELDLN
YSIDAVRVIF TDTFSYHLKF SWGHRIPMMK EHRDHSAHCQ AVNEKMKCEG SEFWEKGFVA
FQAAINAAII EIATNHSVME QLMSVTGVHM KILPFVAQGG VATDFFIFFC IISFSTFIYY
VSVNVTQERQ YITSLMTMMG LRESAFWLSW GLMYAGFILI MATLMALIVK SAQIVVLTGF
VMVFTLFLLY GLSLITLAFL MSVLIKKPFL TGLVVFLLIV FWGILGFPAL YTRLPAFLEW
TLCLLSPFAF TVGMAQLIHL DYDVNSNAHL DSSQNPYLII ATLFMLVFDT LLYLVLTLYF
DKILPAEYGH RCSPLFFLKS CFWFQHGRAN HVVLENETDS DPTPNDCFEP VSPEFCGKEA
IRIKNLKKEY AGKCERVEAL KGVVFDIYEG QITALLGHSG AGKTTLLNIL SGLSVPTSGS
VTVYNHTLSR MADIENISKF TGFCPQSNVQ FGFLTVKENL RLFAKIKGIL PHEVEKEVQR
VVQELEMENI QDILAQNLSG GQNRKLTFGI AILGDPQVLL LDEPTAGLDP LSRHRIWNLL
KEGKSDRVIL FSTQFIDEAD ILADRKVFIS NGKLKCAGSS LFLKKKWGIG YHLSLHLNER
CDPESITSLV KQHISDAKLT AQSEEKLVYI LPLERTNKFP ELYRDLDRCS NQGIEDYGVS
ITTLNEVFLK LEGKSTIDES DIGIWGQLQT DGAKDIGSLV ELEQVLSSFH ETRKTISGVA
LWRQQVCAIA KVRFLKLKKE RKSLWTILLL FGISFIPQLL EHLFYESYQK SYPWELSPNT
YFLSPGQQPQ DPLTHLLVIN KTGSTIDNFL HSLRRQNIAI EVDAFGTRNG TDDPSYNGAI
IVSGDEKDHR FSIACNTKRL NCFPVLLDVI SNGLLGIFNS SEHIQTDRST FFEEHMDYEY
GYRSNTFFWI PMAASFTPYI AMSSIGDYKK KAHSQLRISG LYPSAYWFGQ ALVDVSLYFL
ILLLMQIMDY IFSPEEIIFI IQNLLIQVVI FSIVATDLNE YGFLGLFFGT MLIPPFTLIG
SLFIFSEISP DSMDYLGASE SEIVYLALLI PYLHFLIFLF ILRCLEMNCR KKLMRKDPVF
RISPRSNAIF PNPEEPEGEE EDIQMERMRT VNAMAVRDFD ETPVIIASCL RKEYAGKKKN
CFSKRKKKIA TRNVSFCVKK GEVIGLLGHN GAGKSTTIKM ITGDTKPTAG QVILKGSGGG
EPLGFLGYCP QENALWPNLT VRQHLEVYAA VKGLRKGDAM IAITRLVDAL KLQDQLKAPV
KTLSEGIKRK LCFVLSILGN PSVVLLDEPS TGMDPEGQQQ MWQVIRATFR NTERGALLTT
HYMAEAEAVC DRVAIMVSGR LRCIGSIQHL KSKFGKDYLL EMKLKNLAQM EPLHAEILRL
FPQAAQQERF SSLMVYKLPV EDVRPLSQAF FKLEIVKQSF DLEEYSLSQS TLEQVFLELS
KEQELGDLEE DFDPSVKWKL LLQEEP*

mutated AA sequence

MSKRRMSVGQ QTWALLCKNC LKKWRMKRQT LLEWLFSFLL VLFLYLFFSN LHQVHDTPQM
SSMDLGRVDS FNDTNYVIAF APESKTTQEI MNKVASAPFL KGRTIMGWPD EKSMDELDLN
YSIDAVRVIF TDTFSYHLKF SWGHRIPMMK EHRDHSAHCQ AVNEKMKCEG SEFWEKGFVA
FQAAINAAII EIATNHSVME QLMSVTGVHM KILPFVAQGG VATDFFIFFC IISFSTFIYY
VSVNVTQERQ YITSLMTMMG LRESAFWLSW GLMYAGFILI MATLMALIVK SAQIVVLTGF
VMVFTLFLLY GLSLITLAFL MSVLIKKPFL TGLVVFLLIV FWGILGFPAL YTRLPAFLEW
TLCLLSPFAF TVGMAQLIHL DYDVNSNAHL DSSQNPYLII ATLFMLVFDT LLYLVLTLYF
DKILPAEYGH RCSPLFFLKS CFWFQHGRAN HVVLENETDS DPTPNDCFEP VSPEFCGKEA
IRIKNLKKEY AGKCERVEAL KGVVFDIYEG QITALLGHSG AGKTTLLNIL SGLSVPTSGS
VTVYNHTLSR MADIENISKF TGFCPQSNVQ FGFLTVKENL RLFAKIKGIL PHEVEKEVQR
VVQELEMENI QDILAQNLSG GQNRKLTFGI AILGDPQVLL LDEPTAGLDP LSRHRIWNLL
KEGKSDRVIL FSTQFIDEAD ILADRKVFIS NGKLKCAGSS LFLKKKWGIG YHLSLHLNER
CDPESITSLV KQHISDAKLT AQSEEKLVYI LPLERTNKFP ELYRDLDRCS NQGIEDYGVS
ITTLNEVFLK LEGKSTIDES DIGIWGQLQT DGAKDIGSLV ELEQVLSSFH ETRKTISGVA
LWRQQVCAIA KVRFLKLKKE RKSLWTILLL FGISFIPQLL EHLFYESYQK SYPWELSPNT
YFLSPGQQPQ DPLTHLLVIN KTGSTIDNFL HSLRRQNIAI EVDAFGTRNG TDDPSYNGAI
IVSGDEKDHR FSIACNTKRL NCFPVLLDVI SNGLLGIFNS SEHIQTDRST FFEEHMDYEY
GYRSNTFFWI PMAASFTPYI AMSSIGDYKK KAHSQLRISG LYPSAYWFGQ ALVDVSLYFL
ILLLMQIMDY IFSPEEIIFI IQNLLIQVVI FSIVATDLNE YGFLGLFFGT MLIPPFTLIG
SLFIFSEISP DSMDYLGASE SEIVYLALLI PYLHFLIFLF ILRCLEMNCR KKLMRKDPVF
RISPRSNAIF PNPEEPEGEE EDIQMERMRT VNAMAVRDFD ETPVIIASCL RKEYAGKKKN
CFSKRKKTIA TRNVSFCVKK GEVIGLLGHN GAGKSTTIKM ITGDTKPTAG QVILKGSGGG
EPLGFLGYCP QENALWPNLT VRQHLEVYAA VKGLRKGDAM IAITRLVDAL KLQDQLKAPV
KTLSEGIKRK LCFVLSILGN PSVVLLDEPS TGMDPEGQQQ MWQVIRATFR NTERGALLTT
HYMAEAEAVC DRVAIMVSGR LRCIGSIQHL KSKFGKDYLL EMKLKNLAQM EPLHAEILRL
FPQAAQQERF SSLMVYKLPV EDVRPLSQAF FKLEIVKQSF DLEEYSLSQS TLEQVFLELS
KEQELGDLEE DFDPSVKWKL LLQEEP*

speed

1.27 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.00272895020024222 (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)

chr17:66985992T>GN/A show variant in all transcripts IGV

HGNC symbol

ABCA9

Ensembl transcript ID

ENST00000340001

Genbank transcript ID

NM_080283

UniProt peptide

Q8IUA7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3917A>C
cDNA.4129A>C
g.71214A>C

AA changes

K1306T Score: 78 explain score(s)

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

1306

frameshift

known variant

Reference ID: rs2302294

database	homozygous (G/G)	heterozygous	allele carriers
1000G	551	968	1519
ExAC	21458	-10149	11309

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.819	1
	2.77	1
(flanking)	4.296	1

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	71205	wt: 0.6437 / mu: 0.6787 (marginal change - not scored)	wt: TAAAAGGAAGAAAAA mu: TAAAAGGAAGAAAAC	AAAG\|gaag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1306

mutated

not conserved

1306

Ptroglodytes

all identical

ENSPTRG00000009583

1306

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000015675

1262

Mmusculus

all identical

ENSMUSG00000041797

1305

Ggallus

all identical

ENSGALG00000021399

1302

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0031170

1392

Celegans

not conserved

Y39D8C.1

1472

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1288	1521	DOMAIN	ABC transporter 2.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4875 / 4875

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

1625 / 1625

position of stopcodon in wt / mu cDNA

5087 / 5087

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

213 / 213

chromosome

strand

-1

last intron/exon boundary

4989

theoretical NMD boundary in CDS

4726

length of CDS

4875

coding sequence (CDS) position

3917

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

4129

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

71214

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

66985992

original gDNA sequence snippet

CTTTTCTAAAAGGAAGAAAAAAATTGCCACAAGAAATGTCT

altered gDNA sequence snippet

CTTTTCTAAAAGGAAGAAAACAATTGCCACAAGAAATGTCT

original cDNA sequence snippet

CTTTTCTAAAAGGAAGAAAAAAATTGCCACAAGAAATGTCT

altered cDNA sequence snippet

CTTTTCTAAAAGGAAGAAAACAATTGCCACAAGAAATGTCT

wildtype AA sequence

mutated AA sequence

MSKRRMSVGQ QTWALLCKNC LKKWRMKRQT LLEWLFSFLL VLFLYLFFSN LHQVHDTPQM
SSMDLGRVDS FNDTNYVIAF APESKTTQEI MNKVASAPFL KGRTIMGWPD EKSMDELDLN
YSIDAVRVIF TDTFSYHLKF SWGHRIPMMK EHRDHSAHCQ AVNEKMKCEG SEFWEKGFVA
FQAAINAAII EIATNHSVME QLMSVTGVHM KILPFVAQGG VATDFFIFFC IISFSTFIYY
VSVNVTQERQ YITSLMTMMG LRESAFWLSW GLMYAGFILI MATLMALIVK SAQIVVLTGF
VMVFTLFLLY GLSLITLAFL MSVLIKKPFL TGLVVFLLIV FWGILGFPAL YTRLPAFLEW
TLCLLSPFAF TVGMAQLIHL DYDVNSNAHL DSSQNPYLII ATLFMLVFDT LLYLVLTLYF
DKILPAEYGH RCSPLFFLKS CFWFQHGRAN HVVLENETDS DPTPNDCFEP VSPEFCGKEA
IRIKNLKKEY AGKCERVEAL KGVVFDIYEG QITALLGHSG AGKTTLLNIL SGLSVPTSGS
VTVYNHTLSR MADIENISKF TGFCPQSNVQ FGFLTVKENL RLFAKIKGIL PHEVEKEVQR
VVQELEMENI QDILAQNLSG GQNRKLTFGI AILGDPQVLL LDEPTAGLDP LSRHRIWNLL
KEGKSDRVIL FSTQFIDEAD ILADRKVFIS NGKLKCAGSS LFLKKKWGIG YHLSLHLNER
CDPESITSLV KQHISDAKLT AQSEEKLVYI LPLERTNKFP ELYRDLDRCS NQGIEDYGVS
ITTLNEVFLK LEGKSTIDES DIGIWGQLQT DGAKDIGSLV ELEQVLSSFH ETRKTISGVA
LWRQQVCAIA KVRFLKLKKE RKSLWTILLL FGISFIPQLL EHLFYESYQK SYPWELSPNT
YFLSPGQQPQ DPLTHLLVIN KTGSTIDNFL HSLRRQNIAI EVDAFGTRNG TDDPSYNGAI
IVSGDEKDHR FSIACNTKRL NCFPVLLDVI SNGLLGIFNS SEHIQTDRST FFEEHMDYEY
GYRSNTFFWI PMAASFTPYI AMSSIGDYKK KAHSQLRISG LYPSAYWFGQ ALVDVSLYFL
ILLLMQIMDY IFSPEEIIFI IQNLLIQILC SIGYVSSLVF LTYVISFIFR NGRKNSGIWS
FFFLIVVIFS IVATDLNEYG FLGLFFGTML IPPFTLIGSL FIFSEISPDS MDYLGASESE
IVYLALLIPY LHFLIFLFIL RCLEMNCRKK LMRKDPVFRI SPRSNAIFPN PEEPEGEEED
IQMERMRTVN AMAVRDFDET PVIIASCLRK EYAGKKKNCF SKRKKTIATR NVSFCVKKGE
VIGLLGHNGA GKSTTIKMIT GDTKPTAGQV ILKGSGGGEP LGFLGYCPQE NALWPNLTVR
QHLEVYAAVK GLRKGDAMIA ITRLVDALKL QDQLKAPVKT LSEGIKRKLC FVLSILGNPS
VVLLDEPSTG MDPEGQQQMW QVIRATFRNT ERGALLTTHY MAEAEAVCDR VAIMVSGRLR
CIGSIQHLKS KFGKDYLLEM KLKNLAQMEP LHAEILRLFP QAAQQERFSS LMVYKLPVED
VRPLSQAFFK LEIVKQSFDL EEYSLSQSTL EQVFLELSKE QELGDLEEDF DPSVKWKLLL
QEEP*

speed

1.32 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems