MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 7 transcript(s)...
Querying Taster for transcript #1: ENST00000242839
Querying Taster for transcript #2: ENST00000400366
Querying Taster for transcript #3: ENST00000344297
Querying Taster for transcript #4: ENST00000448424
Querying Taster for transcript #5: ENST00000400370
Querying Taster for transcript #6: ENST00000418097
Querying Taster for transcript #7: ENST00000417240
MT speed 0 s - this script 3.322629 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ATP7B	disease_causing_automatic	0.999999971309494	simple_aae		affected	0	N1270S	single base exchange	rs121907990		show file
ATP7B	disease_causing_automatic	0.999999971309494	simple_aae		affected	0	N1159S	single base exchange	rs121907990		show file
ATP7B	disease_causing_automatic	0.999999971309494	simple_aae		affected	0	N840S	single base exchange	rs121907990		show file
ATP7B	disease_causing_automatic	0.999999971309494	simple_aae		affected	0	N1205S	single base exchange	rs121907990		show file
ATP7B	disease_causing_automatic	0.999999971309494	simple_aae		affected	0	N481S	single base exchange	rs121907990		show file
ATP7B	disease_causing_automatic	0.999999993665271	simple_aae		affected	0	N1192S	single base exchange	rs121907990		show file
ATP7B	disease_causing_automatic	0.999999995292395	simple_aae		affected	0	N1063S	single base exchange	rs121907990		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999971309494 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM161467)
known disease mutation at this position (HGMD CM930060)
known disease mutation at this position (HGMD CM994116)
known disease mutation: rs3859 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr13:52511706T>CN/A show variant in all transcripts IGV

HGNC symbol

ATP7B

Ensembl transcript ID

ENST00000242839

Genbank transcript ID

NM_000053

UniProt peptide

P35670

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3809A>G
cDNA.3966A>G
g.73925A>G

AA changes

N1270S Score: 46 explain score(s)

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

1270

frameshift

known variant

Reference ID: rs121907990

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	18	18

known disease mutation: rs3859 (pathogenic for Wilson disease|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM161467)

known disease mutation at this position, please check HGMD for details (HGMD ID CM161467)
known disease mutation at this position, please check HGMD for details (HGMD ID CM930060)

known disease mutation at this position, please check HGMD for details (HGMD ID CM161467)
known disease mutation at this position, please check HGMD for details (HGMD ID CM930060)
known disease mutation at this position, please check HGMD for details (HGMD ID CM994116)

known disease mutation at this position, please check HGMD for details (HGMD ID CM161467)
known disease mutation at this position, please check HGMD for details (HGMD ID CM930060)
known disease mutation at this position, please check HGMD for details (HGMD ID CM994116)
known disease mutation at this position, please check HGMD for details (HGMD ID CM930060)

known disease mutation at this position, please check HGMD for details (HGMD ID CM161467)
known disease mutation at this position, please check HGMD for details (HGMD ID CM930060)
known disease mutation at this position, please check HGMD for details (HGMD ID CM994116)
known disease mutation at this position, please check HGMD for details (HGMD ID CM930060)
known disease mutation at this position, please check HGMD for details (HGMD ID CM994116)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.499	0.82
	4.818	0.998
(flanking)	4.818	0.998

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	73924	0.89	mu: GGGTCAGTGACTCCC	GTCA\|gtga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1270

mutated

all conserved

1270

Ptroglodytes

all identical

ENSPTRG00000005897

1218

Mmulatta

all identical

ENSMMUG00000016520

1229

Fcatus

all identical

ENSFCAG00000003710

1258

Mmusculus

all identical

ENSMUSG00000006567

1267

Ggallus

all identical

ENSGALG00000017021

1248

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all identical

FBgn0030343

1040

Celegans

all identical

Y76A2A.2

1044

Xtropicalis

all identical

ENSXETG00000020713

1214

protein features

start (aa)	end (aa)	feature	details
995	1322	TOPO_DOM	Cytoplasmic (Potential).	lost
1271	1271	METAL	Magnesium (By similarity).	might get lost (downstream of altered splice site)
1323	1340	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1341	1351	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
1352	1371	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1372	1465	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4398 / 4398

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

1466 / 1466

position of stopcodon in wt / mu cDNA

4555 / 4555

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

158 / 158

chromosome

strand

-1

last intron/exon boundary

4282

theoretical NMD boundary in CDS

4074

length of CDS

4398

coding sequence (CDS) position

3809

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

3966

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

73925

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

52511706

original gDNA sequence snippet

CATGGTGGGGGATGGGGTCAATGACTCCCCGGCCTTGGCCC

altered gDNA sequence snippet

CATGGTGGGGGATGGGGTCAGTGACTCCCCGGCCTTGGCCC

original cDNA sequence snippet

CATGGTGGGGGATGGGGTCAATGACTCCCCGGCCTTGGCCC

altered cDNA sequence snippet

CATGGTGGGGGATGGGGTCAGTGACTCCCCGGCCTTGGCCC

wildtype AA sequence

MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS
TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG
FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN
QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN
QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK
YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST
TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM
GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ
STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL
EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA
TSKALVKFDP EIIGPRDIIK IIEEIGFHAS LAQRNPNAHH LDHKMEIKQW KKSFLCSLVF
GIPVMALMIY MLIPSNEPHQ SMVLDHNIIP GLSILNLIFF ILCTFVQLLG GWYFYVQAYK
SLRHRSANMD VLIVLATSIA YVYSLVILVV AVAEKAERSP VTFFDTPPML FVFIALGRWL
EHLAKSKTSE ALAKLMSLQA TEATVVTLGE DNLIIREEQV PMELVQRGDI VKVVPGGKFP
VDGKVLEGNT MADESLITGE AMPVTKKPGS TVIAGSINAH GSVLIKATHV GNDTTLAQIV
KLVEEAQMSK APIQQLADRF SGYFVPFIII MSTLTLVVWI VIGFIDFGVV QRYFPNPNKH
ISQTEVIIRF AFQTSITVLC IACPCSLGLA TPTAVMVGTG VAAQNGILIK GGKPLEMAHK
IKTVMFDKTG TITHGVPRVM RVLLLGDVAT LPLRKVLAVV GTAEASSEHP LGVAVTKYCK
EELGTETLGY CTDFQAVPGC GIGCKVSNVE GILAHSERPL SAPASHLNEA GSLPAEKDAV
PQTFSVLIGN REWLRRNGLT ISSDVSDAMT DHEMKGQTAI LVAIDGVLCG MIAIADAVKQ
EAALAVHTLQ SMGVDVVLIT GDNRKTARAI ATQVGINKVF AEVLPSHKVA KVQELQNKGK
KVAMVGDGVN DSPALAQADM GVAIGTGTDV AIEAADVVLI RNDLLDVVAS IHLSKRTVRR
IRINLVLALI YNLVGIPIAA GVFMPIGIVL QPWMGSAAMA ASSVSVVLSS LQLKCYKKPD
LERYEAQAHG HMKPLTASQV SVHIGMDDRW RDSPRATPWD QVSYVSQVSL SSLTSDKPSR
HSAAADDDGD KWSLLLNGRD EEQYI*

mutated AA sequence

MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS
TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG
FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN
QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN
QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK
YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST
TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM
GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ
STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL
EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA
TSKALVKFDP EIIGPRDIIK IIEEIGFHAS LAQRNPNAHH LDHKMEIKQW KKSFLCSLVF
GIPVMALMIY MLIPSNEPHQ SMVLDHNIIP GLSILNLIFF ILCTFVQLLG GWYFYVQAYK
SLRHRSANMD VLIVLATSIA YVYSLVILVV AVAEKAERSP VTFFDTPPML FVFIALGRWL
EHLAKSKTSE ALAKLMSLQA TEATVVTLGE DNLIIREEQV PMELVQRGDI VKVVPGGKFP
VDGKVLEGNT MADESLITGE AMPVTKKPGS TVIAGSINAH GSVLIKATHV GNDTTLAQIV
KLVEEAQMSK APIQQLADRF SGYFVPFIII MSTLTLVVWI VIGFIDFGVV QRYFPNPNKH
ISQTEVIIRF AFQTSITVLC IACPCSLGLA TPTAVMVGTG VAAQNGILIK GGKPLEMAHK
IKTVMFDKTG TITHGVPRVM RVLLLGDVAT LPLRKVLAVV GTAEASSEHP LGVAVTKYCK
EELGTETLGY CTDFQAVPGC GIGCKVSNVE GILAHSERPL SAPASHLNEA GSLPAEKDAV
PQTFSVLIGN REWLRRNGLT ISSDVSDAMT DHEMKGQTAI LVAIDGVLCG MIAIADAVKQ
EAALAVHTLQ SMGVDVVLIT GDNRKTARAI ATQVGINKVF AEVLPSHKVA KVQELQNKGK
KVAMVGDGVS DSPALAQADM GVAIGTGTDV AIEAADVVLI RNDLLDVVAS IHLSKRTVRR
IRINLVLALI YNLVGIPIAA GVFMPIGIVL QPWMGSAAMA ASSVSVVLSS LQLKCYKKPD
LERYEAQAHG HMKPLTASQV SVHIGMDDRW RDSPRATPWD QVSYVSQVSL SSLTSDKPSR
HSAAADDDGD KWSLLLNGRD EEQYI*

speed

0.32 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: 0.999999971309494 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM161467)
known disease mutation at this position (HGMD CM930060)
known disease mutation at this position (HGMD CM994116)
known disease mutation: rs3859 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr13:52511706T>CN/A show variant in all transcripts IGV

HGNC symbol

ATP7B

Ensembl transcript ID

ENST00000400366

Genbank transcript ID

NM_001243182

UniProt peptide

P35670

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3476A>G
cDNA.3633A>G
g.73925A>G

AA changes

N1159S Score: 46 explain score(s)

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

1159

frameshift

known variant

Reference ID: rs121907990

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	18	18

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.499	0.82
	4.818	0.998
(flanking)	4.818	0.998

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	73924	0.89	mu: GGGTCAGTGACTCCC	GTCA\|gtga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1159

mutated

all conserved

1159

Ptroglodytes

all identical

ENSPTRG00000005897

1218

Mmulatta

all identical

ENSMMUG00000016520

1229

Fcatus

all identical

ENSFCAG00000003710

1258

Mmusculus

all identical

ENSMUSG00000006567

1267

Ggallus

all identical

ENSGALG00000017021

1248

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all identical

FBgn0030343

1040

Celegans

all identical

Y76A2A.2

1044

Xtropicalis

all identical

ENSXETG00000020713

1214

protein features

start (aa)	end (aa)	feature	details
995	1322	TOPO_DOM	Cytoplasmic (Potential).	lost
1163	1173	HELIX		might get lost (downstream of altered splice site)
1174	1176	TURN		might get lost (downstream of altered splice site)
1177	1184	STRAND		might get lost (downstream of altered splice site)
1187	1194	STRAND		might get lost (downstream of altered splice site)
1267	1267	METAL	Magnesium (By similarity).	might get lost (downstream of altered splice site)
1271	1271	METAL	Magnesium (By similarity).	might get lost (downstream of altered splice site)
1323	1340	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1341	1351	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
1352	1371	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1372	1465	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4065 / 4065

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

1355 / 1355

position of stopcodon in wt / mu cDNA

4222 / 4222

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

158 / 158

chromosome

strand

-1

last intron/exon boundary

3949

theoretical NMD boundary in CDS

3741

length of CDS

4065

coding sequence (CDS) position

3476

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

3633

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

73925

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

52511706

original gDNA sequence snippet

CATGGTGGGGGATGGGGTCAATGACTCCCCGGCCTTGGCCC

altered gDNA sequence snippet

CATGGTGGGGGATGGGGTCAGTGACTCCCCGGCCTTGGCCC

original cDNA sequence snippet

CATGGTGGGGGATGGGGTCAATGACTCCCCGGCCTTGGCCC

altered cDNA sequence snippet

CATGGTGGGGGATGGGGTCAGTGACTCCCCGGCCTTGGCCC

wildtype AA sequence

MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS
TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG
FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN
QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN
QNFNNSETLG HQGSHVVTLQ LRIDGMHCMI SQLEGVQQIS VSLAEGTATV LYNPSVISPE
ELRAAIEDMG FEASVVSESC STNPLGNHSA GNSMVQTTDG TPTSVQEVAP HTGRLPANHA
PDILAKSPQS TRAVAPQKCF LQIKGMTCAS CVSNIERNLQ KEAGVLSVLV ALMAGKAEIK
YDPEVIQPLE IAQFIQDLGF EAAVMEDYAG SDGNIELTIT GMTCASCVHN IESKLTRTNG
ITYASVALAT SKALVKFDPE IIGPRDIIKI IEEIGFHASL AQRNPNAHHL DHKMEIKQWK
KSFLCSLVFG IPVMALMIYM LIPSNEPHQS MVLDHNIIPG LSILNLIFFI LCTFVQLLGG
WYFYVQAYKS LRHRSANMDV LIVLATSIAY VYSLVILVVA VAEKAERSPV TFFDTPPMLF
VFIALGRWLE HLAKSKTSEA LAKLMSLQAT EATVVTLGED NLIIREEQVP MELVQRGDIV
KVVPGGKFPV DGKVLEGNTM ADESLITGEA MPVTKKPGST VIAGSINAHG SVLIKATHVG
NDTTLAQIVK LVEEAQMSKA PIQQLADRFS GYFVPFIIIM STLTLVVWIV IGFIDFGVVQ
RYFPNPNKHI SQTEVIIRFA FQTSITVLCI ACPCSLGLAT PTAVMVGTGV AAQNGILIKG
GKPLEMAHKI KTVMFDKTGT ITHGVPRVMR VLLLGDVATL PLRKVLAVVG TAEASSEHPL
GVAVTKYCKE ELGTETLGYC TDFQAVPGCG IGCKVSNVEG ILAHSERPLS APASHLNEAG
SLPAEKDAVP QTFSVLIGNR EWLRRNGLTI SSDVSDAMTD HEMKGQTAIL VAIDGVLCGM
IAIADAVKQE AALAVHTLQS MGVDVVLITG DNRKTARAIA TQVGINKVFA EVLPSHKVAK
VQELQNKGKK VAMVGDGVND SPALAQADMG VAIGTGTDVA IEAADVVLIR NDLLDVVASI
HLSKRTVRRI RINLVLALIY NLVGIPIAAG VFMPIGIVLQ PWMGSAAMAA SSVSVVLSSL
QLKCYKKPDL ERYEAQAHGH MKPLTASQVS VHIGMDDRWR DSPRATPWDQ VSYVSQVSLS
SLTSDKPSRH SAAADDDGDK WSLLLNGRDE EQYI*

mutated AA sequence

MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS
TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG
FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN
QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN
QNFNNSETLG HQGSHVVTLQ LRIDGMHCMI SQLEGVQQIS VSLAEGTATV LYNPSVISPE
ELRAAIEDMG FEASVVSESC STNPLGNHSA GNSMVQTTDG TPTSVQEVAP HTGRLPANHA
PDILAKSPQS TRAVAPQKCF LQIKGMTCAS CVSNIERNLQ KEAGVLSVLV ALMAGKAEIK
YDPEVIQPLE IAQFIQDLGF EAAVMEDYAG SDGNIELTIT GMTCASCVHN IESKLTRTNG
ITYASVALAT SKALVKFDPE IIGPRDIIKI IEEIGFHASL AQRNPNAHHL DHKMEIKQWK
KSFLCSLVFG IPVMALMIYM LIPSNEPHQS MVLDHNIIPG LSILNLIFFI LCTFVQLLGG
WYFYVQAYKS LRHRSANMDV LIVLATSIAY VYSLVILVVA VAEKAERSPV TFFDTPPMLF
VFIALGRWLE HLAKSKTSEA LAKLMSLQAT EATVVTLGED NLIIREEQVP MELVQRGDIV
KVVPGGKFPV DGKVLEGNTM ADESLITGEA MPVTKKPGST VIAGSINAHG SVLIKATHVG
NDTTLAQIVK LVEEAQMSKA PIQQLADRFS GYFVPFIIIM STLTLVVWIV IGFIDFGVVQ
RYFPNPNKHI SQTEVIIRFA FQTSITVLCI ACPCSLGLAT PTAVMVGTGV AAQNGILIKG
GKPLEMAHKI KTVMFDKTGT ITHGVPRVMR VLLLGDVATL PLRKVLAVVG TAEASSEHPL
GVAVTKYCKE ELGTETLGYC TDFQAVPGCG IGCKVSNVEG ILAHSERPLS APASHLNEAG
SLPAEKDAVP QTFSVLIGNR EWLRRNGLTI SSDVSDAMTD HEMKGQTAIL VAIDGVLCGM
IAIADAVKQE AALAVHTLQS MGVDVVLITG DNRKTARAIA TQVGINKVFA EVLPSHKVAK
VQELQNKGKK VAMVGDGVSD SPALAQADMG VAIGTGTDVA IEAADVVLIR NDLLDVVASI
HLSKRTVRRI RINLVLALIY NLVGIPIAAG VFMPIGIVLQ PWMGSAAMAA SSVSVVLSSL
QLKCYKKPDL ERYEAQAHGH MKPLTASQVS VHIGMDDRWR DSPRATPWDQ VSYVSQVSLS
SLTSDKPSRH SAAADDDGDK WSLLLNGRDE EQYI*

speed

0.30 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999971309494 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM161467)
known disease mutation at this position (HGMD CM930060)
known disease mutation at this position (HGMD CM994116)
known disease mutation: rs3859 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr13:52511706T>CN/A show variant in all transcripts IGV

HGNC symbol

ATP7B

Ensembl transcript ID

ENST00000400370

Genbank transcript ID

N/A

UniProt peptide

P35670

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2519A>G
cDNA.2593A>G
g.73925A>G

AA changes

N840S Score: 46 explain score(s)

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

840

frameshift

known variant

Reference ID: rs121907990

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	18	18

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.499	0.82
	4.818	0.998
(flanking)	4.818	0.998

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	73924	0.89	mu: GGGTCAGTGACTCCC	GTCA\|gtga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

840

mutated

all conserved

840

Ptroglodytes

all identical

ENSPTRG00000005897

1218

Mmulatta

all identical

ENSMMUG00000016520

1229

Fcatus

all identical

ENSFCAG00000003710

1258

Mmusculus

all identical

ENSMUSG00000006567

1267

Ggallus

all identical

ENSGALG00000017021

1248

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all identical

FBgn0030343

1040

Celegans

all identical

Y76A2A.2

1044

Xtropicalis

all identical

ENSXETG00000020713

1214

protein features

start (aa)	end (aa)	feature	details
786	919	TOPO_DOM	Cytoplasmic (Potential).	lost
920	942	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
943	972	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
973	994	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
995	1322	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
1027	1027	ACT_SITE	4-aspartylphosphate intermediate (By similarity).	might get lost (downstream of altered splice site)
1039	1044	STRAND		might get lost (downstream of altered splice site)
1048	1050	TURN		might get lost (downstream of altered splice site)
1053	1064	HELIX		might get lost (downstream of altered splice site)
1072	1083	HELIX		might get lost (downstream of altered splice site)
1091	1097	STRAND		might get lost (downstream of altered splice site)
1098	1100	TURN		might get lost (downstream of altered splice site)
1101	1107	STRAND		might get lost (downstream of altered splice site)
1109	1113	HELIX		might get lost (downstream of altered splice site)
1127	1130	STRAND		might get lost (downstream of altered splice site)
1143	1149	STRAND		might get lost (downstream of altered splice site)
1151	1158	HELIX		might get lost (downstream of altered splice site)
1163	1173	HELIX		might get lost (downstream of altered splice site)
1174	1176	TURN		might get lost (downstream of altered splice site)
1177	1184	STRAND		might get lost (downstream of altered splice site)
1187	1194	STRAND		might get lost (downstream of altered splice site)
1267	1267	METAL	Magnesium (By similarity).	might get lost (downstream of altered splice site)
1271	1271	METAL	Magnesium (By similarity).	might get lost (downstream of altered splice site)
1323	1340	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1341	1351	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
1352	1371	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1372	1465	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3108 / 3108

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

1036 / 1036

position of stopcodon in wt / mu cDNA

3182 / 3182

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

75 / 75

chromosome

strand

-1

last intron/exon boundary

2909

theoretical NMD boundary in CDS

2784

length of CDS

3108

coding sequence (CDS) position

2519

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

2593

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

73925

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

52511706

original gDNA sequence snippet

CATGGTGGGGGATGGGGTCAATGACTCCCCGGCCTTGGCCC

altered gDNA sequence snippet

CATGGTGGGGGATGGGGTCAGTGACTCCCCGGCCTTGGCCC

original cDNA sequence snippet

CATGGTGGGGGATGGGGTCAATGACTCCCCGGCCTTGGCCC

altered cDNA sequence snippet

CATGGTGGGGGATGGGGTCAGTGACTCCCCGGCCTTGGCCC

wildtype AA sequence

MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS
TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG
FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN
QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN
QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK
YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST
TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM
GFEASVVSGE AMPVTKKPGS TVIAGSINAH GSVLIKATHV GNDTTLAQIV KLVEEAQMSK
APIQQLADRF SGYFVPFIII MSTLTLVVWI VIGFIDFGVV QRYFPNPNKH ISQTEVIIRF
AFQTSITVLC IACPCSLGLA TPTAVMVGTG VAAQNGILIK GGKPLEMAHK IKTVMFDKTG
TITHGVPRVM RVLLLGDVAT LPLRKVLAVV GTAEASSEHP LGVAVTKYCK EELGTETLGY
CTDFQAVPGC GIGCKVSNVE GILAHSERPL SAPASHLNEA GSLPAEKDAV PQTFSVLIGN
REWLRRNGLT ISSDVSDAMT DHEMKGQTAI LVAIDGVLCG MIAIADAVKQ EAALAVHTLQ
SMGVDVVLIT GDNRKTARAI ATQVGINKVF AEVLPSHKVA KVQELQNKGK KVAMVGDGVN
DSPALAQADM GVAIGTGTDV AIEAADVVLI RNDLLDVVAS IHLSKRTVRR IRINLVLALI
YNLVGIPIAA GVFMPIGIVL QPWMGSAAMA ASSVSVVLSS LQLKCYKKPD LERYEAQAHG
HMKPLTASQV SVHIGMDDRW RDSPRATPWD QVSYVSQVSL SSLTSDKPSR HSAAADDDGD
KWSLLLNGRD EEQYI*

mutated AA sequence

MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS
TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG
FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN
QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN
QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK
YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST
TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM
GFEASVVSGE AMPVTKKPGS TVIAGSINAH GSVLIKATHV GNDTTLAQIV KLVEEAQMSK
APIQQLADRF SGYFVPFIII MSTLTLVVWI VIGFIDFGVV QRYFPNPNKH ISQTEVIIRF
AFQTSITVLC IACPCSLGLA TPTAVMVGTG VAAQNGILIK GGKPLEMAHK IKTVMFDKTG
TITHGVPRVM RVLLLGDVAT LPLRKVLAVV GTAEASSEHP LGVAVTKYCK EELGTETLGY
CTDFQAVPGC GIGCKVSNVE GILAHSERPL SAPASHLNEA GSLPAEKDAV PQTFSVLIGN
REWLRRNGLT ISSDVSDAMT DHEMKGQTAI LVAIDGVLCG MIAIADAVKQ EAALAVHTLQ
SMGVDVVLIT GDNRKTARAI ATQVGINKVF AEVLPSHKVA KVQELQNKGK KVAMVGDGVS
DSPALAQADM GVAIGTGTDV AIEAADVVLI RNDLLDVVAS IHLSKRTVRR IRINLVLALI
YNLVGIPIAA GVFMPIGIVL QPWMGSAAMA ASSVSVVLSS LQLKCYKKPD LERYEAQAHG
HMKPLTASQV SVHIGMDDRW RDSPRATPWD QVSYVSQVSL SSLTSDKPSR HSAAADDDGD
KWSLLLNGRD EEQYI*

speed

0.24 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999971309494 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM161467)
known disease mutation at this position (HGMD CM930060)
known disease mutation at this position (HGMD CM994116)
known disease mutation: rs3859 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr13:52511706T>CN/A show variant in all transcripts IGV

HGNC symbol

ATP7B

Ensembl transcript ID

ENST00000418097

Genbank transcript ID

N/A

UniProt peptide

P35670

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3614A>G
cDNA.3688A>G
g.73925A>G

AA changes

N1205S Score: 46 explain score(s)

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

1205

frameshift

known variant

Reference ID: rs121907990

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	18	18

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.499	0.82
	4.818	0.998
(flanking)	4.818	0.998

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	73924	0.89	mu: GGGTCAGTGACTCCC	GTCA\|gtga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1205

mutated

all conserved

1205

Ptroglodytes

all identical

ENSPTRG00000005897

1218

Mmulatta

all identical

ENSMMUG00000016520

1229

Fcatus

all identical

ENSFCAG00000003710

1258

Mmusculus

all identical

ENSMUSG00000006567

1267

Ggallus

all identical

ENSGALG00000017021

1248

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all identical

FBgn0030343

1040

Celegans

all identical

Y76A2A.2

1044

Xtropicalis

all identical

ENSXETG00000020713

1214

protein features

start (aa)	end (aa)	feature	details
995	1322	TOPO_DOM	Cytoplasmic (Potential).	lost
1267	1267	METAL	Magnesium (By similarity).	might get lost (downstream of altered splice site)
1271	1271	METAL	Magnesium (By similarity).	might get lost (downstream of altered splice site)
1323	1340	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1341	1351	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
1352	1371	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1372	1465	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4203 / 4203

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

1401 / 1401

position of stopcodon in wt / mu cDNA

4277 / 4277

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

75 / 75

chromosome

strand

-1

last intron/exon boundary

4004

theoretical NMD boundary in CDS

3879

length of CDS

4203

coding sequence (CDS) position

3614

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

3688

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

73925

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

52511706

original gDNA sequence snippet

CATGGTGGGGGATGGGGTCAATGACTCCCCGGCCTTGGCCC

altered gDNA sequence snippet

CATGGTGGGGGATGGGGTCAGTGACTCCCCGGCCTTGGCCC

original cDNA sequence snippet

CATGGTGGGGGATGGGGTCAATGACTCCCCGGCCTTGGCCC

altered cDNA sequence snippet

CATGGTGGGGGATGGGGTCAGTGACTCCCCGGCCTTGGCCC

wildtype AA sequence

MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS
TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG
FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN
QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN
QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK
YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST
TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM
GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ
STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL
EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA
TSKALVKFDP EIIGPRDIIK IIEEIGFHAS LAQRNPNAHH LDHKMEIKQW KKSFLCSLVF
GIPVMALMIY MLIPSNEPHQ SMVLDHNIIP GLSILNLIFF ILCTFVQLLG GWYFYVQAYK
SLRHRSANMD VLIVLATSIA YVYSLVILVV AVAEKAERSP VTFFDTPPML FVFIALGRWL
EHLAKSKTSE ALAKLMSLQA TEATVVTLGE DNLIIREEQV PMELVQRGDI VKVVPGGKFP
VDGKVLEGNT MADESLITGE AMPVTKKPGS TVIAGSINAH GSVLIKATHV GNDTTLAQIV
KLVEEAQMSK APIQQLADRF SGYFVPFIII MSTLTLVVWI VIGFIDFGVV QRYFPIKTVM
FDKTGTITHG VPRVMRVLLL GDVATLPLRK VLAVVGTAEA SSEHPLGVAV TKYCKEELGT
ETLGYCTDFQ AVPGCGIGCK VSNVEGILAH SERPLSAPAS HLNEAGSLPA EKDAVPQTFS
VLIGNREWLR RNGLTISSDV SDAMTDHEMK GQTAILVAID GVLCGMIAIA DAVKQEAALA
VHTLQSMGVD VVLITGDNRK TARAIATQVG INKVFAEVLP SHKVAKVQEL QNKGKKVAMV
GDGVNDSPAL AQADMGVAIG TGTDVAIEAA DVVLIRNDLL DVVASIHLSK RTVRRIRINL
VLALIYNLVG IPIAAGVFMP IGIVLQPWMG SAAMAASSVS VVLSSLQLKC YKKPDLERYE
AQAHGHMKPL TASQVSVHIG MDDRWRDSPR ATPWDQVSYV SQVSLSSLTS DKPSRHSAAA
DDDGDKWSLL LNGRDEEQYI *

mutated AA sequence

MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS
TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG
FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN
QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN
QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK
YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST
TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM
GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ
STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL
EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA
TSKALVKFDP EIIGPRDIIK IIEEIGFHAS LAQRNPNAHH LDHKMEIKQW KKSFLCSLVF
GIPVMALMIY MLIPSNEPHQ SMVLDHNIIP GLSILNLIFF ILCTFVQLLG GWYFYVQAYK
SLRHRSANMD VLIVLATSIA YVYSLVILVV AVAEKAERSP VTFFDTPPML FVFIALGRWL
EHLAKSKTSE ALAKLMSLQA TEATVVTLGE DNLIIREEQV PMELVQRGDI VKVVPGGKFP
VDGKVLEGNT MADESLITGE AMPVTKKPGS TVIAGSINAH GSVLIKATHV GNDTTLAQIV
KLVEEAQMSK APIQQLADRF SGYFVPFIII MSTLTLVVWI VIGFIDFGVV QRYFPIKTVM
FDKTGTITHG VPRVMRVLLL GDVATLPLRK VLAVVGTAEA SSEHPLGVAV TKYCKEELGT
ETLGYCTDFQ AVPGCGIGCK VSNVEGILAH SERPLSAPAS HLNEAGSLPA EKDAVPQTFS
VLIGNREWLR RNGLTISSDV SDAMTDHEMK GQTAILVAID GVLCGMIAIA DAVKQEAALA
VHTLQSMGVD VVLITGDNRK TARAIATQVG INKVFAEVLP SHKVAKVQEL QNKGKKVAMV
GDGVSDSPAL AQADMGVAIG TGTDVAIEAA DVVLIRNDLL DVVASIHLSK RTVRRIRINL
VLALIYNLVG IPIAAGVFMP IGIVLQPWMG SAAMAASSVS VVLSSLQLKC YKKPDLERYE
AQAHGHMKPL TASQVSVHIG MDDRWRDSPR ATPWDQVSYV SQVSLSSLTS DKPSRHSAAA
DDDGDKWSLL LNGRDEEQYI *

speed

0.25 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999971309494 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM161467)
known disease mutation at this position (HGMD CM930060)
known disease mutation at this position (HGMD CM994116)
known disease mutation: rs3859 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr13:52511706T>CN/A show variant in all transcripts IGV

HGNC symbol

ATP7B

Ensembl transcript ID

ENST00000417240

Genbank transcript ID

N/A

UniProt peptide

P35670

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1442A>G
cDNA.1584A>G
g.73925A>G

AA changes

N481S Score: 46 explain score(s)

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

481

frameshift

known variant

Reference ID: rs121907990

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	18	18

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.499	0.82
	4.818	0.998
(flanking)	4.818	0.998

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	73924	0.89	mu: GGGTCAGTGACTCCC	GTCA\|gtga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

481

mutated

all conserved

481

Ptroglodytes

all identical

ENSPTRG00000005897

1218

Mmulatta

all identical

ENSMMUG00000016520

1229

Fcatus

all identical

ENSFCAG00000003710

1258

Mmusculus

all identical

ENSMUSG00000006567

1267

Ggallus

all identical

ENSGALG00000017021

1248

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all identical

FBgn0030343

1040

Celegans

all identical

Y76A2A.2

1044

Xtropicalis

all identical

ENSXETG00000020713

1214

protein features

start (aa)	end (aa)	feature	details
1	653	TOPO_DOM	Cytoplasmic (Potential).	lost
488	488	CONFLICT	Q -> G (in Ref. 8; AAA16173).	might get lost (downstream of altered splice site)
488	495	STRAND		might get lost (downstream of altered splice site)
489	555	DOMAIN	HMA 5.	might get lost (downstream of altered splice site)
499	501	STRAND		might get lost (downstream of altered splice site)
502	511	HELIX		might get lost (downstream of altered splice site)
519	522	STRAND		might get lost (downstream of altered splice site)
523	526	TURN		might get lost (downstream of altered splice site)
527	532	STRAND		might get lost (downstream of altered splice site)
534	536	TURN		might get lost (downstream of altered splice site)
539	549	HELIX		might get lost (downstream of altered splice site)
552	555	STRAND		might get lost (downstream of altered splice site)
562	572	STRAND		might get lost (downstream of altered splice site)
565	631	DOMAIN	HMA 6.	might get lost (downstream of altered splice site)
576	588	HELIX		might get lost (downstream of altered splice site)
589	591	STRAND		might get lost (downstream of altered splice site)
594	598	STRAND		might get lost (downstream of altered splice site)
599	602	TURN		might get lost (downstream of altered splice site)
603	607	STRAND		might get lost (downstream of altered splice site)
610	612	TURN		might get lost (downstream of altered splice site)
615	625	HELIX		might get lost (downstream of altered splice site)
628	630	STRAND		might get lost (downstream of altered splice site)
635	635	CONFLICT	N -> T (in Ref. 8; AAA16173).	might get lost (downstream of altered splice site)
654	675	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
676	697	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
698	717	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
718	724	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
725	745	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
746	764	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
765	785	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
767	767	CONFLICT	P -> L (in Ref. 8; AAA16173).	might get lost (downstream of altered splice site)
786	919	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
837	837	CONFLICT	G -> A (in Ref. 8; AAA16173).	might get lost (downstream of altered splice site)
920	942	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
943	972	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
973	994	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
995	1322	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
1027	1027	ACT_SITE	4-aspartylphosphate intermediate (By similarity).	might get lost (downstream of altered splice site)
1039	1044	STRAND		might get lost (downstream of altered splice site)
1048	1050	TURN		might get lost (downstream of altered splice site)
1053	1064	HELIX		might get lost (downstream of altered splice site)
1072	1083	HELIX		might get lost (downstream of altered splice site)
1091	1097	STRAND		might get lost (downstream of altered splice site)
1098	1100	TURN		might get lost (downstream of altered splice site)
1101	1107	STRAND		might get lost (downstream of altered splice site)
1109	1113	HELIX		might get lost (downstream of altered splice site)
1127	1130	STRAND		might get lost (downstream of altered splice site)
1143	1149	STRAND		might get lost (downstream of altered splice site)
1151	1158	HELIX		might get lost (downstream of altered splice site)
1163	1173	HELIX		might get lost (downstream of altered splice site)
1174	1176	TURN		might get lost (downstream of altered splice site)
1177	1184	STRAND		might get lost (downstream of altered splice site)
1187	1194	STRAND		might get lost (downstream of altered splice site)
1267	1267	METAL	Magnesium (By similarity).	might get lost (downstream of altered splice site)
1271	1271	METAL	Magnesium (By similarity).	might get lost (downstream of altered splice site)
1323	1340	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1341	1351	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
1352	1371	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1372	1465	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2031 / 2031

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

677 / 677

position of stopcodon in wt / mu cDNA

2173 / 2173

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

143 / 143

chromosome

strand

-1

last intron/exon boundary

1900

theoretical NMD boundary in CDS

1707

length of CDS

2031

coding sequence (CDS) position

1442

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

1584

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

73925

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

52511706

original gDNA sequence snippet

CATGGTGGGGGATGGGGTCAATGACTCCCCGGCCTTGGCCC

altered gDNA sequence snippet

CATGGTGGGGGATGGGGTCAGTGACTCCCCGGCCTTGGCCC

original cDNA sequence snippet

CATGGTGGGGGATGGGGTCAATGACTCCCCGGCCTTGGCCC

altered cDNA sequence snippet

CATGGTGGGGGATGGGGTCAGTGACTCCCCGGCCTTGGCCC

wildtype AA sequence

MDVLIVLATS IAYVYSLVIL VVAVAEKAER SPVTFFDTPP MLFVFIALGR WLEHLAKSKT
SEALAKLMSL QATEATVVTL GEDNLIIREE QVPMELVQRG DIVKVVPGGK FPVDGKVLEG
NTMADESLIT GEAMPVTKKP GSTVIAGSIN AHGSVLIKAT HVGNDTTLAQ IVKLVEEAQM
SKAPIQQLAD RFSGYFVPFI IIMSTLTLVV WIVIGFIDFG VVQRYFPNPN KHISQTEVII
RFAFQTSITV LCIACPCSLG LATPTAVMVG TGVAAQNGIL IKGGKPLEMA HKELGTETLG
YCTDFQAVPG CGIGCKVSNV EGILAHSERP LSAPASHLNE AGSLPAEKDA VPQTFSVLIG
NREWLRRNGL TISSDVSDAM TDHEMKGQTA ILVAIDGVLC GMIAIADAVK QEAALAVHTL
QSMGVDVVLI TGDNRKTARA IATQVGINKV FAEVLPSHKV AKVQELQNKG KKVAMVGDGV
NDSPALAQAD MGVAIGTGTD VAIEAADVVL IRNDLLDVVA SIHLSKRTVR RIRINLVLAL
IYNLVGIPIA AGVFMPIGIV LQPWMGSAAM AASSVSVVLS SLQLKCYKKP DLERYEAQAH
GHMKPLTASQ VSVHIGMDDR WRDSPRATPW DQVSYVSQVS LSSLTSDKPS RHSAAADDDG
DKWSLLLNGR DEEQYI*

mutated AA sequence

MDVLIVLATS IAYVYSLVIL VVAVAEKAER SPVTFFDTPP MLFVFIALGR WLEHLAKSKT
SEALAKLMSL QATEATVVTL GEDNLIIREE QVPMELVQRG DIVKVVPGGK FPVDGKVLEG
NTMADESLIT GEAMPVTKKP GSTVIAGSIN AHGSVLIKAT HVGNDTTLAQ IVKLVEEAQM
SKAPIQQLAD RFSGYFVPFI IIMSTLTLVV WIVIGFIDFG VVQRYFPNPN KHISQTEVII
RFAFQTSITV LCIACPCSLG LATPTAVMVG TGVAAQNGIL IKGGKPLEMA HKELGTETLG
YCTDFQAVPG CGIGCKVSNV EGILAHSERP LSAPASHLNE AGSLPAEKDA VPQTFSVLIG
NREWLRRNGL TISSDVSDAM TDHEMKGQTA ILVAIDGVLC GMIAIADAVK QEAALAVHTL
QSMGVDVVLI TGDNRKTARA IATQVGINKV FAEVLPSHKV AKVQELQNKG KKVAMVGDGV
SDSPALAQAD MGVAIGTGTD VAIEAADVVL IRNDLLDVVA SIHLSKRTVR RIRINLVLAL
IYNLVGIPIA AGVFMPIGIV LQPWMGSAAM AASSVSVVLS SLQLKCYKKP DLERYEAQAH
GHMKPLTASQ VSVHIGMDDR WRDSPRATPW DQVSYVSQVS LSSLTSDKPS RHSAAADDDG
DKWSLLLNGR DEEQYI*

speed

0.24 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999993665271 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM161467)
known disease mutation at this position (HGMD CM930060)
known disease mutation at this position (HGMD CM994116)
known disease mutation: rs3859 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr13:52511706T>CN/A show variant in all transcripts IGV

HGNC symbol

ATP7B

Ensembl transcript ID

ENST00000448424

Genbank transcript ID

N/A

UniProt peptide

P35670

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3575A>G
cDNA.3649A>G
g.73925A>G

AA changes

N1192S Score: 46 explain score(s)

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

1192

frameshift

known variant

Reference ID: rs121907990

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	18	18

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.499	0.82
	4.818	0.998
(flanking)	4.818	0.998

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	73924	0.89	mu: GGGTCAGTGACTCCC	GTCA\|gtga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1192

mutated

all conserved

1192

Ptroglodytes

all identical

ENSPTRG00000005897

1218

Mmulatta

all identical

ENSMMUG00000016520

1229

Fcatus

all identical

ENSFCAG00000003710

1258

Mmusculus

all identical

ENSMUSG00000006567

1267

Ggallus

all identical

ENSGALG00000017021

1248

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all identical

FBgn0030343

1040

Celegans

all identical

Y76A2A.2

1044

Xtropicalis

all identical

ENSXETG00000020713

1214

protein features

start (aa)	end (aa)	feature	details
995	1322	TOPO_DOM	Cytoplasmic (Potential).	lost
1187	1194	STRAND		lost
1267	1267	METAL	Magnesium (By similarity).	might get lost (downstream of altered splice site)
1271	1271	METAL	Magnesium (By similarity).	might get lost (downstream of altered splice site)
1323	1340	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1341	1351	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
1352	1371	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1372	1465	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4164 / 4164

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

1388 / 1388

position of stopcodon in wt / mu cDNA

4238 / 4238

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

75 / 75

chromosome

strand

-1

last intron/exon boundary

3965

theoretical NMD boundary in CDS

3840

length of CDS

4164

coding sequence (CDS) position

3575

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

3649

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

73925

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

52511706

original gDNA sequence snippet

CATGGTGGGGGATGGGGTCAATGACTCCCCGGCCTTGGCCC

altered gDNA sequence snippet

CATGGTGGGGGATGGGGTCAGTGACTCCCCGGCCTTGGCCC

original cDNA sequence snippet

CATGGTGGGGGATGGGGTCAATGACTCCCCGGCCTTGGCCC

altered cDNA sequence snippet

CATGGTGGGGGATGGGGTCAGTGACTCCCCGGCCTTGGCCC

wildtype AA sequence

MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS
TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG
FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN
QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN
QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK
YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST
TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM
GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ
STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL
EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA
TSKALVKFDP EIIGPRDIIK IIEEIGFHAS LAQRNPNAHH LDHKMEIKQW KKSFLCSLVF
GIPVMALMIY MLIPSNEPHQ SMVLDHNIIP GLSILNLIFF ILCTFVQSKT SEALAKLMSL
QATEATVVTL GEDNLIIREE QVPMELVQRG DIVKVVPGGK FPVDGKVLEG NTMADESLIT
GEAMPVTKKP GSTVIAGSIN AHGSVLIKAT HVGNDTTLAQ IVKLVEEAQM SKAPIQQLAD
RFSGYFVPFI IIMSTLTLVV WIVIGFIDFG VVQRYFPNPN KHISQTEVII RFAFQTSITV
LCIACPCSLG LATPTAVMVG TGVAAQNGIL IKGGKPLEMA HKIKTVMFDK TGTITHGVPR
VMRVLLLGDV ATLPLRKVLA VVGTAEASSE HPLGVAVTKY CKEELGTETL GYCTDFQAVP
GCGIGCKVSN VEGILAHSER PLSAPASHLN EAGSLPAEKD AVPQTFSVLI GNREWLRRNG
LTISSDVSDA MTDHEMKGQT AILVAIDGVL CGMIAIADAV KQEAALAVHT LQSMGVDVVL
ITGDNRKTAR AIATQVGINK VFAEVLPSHK VAKVQELQNK GKKVAMVGDG VNDSPALAQA
DMGVAIGTGT DVAIEAADVV LIRNDLLDVV ASIHLSKRTV RRIRINLVLA LIYNLVGIPI
AAGVFMPIGI VLQPWMGSAA MAASSVSVVL SSLQLKCYKK PDLERYEAQA HGHMKPLTAS
QVSVHIGMDD RWRDSPRATP WDQVSYVSQV SLSSLTSDKP SRHSAAADDD GDKWSLLLNG
RDEEQYI*

mutated AA sequence

MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS
TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG
FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN
QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN
QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK
YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST
TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM
GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ
STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL
EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA
TSKALVKFDP EIIGPRDIIK IIEEIGFHAS LAQRNPNAHH LDHKMEIKQW KKSFLCSLVF
GIPVMALMIY MLIPSNEPHQ SMVLDHNIIP GLSILNLIFF ILCTFVQSKT SEALAKLMSL
QATEATVVTL GEDNLIIREE QVPMELVQRG DIVKVVPGGK FPVDGKVLEG NTMADESLIT
GEAMPVTKKP GSTVIAGSIN AHGSVLIKAT HVGNDTTLAQ IVKLVEEAQM SKAPIQQLAD
RFSGYFVPFI IIMSTLTLVV WIVIGFIDFG VVQRYFPNPN KHISQTEVII RFAFQTSITV
LCIACPCSLG LATPTAVMVG TGVAAQNGIL IKGGKPLEMA HKIKTVMFDK TGTITHGVPR
VMRVLLLGDV ATLPLRKVLA VVGTAEASSE HPLGVAVTKY CKEELGTETL GYCTDFQAVP
GCGIGCKVSN VEGILAHSER PLSAPASHLN EAGSLPAEKD AVPQTFSVLI GNREWLRRNG
LTISSDVSDA MTDHEMKGQT AILVAIDGVL CGMIAIADAV KQEAALAVHT LQSMGVDVVL
ITGDNRKTAR AIATQVGINK VFAEVLPSHK VAKVQELQNK GKKVAMVGDG VSDSPALAQA
DMGVAIGTGT DVAIEAADVV LIRNDLLDVV ASIHLSKRTV RRIRINLVLA LIYNLVGIPI
AAGVFMPIGI VLQPWMGSAA MAASSVSVVL SSLQLKCYKK PDLERYEAQA HGHMKPLTAS
QVSVHIGMDD RWRDSPRATP WDQVSYVSQV SLSSLTSDKP SRHSAAADDD GDKWSLLLNG
RDEEQYI*

speed

0.40 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999995292395 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM161467)
known disease mutation at this position (HGMD CM930060)
known disease mutation at this position (HGMD CM994116)
known disease mutation: rs3859 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr13:52511706T>CN/A show variant in all transcripts IGV

HGNC symbol

ATP7B

Ensembl transcript ID

ENST00000344297

Genbank transcript ID

NM_001005918

UniProt peptide

P35670

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3188A>G
cDNA.3345A>G
g.73925A>G

AA changes

N1063S Score: 46 explain score(s)

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

1063

frameshift

known variant

Reference ID: rs121907990

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	18	18

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.499	0.82
	4.818	0.998
(flanking)	4.818	0.998

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	73924	0.89	mu: GGGTCAGTGACTCCC	GTCA\|gtga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1063

mutated

all conserved

1063

Ptroglodytes

all identical

ENSPTRG00000005897

1218

Mmulatta

all identical

ENSMMUG00000016520

1229

Fcatus

all identical

ENSFCAG00000003710

1258

Mmusculus

all identical

ENSMUSG00000006567

1267

Ggallus

all identical

ENSGALG00000017021

1248

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

all identical

FBgn0030343

1040

Celegans

all identical

Y76A2A.2

1044

Xtropicalis

all identical

ENSXETG00000020713

1214

protein features

start (aa)	end (aa)	feature	details
995	1322	TOPO_DOM	Cytoplasmic (Potential).	lost
1053	1064	HELIX		lost
1072	1083	HELIX		might get lost (downstream of altered splice site)
1091	1097	STRAND		might get lost (downstream of altered splice site)
1098	1100	TURN		might get lost (downstream of altered splice site)
1101	1107	STRAND		might get lost (downstream of altered splice site)
1109	1113	HELIX		might get lost (downstream of altered splice site)
1127	1130	STRAND		might get lost (downstream of altered splice site)
1143	1149	STRAND		might get lost (downstream of altered splice site)
1151	1158	HELIX		might get lost (downstream of altered splice site)
1163	1173	HELIX		might get lost (downstream of altered splice site)
1174	1176	TURN		might get lost (downstream of altered splice site)
1177	1184	STRAND		might get lost (downstream of altered splice site)
1187	1194	STRAND		might get lost (downstream of altered splice site)
1267	1267	METAL	Magnesium (By similarity).	might get lost (downstream of altered splice site)
1271	1271	METAL	Magnesium (By similarity).	might get lost (downstream of altered splice site)
1323	1340	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1341	1351	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
1352	1371	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1372	1465	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3777 / 3777

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

1259 / 1259

position of stopcodon in wt / mu cDNA

3934 / 3934

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

158 / 158

chromosome

strand

-1

last intron/exon boundary

3661

theoretical NMD boundary in CDS

3453

length of CDS

3777

coding sequence (CDS) position

3188

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

3345

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

73925

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

52511706

original gDNA sequence snippet

CATGGTGGGGGATGGGGTCAATGACTCCCCGGCCTTGGCCC

altered gDNA sequence snippet

CATGGTGGGGGATGGGGTCAGTGACTCCCCGGCCTTGGCCC

original cDNA sequence snippet

CATGGTGGGGGATGGGGTCAATGACTCCCCGGCCTTGGCCC

altered cDNA sequence snippet

CATGGTGGGGGATGGGGTCAGTGACTCCCCGGCCTTGGCCC

wildtype AA sequence

MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS
TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG
FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN
QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN
QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK
YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST
TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM
GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ
STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL
EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA
TSKALVKFDP EIIGPRDIIK IIESKTSEAL AKLMSLQATE ATVVTLGEDN LIIREEQVPM
ELVQRGDIVK VVPGGKFPVD GKVLEGNTMA DESLITGEAM PVTKKPGSTV IAGSINAHGS
VLIKATHVGN DTTLAQIVKL VEEAQMSKNP NKHISQTEVI IRFAFQTSIT VLCIACPCSL
GLATPTAVMV GTGVAAQNGI LIKGGKPLEM AHKIKTVMFD KTGTITHGVP RVMRVLLLGD
VATLPLRKVL AVVGTAEASS EHPLGVAVTK YCKEELGTET LGYCTDFQAV PGCGIGCKVS
NVEGILAHSE RPLSAPASHL NEAGSLPAEK DAVPQTFSVL IGNREWLRRN GLTISSDVSD
AMTDHEMKGQ TAILVAIDGV LCGMIAIADA VKQEAALAVH TLQSMGVDVV LITGDNRKTA
RAIATQVGIN KVFAEVLPSH KVAKVQELQN KGKKVAMVGD GVNDSPALAQ ADMGVAIGTG
TDVAIEAADV VLIRNDLLDV VASIHLSKRT VRRIRINLVL ALIYNLVGIP IAAGVFMPIG
IVLQPWMGSA AMAASSVSVV LSSLQLKCYK KPDLERYEAQ AHGHMKPLTA SQVSVHIGMD
DRWRDSPRAT PWDQVSYVSQ VSLSSLTSDK PSRHSAAADD DGDKWSLLLN GRDEEQYI*

mutated AA sequence

MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS
TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG
FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN
QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN
QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK
YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST
TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM
GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ
STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL
EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA
TSKALVKFDP EIIGPRDIIK IIESKTSEAL AKLMSLQATE ATVVTLGEDN LIIREEQVPM
ELVQRGDIVK VVPGGKFPVD GKVLEGNTMA DESLITGEAM PVTKKPGSTV IAGSINAHGS
VLIKATHVGN DTTLAQIVKL VEEAQMSKNP NKHISQTEVI IRFAFQTSIT VLCIACPCSL
GLATPTAVMV GTGVAAQNGI LIKGGKPLEM AHKIKTVMFD KTGTITHGVP RVMRVLLLGD
VATLPLRKVL AVVGTAEASS EHPLGVAVTK YCKEELGTET LGYCTDFQAV PGCGIGCKVS
NVEGILAHSE RPLSAPASHL NEAGSLPAEK DAVPQTFSVL IGNREWLRRN GLTISSDVSD
AMTDHEMKGQ TAILVAIDGV LCGMIAIADA VKQEAALAVH TLQSMGVDVV LITGDNRKTA
RAIATQVGIN KVFAEVLPSH KVAKVQELQN KGKKVAMVGD GVSDSPALAQ ADMGVAIGTG
TDVAIEAADV VLIRNDLLDV VASIHLSKRT VRRIRINLVL ALIYNLVGIP IAAGVFMPIG
IVLQPWMGSA AMAASSVSVV LSSLQLKCYK KPDLERYEAQ AHGHMKPLTA SQVSVHIGMD
DRWRDSPRAT PWDQVSYVSQ VSLSSLTSDK PSRHSAAADD DGDKWSLLLN GRDEEQYI*

speed

0.11 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

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems