Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
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 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 5.75 s - this script 5.911092 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ATP7Bpolymorphism_automatic0.999967635277737simple_aaeaffectedK832Rsingle base exchangers1061472show file
ATP7Bpolymorphism_automatic0.999980509953689simple_aaeaffectedK104Rsingle base exchangers1061472show file
ATP7Bpolymorphism_automatic0.999996649886269simple_aaeaffectedK832Rsingle base exchangers1061472show file
ATP7Bpolymorphism_automatic0.999996649886269simple_aaeaffectedK721Rsingle base exchangers1061472show file
ATP7Bpolymorphism_automatic0.999996649886269simple_aaeaffectedK754Rsingle base exchangers1061472show file
ATP7Bpolymorphism_automatic0.999998097291971simple_aaeaffectedK670Rsingle base exchangers1061472show file
ATP7Bpolymorphism_automatic1without_aaeaffectedsingle base exchangers1061472show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 3.23647222624967e-05 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM116966)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52524488T>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.2495A>G
cDNA.2569A>G
g.61143A>G
AA changes K832R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 832
frameshift no
known variant Reference ID: rs1061472
databasehomozygous (C/C)heterozygousallele carriers
1000G63612441880
ExAC17668-256915099

known disease mutation at this position, please check HGMD for details (HGMD ID CM116966)
regulatory features H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.061
3.5271
(flanking)3.3511
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained611420.84mu: TCGTCAGGGTGGTCC GTCA|gggt
distance from splice site 48
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      832PMELVQRGDIVKVVPGGKFPVDGK
mutated  all conserved    832PMELVQRGDIVRVVPGGKFP
Ptroglodytes  all identical  ENSPTRG00000005897  780PMELVQRGDIVKVVPGGKFP
Mmulatta  all identical  ENSMMUG00000016520  815PMELVQRGDIVKVVPGGKFPVDG
Fcatus  all identical  ENSFCAG00000003710  820PMELVQRGDVIKVVPGGKFPVDG
Mmusculus  all identical  ENSMUSG00000006567  834PMELVQRGDVIKVVPGGKFP
Ggallus  all identical  ENSGALG00000017021  809PVELVQRGDIVKVVPGGKFPVDG
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0030343  583SLITGESMPVAKRKGSVVIGG
Celegans  all identical  Y76A2A.2  597NIELVQRNDLIKVVPGAKVPVDG
Xtropicalis  all identical  ENSXETG00000020713  787AVELVQRGDIVKVVPGGKFPVDG
protein features
start (aa)end (aa)featuredetails 
786919TOPO_DOMCytoplasmic (Potential).lost
837837CONFLICTG -> A (in Ref. 8; AAA16173).might get lost (downstream of altered splice site)
920942TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
943972TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
973994TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
9951322TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
10271027ACT_SITE4-aspartylphosphate intermediate (By similarity).might get lost (downstream of altered splice site)
10391044STRANDmight get lost (downstream of altered splice site)
10481050TURNmight get lost (downstream of altered splice site)
10531064HELIXmight get lost (downstream of altered splice site)
10721083HELIXmight get lost (downstream of altered splice site)
10911097STRANDmight get lost (downstream of altered splice site)
10981100TURNmight get lost (downstream of altered splice site)
11011107STRANDmight get lost (downstream of altered splice site)
11091113HELIXmight get lost (downstream of altered splice site)
11271130STRANDmight get lost (downstream of altered splice site)
11431149STRANDmight get lost (downstream of altered splice site)
11511158HELIXmight get lost (downstream of altered splice site)
11631173HELIXmight get lost (downstream of altered splice site)
11741176TURNmight get lost (downstream of altered splice site)
11771184STRANDmight get lost (downstream of altered splice site)
11871194STRANDmight get lost (downstream of altered splice site)
12671267METALMagnesium (By similarity).might get lost (downstream of altered splice site)
12711271METALMagnesium (By similarity).might get lost (downstream of altered splice site)
13231340TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
13411351TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
13521371TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
13721465TOPO_DOMCytoplasmic (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 13
strand -1
last intron/exon boundary 4004
theoretical NMD boundary in CDS 3879
length of CDS 4203
coding sequence (CDS) position 2495
cDNA position
(for ins/del: last normal base / first normal base)		 2569
gDNA position
(for ins/del: last normal base / first normal base)		 61143
chromosomal position
(for ins/del: last normal base / first normal base)		 52524488
original gDNA sequence snippet GCAGCGGGGCGATATCGTCAAGGTGGTCCCTGGGGGAAAGT
altered gDNA sequence snippet GCAGCGGGGCGATATCGTCAGGGTGGTCCCTGGGGGAAAGT
original cDNA sequence snippet GCAGCGGGGCGATATCGTCAAGGTGGTCCCTGGGGGAAAGT
altered cDNA sequence snippet GCAGCGGGGCGATATCGTCAGGGTGGTCCCTGGGGGAAAGT
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 VRVVPGGKFP
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 *
speed 0.96 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1.94900463110002e-05 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM116966)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52524488T>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.311A>G
cDNA.453A>G
g.61143A>G
AA changes K104R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 104
frameshift no
known variant Reference ID: rs1061472
databasehomozygous (C/C)heterozygousallele carriers
1000G63612441880
ExAC17668-256915099

known disease mutation at this position, please check HGMD for details (HGMD ID CM116966)
regulatory features H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.061
3.5271
(flanking)3.3511
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained611420.84mu: TCGTCAGGGTGGTCC GTCA|gggt
distance from splice site 48
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      104PMELVQRGDIVKVVPGGKFPVDGK
mutated  all conserved    104PMELVQRGDIVRVVPGGKFPVDG
Ptroglodytes  all identical  ENSPTRG00000005897  780PMELVQRGDIVKVVPGGKFPVDG
Mmulatta  all identical  ENSMMUG00000016520  815PMELVQRGDIVKVVPGGKFPVDG
Fcatus  all identical  ENSFCAG00000003710  820PMELVQRGDVIKVVPGGKFPVDG
Mmusculus  all identical  ENSMUSG00000006567  834PMELVQRGDVIKVVPGGKFPVDG
Ggallus  all identical  ENSGALG00000017021  809PVELVQRGDIVKVVPGGKFPVDG
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0030343  578HSSCDESLITGESMPVAKRKGSVVIGG
Celegans  all identical  Y76A2A.2  597NIELVQRNDLIKVVPGAKVPVDG
Xtropicalis  all identical  ENSXETG00000020713  787AVELVQRGDIVKVVPGGKFPVDG
protein features
start (aa)end (aa)featuredetails 
1653TOPO_DOMCytoplasmic (Potential).lost
59125DOMAINHMA 1.lost
144210DOMAINHMA 2.might get lost (downstream of altered splice site)
258265STRANDmight get lost (downstream of altered splice site)
258327DOMAINHMA 3.might get lost (downstream of altered splice site)
266268HELIXmight get lost (downstream of altered splice site)
271278HELIXmight get lost (downstream of altered splice site)
285291STRANDmight get lost (downstream of altered splice site)
292295TURNmight get lost (downstream of altered splice site)
296301STRANDmight get lost (downstream of altered splice site)
303305TURNmight get lost (downstream of altered splice site)
308315HELIXmight get lost (downstream of altered splice site)
318321STRANDmight get lost (downstream of altered splice site)
323326STRANDmight get lost (downstream of altered splice site)
340345COMPBIASPoly-Ser.might get lost (downstream of altered splice site)
359366STRANDmight get lost (downstream of altered splice site)
360426DOMAINHMA 4.might get lost (downstream of altered splice site)
372380HELIXmight get lost (downstream of altered splice site)
381383HELIXmight get lost (downstream of altered splice site)
384393STRANDmight get lost (downstream of altered splice site)
394397TURNmight get lost (downstream of altered splice site)
398403STRANDmight get lost (downstream of altered splice site)
405407TURNmight get lost (downstream of altered splice site)
410420HELIXmight get lost (downstream of altered splice site)
424426STRANDmight get lost (downstream of altered splice site)
488488CONFLICTQ -> G (in Ref. 8; AAA16173).might get lost (downstream of altered splice site)
488495STRANDmight get lost (downstream of altered splice site)
489555DOMAINHMA 5.might get lost (downstream of altered splice site)
499501STRANDmight get lost (downstream of altered splice site)
502511HELIXmight get lost (downstream of altered splice site)
519522STRANDmight get lost (downstream of altered splice site)
523526TURNmight get lost (downstream of altered splice site)
527532STRANDmight get lost (downstream of altered splice site)
534536TURNmight get lost (downstream of altered splice site)
539549HELIXmight get lost (downstream of altered splice site)
552555STRANDmight get lost (downstream of altered splice site)
562572STRANDmight get lost (downstream of altered splice site)
565631DOMAINHMA 6.might get lost (downstream of altered splice site)
576588HELIXmight get lost (downstream of altered splice site)
589591STRANDmight get lost (downstream of altered splice site)
594598STRANDmight get lost (downstream of altered splice site)
599602TURNmight get lost (downstream of altered splice site)
603607STRANDmight get lost (downstream of altered splice site)
610612TURNmight get lost (downstream of altered splice site)
615625HELIXmight get lost (downstream of altered splice site)
628630STRANDmight get lost (downstream of altered splice site)
635635CONFLICTN -> T (in Ref. 8; AAA16173).might get lost (downstream of altered splice site)
654675TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
676697TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
698717TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
718724TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
725745TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
746764TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
765785TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
767767CONFLICTP -> L (in Ref. 8; AAA16173).might get lost (downstream of altered splice site)
786919TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
837837CONFLICTG -> A (in Ref. 8; AAA16173).might get lost (downstream of altered splice site)
920942TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
943972TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
973994TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
9951322TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
10271027ACT_SITE4-aspartylphosphate intermediate (By similarity).might get lost (downstream of altered splice site)
10391044STRANDmight get lost (downstream of altered splice site)
10481050TURNmight get lost (downstream of altered splice site)
10531064HELIXmight get lost (downstream of altered splice site)
10721083HELIXmight get lost (downstream of altered splice site)
10911097STRANDmight get lost (downstream of altered splice site)
10981100TURNmight get lost (downstream of altered splice site)
11011107STRANDmight get lost (downstream of altered splice site)
11091113HELIXmight get lost (downstream of altered splice site)
11271130STRANDmight get lost (downstream of altered splice site)
11431149STRANDmight get lost (downstream of altered splice site)
11511158HELIXmight get lost (downstream of altered splice site)
11631173HELIXmight get lost (downstream of altered splice site)
11741176TURNmight get lost (downstream of altered splice site)
11771184STRANDmight get lost (downstream of altered splice site)
11871194STRANDmight get lost (downstream of altered splice site)
12671267METALMagnesium (By similarity).might get lost (downstream of altered splice site)
12711271METALMagnesium (By similarity).might get lost (downstream of altered splice site)
13231340TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
13411351TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
13521371TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
13721465TOPO_DOMCytoplasmic (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 13
strand -1
last intron/exon boundary 1900
theoretical NMD boundary in CDS 1707
length of CDS 2031
coding sequence (CDS) position 311
cDNA position
(for ins/del: last normal base / first normal base)		 453
gDNA position
(for ins/del: last normal base / first normal base)		 61143
chromosomal position
(for ins/del: last normal base / first normal base)		 52524488
original gDNA sequence snippet GCAGCGGGGCGATATCGTCAAGGTGGTCCCTGGGGGAAAGT
altered gDNA sequence snippet GCAGCGGGGCGATATCGTCAGGGTGGTCCCTGGGGGAAAGT
original cDNA sequence snippet GCAGCGGGGCGATATCGTCAAGGTGGTCCCTGGGGGAAAGT
altered cDNA sequence snippet GCAGCGGGGCGATATCGTCAGGGTGGTCCCTGGGGGAAAGT
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 DIVRVVPGGK 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*
speed 1.03 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 3.35011373051188e-06 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM116966)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52524488T>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.2495A>G
cDNA.2652A>G
g.61143A>G
AA changes K832R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 832
frameshift no
known variant Reference ID: rs1061472
databasehomozygous (C/C)heterozygousallele carriers
1000G63612441880
ExAC17668-256915099

known disease mutation at this position, please check HGMD for details (HGMD ID CM116966)
regulatory features H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.061
3.5271
(flanking)3.3511
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained611420.84mu: TCGTCAGGGTGGTCC GTCA|gggt
distance from splice site 48
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      832PMELVQRGDIVKVVPGGKFPVDGK
mutated  all conserved    832PMELVQRGDIVRVVPGGKFP
Ptroglodytes  all identical  ENSPTRG00000005897  780PMELVQRGDIVKVVPGGKFP
Mmulatta  all identical  ENSMMUG00000016520  815PMELVQRGDIVKVVPGGKFPVDG
Fcatus  all identical  ENSFCAG00000003710  820PMELVQRGDVIKVVPGGKFPVDG
Mmusculus  all identical  ENSMUSG00000006567  834PMELVQRGDVIKVVPGGKFP
Ggallus  all identical  ENSGALG00000017021  809PVELVQRGDIVKVVPGGKFPVDG
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0030343  552SVDYVQRGDILKVIPGAKVPVDG
Celegans  all identical  Y76A2A.2  597NIELVQRNDLIKVVPGAKVPVDG
Xtropicalis  all identical  ENSXETG00000020713  787AVELVQRGDIVKVVPGGKFPVDG
protein features
start (aa)end (aa)featuredetails 
786919TOPO_DOMCytoplasmic (Potential).lost
837837CONFLICTG -> A (in Ref. 8; AAA16173).might get lost (downstream of altered splice site)
920942TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
943972TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
973994TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
9951322TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
10271027ACT_SITE4-aspartylphosphate intermediate (By similarity).might get lost (downstream of altered splice site)
10391044STRANDmight get lost (downstream of altered splice site)
10481050TURNmight get lost (downstream of altered splice site)
10531064HELIXmight get lost (downstream of altered splice site)
10721083HELIXmight get lost (downstream of altered splice site)
10911097STRANDmight get lost (downstream of altered splice site)
10981100TURNmight get lost (downstream of altered splice site)
11011107STRANDmight get lost (downstream of altered splice site)
11091113HELIXmight get lost (downstream of altered splice site)
11271130STRANDmight get lost (downstream of altered splice site)
11431149STRANDmight get lost (downstream of altered splice site)
11511158HELIXmight get lost (downstream of altered splice site)
11631173HELIXmight get lost (downstream of altered splice site)
11741176TURNmight get lost (downstream of altered splice site)
11771184STRANDmight get lost (downstream of altered splice site)
11871194STRANDmight get lost (downstream of altered splice site)
12671267METALMagnesium (By similarity).might get lost (downstream of altered splice site)
12711271METALMagnesium (By similarity).might get lost (downstream of altered splice site)
13231340TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
13411351TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
13521371TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
13721465TOPO_DOMCytoplasmic (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 13
strand -1
last intron/exon boundary 4282
theoretical NMD boundary in CDS 4074
length of CDS 4398
coding sequence (CDS) position 2495
cDNA position
(for ins/del: last normal base / first normal base)		 2652
gDNA position
(for ins/del: last normal base / first normal base)		 61143
chromosomal position
(for ins/del: last normal base / first normal base)		 52524488
original gDNA sequence snippet GCAGCGGGGCGATATCGTCAAGGTGGTCCCTGGGGGAAAGT
altered gDNA sequence snippet GCAGCGGGGCGATATCGTCAGGGTGGTCCCTGGGGGAAAGT
original cDNA sequence snippet GCAGCGGGGCGATATCGTCAAGGTGGTCCCTGGGGGAAAGT
altered cDNA sequence snippet GCAGCGGGGCGATATCGTCAGGGTGGTCCCTGGGGGAAAGT
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 VRVVPGGKFP
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*
speed 0.70 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 3.35011373051188e-06 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM116966)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52524488T>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.2162A>G
cDNA.2319A>G
g.61143A>G
AA changes K721R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 721
frameshift no
known variant Reference ID: rs1061472
databasehomozygous (C/C)heterozygousallele carriers
1000G63612441880
ExAC17668-256915099

known disease mutation at this position, please check HGMD for details (HGMD ID CM116966)
regulatory features H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.061
3.5271
(flanking)3.3511
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained611420.84mu: TCGTCAGGGTGGTCC GTCA|gggt
distance from splice site 48
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      721PMELVQRGDIVKVVPGGKFPVDGK
mutated  all conserved    721RVVPGGKFPVDG
Ptroglodytes  all identical  ENSPTRG00000005897  780RGDIVKVVPGGKFPVDG
Mmulatta  all identical  ENSMMUG00000016520  815PMELVQRGDIVKVVPGGKFPVDG
Fcatus  all identical  ENSFCAG00000003710  820PMELVQRGDVIKVVPGGKFPVDG
Mmusculus  all identical  ENSMUSG00000006567  834PMELVQRGDVIKVVPGGKFPVDG
Ggallus  all identical  ENSGALG00000017021  809PVELVQRGDIVKVVPGG
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0030343  552SVDYVQRGDILKVIPGAKVPVDG
Celegans  all identical  Y76A2A.2  597NIELVQRNDLIKVVPGAKVPVDG
Xtropicalis  all identical  ENSXETG00000020713  787AVELVQRGDIVKVVPGGKFPVD
protein features
start (aa)end (aa)featuredetails 
718724TOPO_DOMCytoplasmic (Potential).lost
725745TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
746764TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
765785TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
767767CONFLICTP -> L (in Ref. 8; AAA16173).might get lost (downstream of altered splice site)
786919TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
837837CONFLICTG -> A (in Ref. 8; AAA16173).might get lost (downstream of altered splice site)
920942TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
943972TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
973994TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
9951322TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
10271027ACT_SITE4-aspartylphosphate intermediate (By similarity).might get lost (downstream of altered splice site)
10391044STRANDmight get lost (downstream of altered splice site)
10481050TURNmight get lost (downstream of altered splice site)
10531064HELIXmight get lost (downstream of altered splice site)
10721083HELIXmight get lost (downstream of altered splice site)
10911097STRANDmight get lost (downstream of altered splice site)
10981100TURNmight get lost (downstream of altered splice site)
11011107STRANDmight get lost (downstream of altered splice site)
11091113HELIXmight get lost (downstream of altered splice site)
11271130STRANDmight get lost (downstream of altered splice site)
11431149STRANDmight get lost (downstream of altered splice site)
11511158HELIXmight get lost (downstream of altered splice site)
11631173HELIXmight get lost (downstream of altered splice site)
11741176TURNmight get lost (downstream of altered splice site)
11771184STRANDmight get lost (downstream of altered splice site)
11871194STRANDmight get lost (downstream of altered splice site)
12671267METALMagnesium (By similarity).might get lost (downstream of altered splice site)
12711271METALMagnesium (By similarity).might get lost (downstream of altered splice site)
13231340TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
13411351TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
13521371TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
13721465TOPO_DOMCytoplasmic (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 13
strand -1
last intron/exon boundary 3949
theoretical NMD boundary in CDS 3741
length of CDS 4065
coding sequence (CDS) position 2162
cDNA position
(for ins/del: last normal base / first normal base)		 2319
gDNA position
(for ins/del: last normal base / first normal base)		 61143
chromosomal position
(for ins/del: last normal base / first normal base)		 52524488
original gDNA sequence snippet GCAGCGGGGCGATATCGTCAAGGTGGTCCCTGGGGGAAAGT
altered gDNA sequence snippet GCAGCGGGGCGATATCGTCAGGGTGGTCCCTGGGGGAAAGT
original cDNA sequence snippet GCAGCGGGGCGATATCGTCAAGGTGGTCCCTGGGGGAAAGT
altered cDNA sequence snippet GCAGCGGGGCGATATCGTCAGGGTGGTCCCTGGGGGAAAGT
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
RVVPGGKFPV 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*
speed 0.79 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 3.35011373051188e-06 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM116966)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52524488T>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.2261A>G
cDNA.2335A>G
g.61143A>G
AA changes K754R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 754
frameshift no
known variant Reference ID: rs1061472
databasehomozygous (C/C)heterozygousallele carriers
1000G63612441880
ExAC17668-256915099

known disease mutation at this position, please check HGMD for details (HGMD ID CM116966)
regulatory features H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.061
3.5271
(flanking)3.3511
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained611420.84mu: TCGTCAGGGTGGTCC GTCA|gggt
distance from splice site 48
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      754PMELVQRGDIVKVVPGGKFPVDGK
mutated  all conserved    754PMELVQRGDIVRVVPGGKFPVDG
Ptroglodytes  all identical  ENSPTRG00000005897  780PMELVQRGDIVKVVPGGKFPVDG
Mmulatta  all identical  ENSMMUG00000016520  815PMELVQRGDIVKVVPGGKF
Fcatus  all identical  ENSFCAG00000003710  820PMELVQRGDVIKVVPGGKFPVDG
Mmusculus  all identical  ENSMUSG00000006567  834PMELVQRGDVIKVVPGGKFPVDG
Ggallus  all identical  ENSGALG00000017021  809PVELVQRGDIVKVVPGGKFPVDG
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0030343  552SVDYVQRGDILKVIPGAKVPVDG
Celegans  all identical  Y76A2A.2  597NIELVQRNDLIKVVPGAKVPVDG
Xtropicalis  all identical  ENSXETG00000020713  787GDIVKVVPGGKFPVDG
protein features
start (aa)end (aa)featuredetails 
746764TOPO_DOMExtracellular (Potential).lost
765785TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
767767CONFLICTP -> L (in Ref. 8; AAA16173).might get lost (downstream of altered splice site)
786919TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
837837CONFLICTG -> A (in Ref. 8; AAA16173).might get lost (downstream of altered splice site)
920942TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
943972TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
973994TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
9951322TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
10271027ACT_SITE4-aspartylphosphate intermediate (By similarity).might get lost (downstream of altered splice site)
10391044STRANDmight get lost (downstream of altered splice site)
10481050TURNmight get lost (downstream of altered splice site)
10531064HELIXmight get lost (downstream of altered splice site)
10721083HELIXmight get lost (downstream of altered splice site)
10911097STRANDmight get lost (downstream of altered splice site)
10981100TURNmight get lost (downstream of altered splice site)
11011107STRANDmight get lost (downstream of altered splice site)
11091113HELIXmight get lost (downstream of altered splice site)
11271130STRANDmight get lost (downstream of altered splice site)
11431149STRANDmight get lost (downstream of altered splice site)
11511158HELIXmight get lost (downstream of altered splice site)
11631173HELIXmight get lost (downstream of altered splice site)
11741176TURNmight get lost (downstream of altered splice site)
11771184STRANDmight get lost (downstream of altered splice site)
11871194STRANDmight get lost (downstream of altered splice site)
12671267METALMagnesium (By similarity).might get lost (downstream of altered splice site)
12711271METALMagnesium (By similarity).might get lost (downstream of altered splice site)
13231340TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
13411351TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
13521371TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
13721465TOPO_DOMCytoplasmic (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 13
strand -1
last intron/exon boundary 3965
theoretical NMD boundary in CDS 3840
length of CDS 4164
coding sequence (CDS) position 2261
cDNA position
(for ins/del: last normal base / first normal base)		 2335
gDNA position
(for ins/del: last normal base / first normal base)		 61143
chromosomal position
(for ins/del: last normal base / first normal base)		 52524488
original gDNA sequence snippet GCAGCGGGGCGATATCGTCAAGGTGGTCCCTGGGGGAAAGT
altered gDNA sequence snippet GCAGCGGGGCGATATCGTCAGGGTGGTCCCTGGGGGAAAGT
original cDNA sequence snippet GCAGCGGGGCGATATCGTCAAGGTGGTCCCTGGGGGAAAGT
altered cDNA sequence snippet GCAGCGGGGCGATATCGTCAGGGTGGTCCCTGGGGGAAAGT
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 DIVRVVPGGK 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*
speed 0.97 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1.90270802945555e-06 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM116966)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52524488T>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.2009A>G
cDNA.2166A>G
g.61143A>G
AA changes K670R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 670
frameshift no
known variant Reference ID: rs1061472
databasehomozygous (C/C)heterozygousallele carriers
1000G63612441880
ExAC17668-256915099

known disease mutation at this position, please check HGMD for details (HGMD ID CM116966)
regulatory features H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.061
3.5271
(flanking)3.3511
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained611420.84mu: TCGTCAGGGTGGTCC GTCA|gggt
distance from splice site 48
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      670PMELVQRGDIVKVVPGGKFPVDGK
mutated  all conserved    670ELVQRGDIVRVVPGGKFPVDG
Ptroglodytes  all identical  ENSPTRG00000005897  780PMELVQRGDIVKVVPGGKFPVDG
Mmulatta  all identical  ENSMMUG00000016520  815GDIVKVVPGGKFPVDG
Fcatus  all identical  ENSFCAG00000003710  820PMELVQRGDVIKVVPGGKFPVD
Mmusculus  all identical  ENSMUSG00000006567  834VQRGDVIKVVPGGKFPVDG
Ggallus  all identical  ENSGALG00000017021  809PVELVQRGDIVKVVPGGKFPVD
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0030343  552SVDYVQRGDILKVIPGAKV
Celegans  all identical  Y76A2A.2  597NIELVQRNDLIKVVPGAKVPVDG
Xtropicalis  all identical  ENSXETG00000020713  787QRGDIVKVVPGGKFPVDG
protein features
start (aa)end (aa)featuredetails 
654675TRANSMEMHelical; (Potential).lost
676697TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
698717TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
718724TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
725745TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
746764TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
765785TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
767767CONFLICTP -> L (in Ref. 8; AAA16173).might get lost (downstream of altered splice site)
786919TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
837837CONFLICTG -> A (in Ref. 8; AAA16173).might get lost (downstream of altered splice site)
920942TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
943972TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
973994TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
9951322TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
10271027ACT_SITE4-aspartylphosphate intermediate (By similarity).might get lost (downstream of altered splice site)
10391044STRANDmight get lost (downstream of altered splice site)
10481050TURNmight get lost (downstream of altered splice site)
10531064HELIXmight get lost (downstream of altered splice site)
10721083HELIXmight get lost (downstream of altered splice site)
10911097STRANDmight get lost (downstream of altered splice site)
10981100TURNmight get lost (downstream of altered splice site)
11011107STRANDmight get lost (downstream of altered splice site)
11091113HELIXmight get lost (downstream of altered splice site)
11271130STRANDmight get lost (downstream of altered splice site)
11431149STRANDmight get lost (downstream of altered splice site)
11511158HELIXmight get lost (downstream of altered splice site)
11631173HELIXmight get lost (downstream of altered splice site)
11741176TURNmight get lost (downstream of altered splice site)
11771184STRANDmight get lost (downstream of altered splice site)
11871194STRANDmight get lost (downstream of altered splice site)
12671267METALMagnesium (By similarity).might get lost (downstream of altered splice site)
12711271METALMagnesium (By similarity).might get lost (downstream of altered splice site)
13231340TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
13411351TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
13521371TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
13721465TOPO_DOMCytoplasmic (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 13
strand -1
last intron/exon boundary 3661
theoretical NMD boundary in CDS 3453
length of CDS 3777
coding sequence (CDS) position 2009
cDNA position
(for ins/del: last normal base / first normal base)		 2166
gDNA position
(for ins/del: last normal base / first normal base)		 61143
chromosomal position
(for ins/del: last normal base / first normal base)		 52524488
original gDNA sequence snippet GCAGCGGGGCGATATCGTCAAGGTGGTCCCTGGGGGAAAGT
altered gDNA sequence snippet GCAGCGGGGCGATATCGTCAGGGTGGTCCCTGGGGGAAAGT
original cDNA sequence snippet GCAGCGGGGCGATATCGTCAAGGTGGTCCCTGGGGGAAAGT
altered cDNA sequence snippet GCAGCGGGGCGATATCGTCAGGGTGGTCCCTGGGGGAAAGT
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
ELVQRGDIVR 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*
speed 0.74 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 8.29391180433929e-31 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM116966)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52524488T>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 intron
DNA changes g.61143A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs1061472
databasehomozygous (C/C)heterozygousallele carriers
1000G63612441880
ExAC17668-256915099

known disease mutation at this position, please check HGMD for details (HGMD ID CM116966)
regulatory features H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.061
3.5271
(flanking)3.3511
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained611420.84mu: TCGTCAGGGTGGTCC GTCA|gggt
distance from splice site 191
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
1653TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
488488CONFLICTQ -> G (in Ref. 8; AAA16173).might get lost (downstream of altered splice site)
488495STRANDmight get lost (downstream of altered splice site)
489555DOMAINHMA 5.might get lost (downstream of altered splice site)
499501STRANDmight get lost (downstream of altered splice site)
502511HELIXmight get lost (downstream of altered splice site)
519522STRANDmight get lost (downstream of altered splice site)
523526TURNmight get lost (downstream of altered splice site)
527532STRANDmight get lost (downstream of altered splice site)
534536TURNmight get lost (downstream of altered splice site)
539549HELIXmight get lost (downstream of altered splice site)
552555STRANDmight get lost (downstream of altered splice site)
562572STRANDmight get lost (downstream of altered splice site)
565631DOMAINHMA 6.might get lost (downstream of altered splice site)
576588HELIXmight get lost (downstream of altered splice site)
589591STRANDmight get lost (downstream of altered splice site)
594598STRANDmight get lost (downstream of altered splice site)
599602TURNmight get lost (downstream of altered splice site)
603607STRANDmight get lost (downstream of altered splice site)
610612TURNmight get lost (downstream of altered splice site)
615625HELIXmight get lost (downstream of altered splice site)
628630STRANDmight get lost (downstream of altered splice site)
635635CONFLICTN -> T (in Ref. 8; AAA16173).might get lost (downstream of altered splice site)
654675TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
676697TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
698717TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
718724TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
725745TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
746764TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
765785TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
767767CONFLICTP -> L (in Ref. 8; AAA16173).might get lost (downstream of altered splice site)
786919TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
837837CONFLICTG -> A (in Ref. 8; AAA16173).might get lost (downstream of altered splice site)
920942TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
943972TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
973994TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
9951322TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
10271027ACT_SITE4-aspartylphosphate intermediate (By similarity).might get lost (downstream of altered splice site)
10391044STRANDmight get lost (downstream of altered splice site)
10481050TURNmight get lost (downstream of altered splice site)
10531064HELIXmight get lost (downstream of altered splice site)
10721083HELIXmight get lost (downstream of altered splice site)
10911097STRANDmight get lost (downstream of altered splice site)
10981100TURNmight get lost (downstream of altered splice site)
11011107STRANDmight get lost (downstream of altered splice site)
11091113HELIXmight get lost (downstream of altered splice site)
11271130STRANDmight get lost (downstream of altered splice site)
11431149STRANDmight get lost (downstream of altered splice site)
11511158HELIXmight get lost (downstream of altered splice site)
11631173HELIXmight get lost (downstream of altered splice site)
11741176TURNmight get lost (downstream of altered splice site)
11771184STRANDmight get lost (downstream of altered splice site)
11871194STRANDmight get lost (downstream of altered splice site)
12671267METALMagnesium (By similarity).might get lost (downstream of altered splice site)
12711271METALMagnesium (By similarity).might get lost (downstream of altered splice site)
13231340TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
13411351TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
13521371TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
13721465TOPO_DOMCytoplasmic (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 75 / 75
chromosome 13
strand -1
last intron/exon boundary 2909
theoretical NMD boundary in CDS 2784
length of CDS 3108
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)		 61143
chromosomal position
(for ins/del: last normal base / first normal base)		 52524488
original gDNA sequence snippet GCAGCGGGGCGATATCGTCAAGGTGGTCCCTGGGGGAAAGT
altered gDNA sequence snippet GCAGCGGGGCGATATCGTCAGGGTGGTCCCTGGGGGAAAGT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
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 N/A
speed 0.56 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
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Problems