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 8 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
Querying Taster for transcript #8: ENST00000542656
MT speed 0 s - this script 8.259533 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ATP7Bdisease_causing_automatic0.0176470848157959simple_aaeaffected0M645Rsingle base exchangers121907998show file
ATP7Bdisease_causing_automatic0.0176470848157959simple_aaeaffected0M645Rsingle base exchangers121907998show file
ATP7Bdisease_causing_automatic0.131028066819702simple_aaeaffected0M534Rsingle base exchangers121907998show file
ATP7Bdisease_causing_automatic0.994713754639221simple_aaeaffected0M645Rsingle base exchangers121907998show file
ATP7Bdisease_causing_automatic0.999999999999848without_aaeaffected0single base exchangers121907998show file
ATP7Bdisease_causing_automatic0.999999999999848without_aaeaffected0single base exchangers121907998show file
ATP7Bdisease_causing_automatic0.999999999999848without_aaeaffected0single base exchangers121907998show file
ATP7Bdisease_causing_automatic0.999999999999991without_aaeaffected0single base exchangers121907998show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.0176470848157959 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • heterozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM970138)
  • known disease mutation: rs3862 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52535985A>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.1934T>G
cDNA.2091T>G
g.49646T>G
AA changes M645R Score: 91 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 645
frameshift no
known variant Reference ID: rs121907998
databasehomozygous (C/C)heterozygousallele carriers
1000G011
ExAC06161

known disease mutation: rs3862 (pathogenic for Wilson disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM970138)

known disease mutation at this position, please check HGMD for details (HGMD ID CM970138)
known disease mutation at this position, please check HGMD for details (HGMD ID CM970138)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5421
0.7640.993
(flanking)0.0070.983
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased49646wt: 0.7999 / mu: 0.8417 (marginal change - not scored)wt: CAAGATGGAAATAAA
mu: CAAGAGGGAAATAAA		 AGAT|ggaa
Donor marginally increased49638wt: 0.8952 / mu: 0.9325 (marginal change - not scored)wt: TTGGACCACAAGATG
mu: TTGGACCACAAGAGG		 GGAC|caca
Donor marginally increased49650wt: 0.9853 / mu: 0.9938 (marginal change - not scored)wt: ATGGAAATAAAGCAG
mu: AGGGAAATAAAGCAG		 GGAA|ataa
Donor marginally increased49645wt: 0.9283 / mu: 0.9986 (marginal change - not scored)wt: ACAAGATGGAAATAA
mu: ACAAGAGGGAAATAA		 AAGA|tgga
Donor marginally increased49643wt: 0.3505 / mu: 0.4291 (marginal change - not scored)wt: CCACAAGATGGAAAT
mu: CCACAAGAGGGAAAT		 ACAA|gatg
Donor gained496400.97mu: GGACCACAAGAGGGA ACCA|caag
distance from splice site 13
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      645RNPNAHHLDHKMEIKQWKKSFLCS
mutated  not conserved    645RNPNAHHLDHKREIKQWKKSFLC
Ptroglodytes  all identical  ENSPTRG00000005897  593RNPNARHLDHKMEIKQWKKSFLC
Mmulatta  all identical  ENSMMUG00000016520  628RIPNAHHLDHKMEIKQWKKSFLC
Fcatus  all conserved  ENSFCAG00000003710  633PNVHHLDHKVEIKQWKKSFLC
Mmusculus  not conserved  ENSMUSG00000006567  647RNPNAHHLDHKTEIKQWKKSFLC
Ggallus  not conserved  ENSGALG00000017021  620RVPNTHNLDHKKEIQQWRKSFLC
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0030343  365RDKMAHNYLEHKEEIRKWRNAFLV
Celegans  not conserved  Y76A2A.2  410RDDQMKRLDHSDDVKKWRNTFFI
Xtropicalis  not conserved  ENSXETG00000020713  600RDPTAHKLDHKEEIKQWRNSFLF
protein features
start (aa)end (aa)featuredetails 
1653TOPO_DOMCytoplasmic (Potential).lost
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 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 1934
cDNA position
(for ins/del: last normal base / first normal base)		 2091
gDNA position
(for ins/del: last normal base / first normal base)		 49646
chromosomal position
(for ins/del: last normal base / first normal base)		 52535985
original gDNA sequence snippet TCATCACTTGGACCACAAGATGGAAATAAAGCAGTAGGTAG
altered gDNA sequence snippet TCATCACTTGGACCACAAGAGGGAAATAAAGCAGTAGGTAG
original cDNA sequence snippet TCATCACTTGGACCACAAGATGGAAATAAAGCAGTGGAAGA
altered cDNA sequence snippet TCATCACTTGGACCACAAGAGGGAAATAAAGCAGTGGAAGA
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 LDHKREIKQW 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*
speed 1.16 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

disease causing

 Model: simple_aae, prob: 0.0176470848157959 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • heterozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM970138)
  • known disease mutation: rs3862 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52535985A>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.1934T>G
cDNA.2008T>G
g.49646T>G
AA changes M645R Score: 91 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 645
frameshift no
known variant Reference ID: rs121907998
databasehomozygous (C/C)heterozygousallele carriers
1000G011
ExAC06161

known disease mutation: rs3862 (pathogenic for Wilson disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM970138)

known disease mutation at this position, please check HGMD for details (HGMD ID CM970138)
known disease mutation at this position, please check HGMD for details (HGMD ID CM970138)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5421
0.7640.993
(flanking)0.0070.983
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased49646wt: 0.7999 / mu: 0.8417 (marginal change - not scored)wt: CAAGATGGAAATAAA
mu: CAAGAGGGAAATAAA		 AGAT|ggaa
Donor marginally increased49638wt: 0.8952 / mu: 0.9325 (marginal change - not scored)wt: TTGGACCACAAGATG
mu: TTGGACCACAAGAGG		 GGAC|caca
Donor marginally increased49650wt: 0.9853 / mu: 0.9938 (marginal change - not scored)wt: ATGGAAATAAAGCAG
mu: AGGGAAATAAAGCAG		 GGAA|ataa
Donor marginally increased49645wt: 0.9283 / mu: 0.9986 (marginal change - not scored)wt: ACAAGATGGAAATAA
mu: ACAAGAGGGAAATAA		 AAGA|tgga
Donor marginally increased49643wt: 0.3505 / mu: 0.4291 (marginal change - not scored)wt: CCACAAGATGGAAAT
mu: CCACAAGAGGGAAAT		 ACAA|gatg
Donor gained496400.97mu: GGACCACAAGAGGGA ACCA|caag
distance from splice site 13
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      645RNPNAHHLDHKMEIKQWKKSFLCS
mutated  not conserved    645RNPNAHHLDHKREIKQWKKSFLC
Ptroglodytes  all identical  ENSPTRG00000005897  593RNPNARHLDHKMEIKQWKKSFLC
Mmulatta  all identical  ENSMMUG00000016520  628RIPNAHHLDHKMEIKQWKKSFLC
Fcatus  all conserved  ENSFCAG00000003710  633PNVHHLDHKVEIKQWKKSFLC
Mmusculus  not conserved  ENSMUSG00000006567  647RNPNAHHLDHKTEIKQWKKSFLC
Ggallus  not conserved  ENSGALG00000017021  620RVPNTHNLDHKKEIQQWRKSFLC
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0030343  365RDKMAHNYLEHKEEIRKWRNAFLV
Celegans  not conserved  Y76A2A.2  410RDDQMKRLDHSDDVKKWRNTFFI
Xtropicalis  not conserved  ENSXETG00000020713  600RDPTAHKLDHKEEIKQWRNSFLF
protein features
start (aa)end (aa)featuredetails 
1653TOPO_DOMCytoplasmic (Potential).lost
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 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 1934
cDNA position
(for ins/del: last normal base / first normal base)		 2008
gDNA position
(for ins/del: last normal base / first normal base)		 49646
chromosomal position
(for ins/del: last normal base / first normal base)		 52535985
original gDNA sequence snippet TCATCACTTGGACCACAAGATGGAAATAAAGCAGTAGGTAG
altered gDNA sequence snippet TCATCACTTGGACCACAAGAGGGAAATAAAGCAGTAGGTAG
original cDNA sequence snippet TCATCACTTGGACCACAAGATGGAAATAAAGCAGTGGAAGA
altered cDNA sequence snippet TCATCACTTGGACCACAAGAGGGAAATAAAGCAGTGGAAGA
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 LDHKREIKQW 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 *
speed 1.05 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

disease causing

 Model: simple_aae, prob: 0.131028066819702 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • heterozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM970138)
  • known disease mutation: rs3862 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52535985A>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.1601T>G
cDNA.1758T>G
g.49646T>G
AA changes M534R Score: 91 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 534
frameshift no
known variant Reference ID: rs121907998
databasehomozygous (C/C)heterozygousallele carriers
1000G011
ExAC06161

known disease mutation: rs3862 (pathogenic for Wilson disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM970138)

known disease mutation at this position, please check HGMD for details (HGMD ID CM970138)
known disease mutation at this position, please check HGMD for details (HGMD ID CM970138)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5421
0.7640.993
(flanking)0.0070.983
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased49646wt: 0.7999 / mu: 0.8417 (marginal change - not scored)wt: CAAGATGGAAATAAA
mu: CAAGAGGGAAATAAA		 AGAT|ggaa
Donor marginally increased49638wt: 0.8952 / mu: 0.9325 (marginal change - not scored)wt: TTGGACCACAAGATG
mu: TTGGACCACAAGAGG		 GGAC|caca
Donor marginally increased49650wt: 0.9853 / mu: 0.9938 (marginal change - not scored)wt: ATGGAAATAAAGCAG
mu: AGGGAAATAAAGCAG		 GGAA|ataa
Donor marginally increased49645wt: 0.9283 / mu: 0.9986 (marginal change - not scored)wt: ACAAGATGGAAATAA
mu: ACAAGAGGGAAATAA		 AAGA|tgga
Donor marginally increased49643wt: 0.3505 / mu: 0.4291 (marginal change - not scored)wt: CCACAAGATGGAAAT
mu: CCACAAGAGGGAAAT		 ACAA|gatg
Donor gained496400.97mu: GGACCACAAGAGGGA ACCA|caag
distance from splice site 13
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      534RNPNAHHLDHKMEIKQWKKSFLCS
mutated  not conserved    534RNPNAHHLDHKREIKQWK
Ptroglodytes  all identical  ENSPTRG00000005897  593RNPNARHLDHKMEIKQWKKSFLC
Mmulatta  all identical  ENSMMUG00000016520  628RIPNAHHLDHKMEIKQWKKSFLC
Fcatus  all conserved  ENSFCAG00000003710  633PNVHHLDHKVEIKQWKKSFLC
Mmusculus  not conserved  ENSMUSG00000006567  647RNPNAHHLDHKTEIKQWKKSFLC
Ggallus  not conserved  ENSGALG00000017021  620RVPNTHNLDHKKEIQQWRKSFLC
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0030343  365RDKMAHNYLEHKEEIRKWRNAFLV
Celegans  not conserved  Y76A2A.2  410RDDQMKRLDHSDDVKKWRNTFFI
Xtropicalis  not conserved  ENSXETG00000020713  600RDPTAHKLDHKEEIKQWRNSFLF
protein features
start (aa)end (aa)featuredetails 
1653TOPO_DOMCytoplasmic (Potential).lost
489555DOMAINHMA 5.lost
527532STRANDmight get lost (downstream of altered splice site)
534536TURNlost
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 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 1601
cDNA position
(for ins/del: last normal base / first normal base)		 1758
gDNA position
(for ins/del: last normal base / first normal base)		 49646
chromosomal position
(for ins/del: last normal base / first normal base)		 52535985
original gDNA sequence snippet TCATCACTTGGACCACAAGATGGAAATAAAGCAGTAGGTAG
altered gDNA sequence snippet TCATCACTTGGACCACAAGAGGGAAATAAAGCAGTAGGTAG
original cDNA sequence snippet TCATCACTTGGACCACAAGATGGAAATAAAGCAGTGGAAGA
altered cDNA sequence snippet TCATCACTTGGACCACAAGAGGGAAATAAAGCAGTGGAAGA
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 DHKREIKQWK
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*
speed 1.18 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

disease causing

 Model: simple_aae, prob: 0.994713754639221 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • heterozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM970138)
  • known disease mutation: rs3862 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52535985A>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.1934T>G
cDNA.2008T>G
g.49646T>G
AA changes M645R Score: 91 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 645
frameshift no
known variant Reference ID: rs121907998
databasehomozygous (C/C)heterozygousallele carriers
1000G011
ExAC06161

known disease mutation: rs3862 (pathogenic for Wilson disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM970138)

known disease mutation at this position, please check HGMD for details (HGMD ID CM970138)
known disease mutation at this position, please check HGMD for details (HGMD ID CM970138)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5421
0.7640.993
(flanking)0.0070.983
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased49646wt: 0.7999 / mu: 0.8417 (marginal change - not scored)wt: CAAGATGGAAATAAA
mu: CAAGAGGGAAATAAA		 AGAT|ggaa
Donor marginally increased49638wt: 0.8952 / mu: 0.9325 (marginal change - not scored)wt: TTGGACCACAAGATG
mu: TTGGACCACAAGAGG		 GGAC|caca
Donor marginally increased49650wt: 0.9853 / mu: 0.9938 (marginal change - not scored)wt: ATGGAAATAAAGCAG
mu: AGGGAAATAAAGCAG		 GGAA|ataa
Donor marginally increased49645wt: 0.9283 / mu: 0.9986 (marginal change - not scored)wt: ACAAGATGGAAATAA
mu: ACAAGAGGGAAATAA		 AAGA|tgga
Donor marginally increased49643wt: 0.3505 / mu: 0.4291 (marginal change - not scored)wt: CCACAAGATGGAAAT
mu: CCACAAGAGGGAAAT		 ACAA|gatg
Donor gained496400.97mu: GGACCACAAGAGGGA ACCA|caag
distance from splice site 13
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      645RNPNAHHLDHKMEIKQWKKSFLCS
mutated  not conserved    645RNPNAHHLDHKREIKQWKKSFLC
Ptroglodytes  all identical  ENSPTRG00000005897  669AYKSLRHRSANMDV-------LI
Mmulatta  all identical  ENSMMUG00000016520  712ANMDV-------LI
Fcatus  all identical  ENSFCAG00000003710  710AYRSLRHGAANMDV-------LI
Mmusculus  all identical  ENSMUSG00000006567  723AYKSLRHRSANMDV---
Ggallus  not conserved  ENSGALG00000017021  620RVPNTHNLDHKKEIQQWRKSFLC
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0030343  365RDKMAHNYLEHKEEIRKWRNAFLV
Celegans  not conserved  Y76A2A.2  410RDDQMKRLDHSDDVKKWRNTFFI
Xtropicalis  all identical  ENSXETG00000020713  684AYKSLKHKATNMDVLI---VLAT
protein features
start (aa)end (aa)featuredetails 
1653TOPO_DOMCytoplasmic (Potential).lost
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 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 1934
cDNA position
(for ins/del: last normal base / first normal base)		 2008
gDNA position
(for ins/del: last normal base / first normal base)		 49646
chromosomal position
(for ins/del: last normal base / first normal base)		 52535985
original gDNA sequence snippet TCATCACTTGGACCACAAGATGGAAATAAAGCAGTAGGTAG
altered gDNA sequence snippet TCATCACTTGGACCACAAGAGGGAAATAAAGCAGTAGGTAG
original cDNA sequence snippet TCATCACTTGGACCACAAGATGGAAATAAAGCAGTGGAAGA
altered cDNA sequence snippet TCATCACTTGGACCACAAGAGGGAAATAAAGCAGTGGAAGA
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 LDHKREIKQW 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*
speed 1.00 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

disease causing

 Model: without_aae, prob: 0.999999999999848 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • heterozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM970138)
  • known disease mutation: rs3862 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52535985A>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 intron
DNA changes g.49646T>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121907998
databasehomozygous (C/C)heterozygousallele carriers
1000G011
ExAC06161

known disease mutation: rs3862 (pathogenic for Wilson disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM970138)

known disease mutation at this position, please check HGMD for details (HGMD ID CM970138)
known disease mutation at this position, please check HGMD for details (HGMD ID CM970138)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5421
0.7640.993
(flanking)0.0070.983
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased49646wt: 0.7999 / mu: 0.8417 (marginal change - not scored)wt: CAAGATGGAAATAAA
mu: CAAGAGGGAAATAAA		 AGAT|ggaa
Donor marginally increased49638wt: 0.8952 / mu: 0.9325 (marginal change - not scored)wt: TTGGACCACAAGATG
mu: TTGGACCACAAGAGG		 GGAC|caca
Donor marginally increased49650wt: 0.9853 / mu: 0.9938 (marginal change - not scored)wt: ATGGAAATAAAGCAG
mu: AGGGAAATAAAGCAG		 GGAA|ataa
Donor marginally increased49645wt: 0.9283 / mu: 0.9986 (marginal change - not scored)wt: ACAAGATGGAAATAA
mu: ACAAGAGGGAAATAA		 AAGA|tgga
Donor marginally increased49643wt: 0.3505 / mu: 0.4291 (marginal change - not scored)wt: CCACAAGATGGAAAT
mu: CCACAAGAGGGAAAT		 ACAA|gatg
Donor gained496400.97mu: GGACCACAAGAGGGA ACCA|caag
distance from splice site 3023
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)
565631DOMAINHMA 6.might 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 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 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)		 49646
chromosomal position
(for ins/del: last normal base / first normal base)		 52535985
original gDNA sequence snippet TCATCACTTGGACCACAAGATGGAAATAAAGCAGTAGGTAG
altered gDNA sequence snippet TCATCACTTGGACCACAAGAGGGAAATAAAGCAGTAGGTAG
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
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 N/A
speed 0.99 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

disease causing

 Model: without_aae, prob: 0.999999999999848 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • heterozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM970138)
  • known disease mutation: rs3862 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52535985A>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.49646T>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121907998
databasehomozygous (C/C)heterozygousallele carriers
1000G011
ExAC06161

known disease mutation: rs3862 (pathogenic for Wilson disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM970138)

known disease mutation at this position, please check HGMD for details (HGMD ID CM970138)
known disease mutation at this position, please check HGMD for details (HGMD ID CM970138)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5421
0.7640.993
(flanking)0.0070.983
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased49646wt: 0.7999 / mu: 0.8417 (marginal change - not scored)wt: CAAGATGGAAATAAA
mu: CAAGAGGGAAATAAA		 AGAT|ggaa
Donor marginally increased49638wt: 0.8952 / mu: 0.9325 (marginal change - not scored)wt: TTGGACCACAAGATG
mu: TTGGACCACAAGAGG		 GGAC|caca
Donor marginally increased49650wt: 0.9853 / mu: 0.9938 (marginal change - not scored)wt: ATGGAAATAAAGCAG
mu: AGGGAAATAAAGCAG		 GGAA|ataa
Donor marginally increased49645wt: 0.9283 / mu: 0.9986 (marginal change - not scored)wt: ACAAGATGGAAATAA
mu: ACAAGAGGGAAATAA		 AAGA|tgga
Donor marginally increased49643wt: 0.3505 / mu: 0.4291 (marginal change - not scored)wt: CCACAAGATGGAAAT
mu: CCACAAGAGGGAAAT		 ACAA|gatg
Donor gained496400.97mu: GGACCACAAGAGGGA ACCA|caag
distance from splice site 11688
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)		 49646
chromosomal position
(for ins/del: last normal base / first normal base)		 52535985
original gDNA sequence snippet TCATCACTTGGACCACAAGATGGAAATAAAGCAGTAGGTAG
altered gDNA sequence snippet TCATCACTTGGACCACAAGAGGGAAATAAAGCAGTAGGTAG
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 0.83 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

disease causing

 Model: without_aae, prob: 0.999999999999848 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • heterozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM970138)
  • known disease mutation: rs3862 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52535985A>CN/A show variant in all transcripts   IGV
HGNC symbol ATP7B
Ensembl transcript ID ENST00000542656
Genbank transcript ID N/A
UniProt peptide P35670
alteration type single base exchange
alteration region intron
DNA changes g.49646T>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121907998
databasehomozygous (C/C)heterozygousallele carriers
1000G011
ExAC06161

known disease mutation: rs3862 (pathogenic for Wilson disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM970138)

known disease mutation at this position, please check HGMD for details (HGMD ID CM970138)
known disease mutation at this position, please check HGMD for details (HGMD ID CM970138)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5421
0.7640.993
(flanking)0.0070.983
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased49646wt: 0.7999 / mu: 0.8417 (marginal change - not scored)wt: CAAGATGGAAATAAA
mu: CAAGAGGGAAATAAA		 AGAT|ggaa
Donor marginally increased49638wt: 0.8952 / mu: 0.9325 (marginal change - not scored)wt: TTGGACCACAAGATG
mu: TTGGACCACAAGAGG		 GGAC|caca
Donor marginally increased49650wt: 0.9853 / mu: 0.9938 (marginal change - not scored)wt: ATGGAAATAAAGCAG
mu: AGGGAAATAAAGCAG		 GGAA|ataa
Donor marginally increased49645wt: 0.9283 / mu: 0.9986 (marginal change - not scored)wt: ACAAGATGGAAATAA
mu: ACAAGAGGGAAATAA		 AAGA|tgga
Donor marginally increased49643wt: 0.3505 / mu: 0.4291 (marginal change - not scored)wt: CCACAAGATGGAAAT
mu: CCACAAGAGGGAAAT		 ACAA|gatg
Donor gained496400.97mu: GGACCACAAGAGGGA ACCA|caag
distance from splice site 3305
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 46 / 46
chromosome 13
strand -1
last intron/exon boundary 1493
theoretical NMD boundary in CDS 1397
length of CDS 1587
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)		 49646
chromosomal position
(for ins/del: last normal base / first normal base)		 52535985
original gDNA sequence snippet TCATCACTTGGACCACAAGATGGAAATAAAGCAGTAGGTAG
altered gDNA sequence snippet TCATCACTTGGACCACAAGAGGGAAATAAAGCAGTAGGTAG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MKKSFAFDNV GYEGGLDGLG PSSQVATSTV RILGMTCQSC VKSIEDRISN LKGIISMKVS
LEQGSATVKY VPSVVCLQQV CHQIGDMGFE ASIAEGKAAS WPSRSLPAQE AVVKLRVEGM
TCQSCVSSIE GKVRKLQGVV RVKVSLSNQE AVITYQPYLI QPEDLRDHVN DMGFEAAIKS
KVAPLSLGPI DIERLQSTNP KRPLSSANQN FNNSETLGHQ GSHVVTLQLR IDGMHCKSCV
LNIEENIGQL LGVQSIQVSL ENKTAQVKYD PSCTSPVALQ RAIEALPPGN FKVSLPDGAE
GSGTDHRSSS SHSPGSPPRN QVQGTCSTTL IAIAGMTCAS CVHSIEGMIS QLEGVQQISV
SLAEGTATVL YNPSVISPEE LRAAIEDMGF EASVVSESCS TNPLGNHSAG NSMVQTTDGT
PTSVQEVAPH TGRLPANHAP DILAKSPQST RAVAPQKCFL QIKGMTCASC VSNIERNLQK
EAAPRWVVLL RSGLQISETQ VSQHGRAHRP GHKHCLCLFS GHPGGCCG*
mutated AA sequence N/A
speed 0.98 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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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 0.999999999999991 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • heterozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM970138)
  • known disease mutation: rs3862 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52535985A>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 5'UTR
DNA changes cDNA.67T>G
g.49646T>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121907998
databasehomozygous (C/C)heterozygousallele carriers
1000G011
ExAC06161

known disease mutation: rs3862 (pathogenic for Wilson disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM970138)

known disease mutation at this position, please check HGMD for details (HGMD ID CM970138)
known disease mutation at this position, please check HGMD for details (HGMD ID CM970138)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5421
0.7640.993
(flanking)0.0070.983
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -26) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor marginally increased49646wt: 0.7999 / mu: 0.8417 (marginal change - not scored)wt: CAAGATGGAAATAAA
mu: CAAGAGGGAAATAAA		 AGAT|ggaa
Donor marginally increased49638wt: 0.8952 / mu: 0.9325 (marginal change - not scored)wt: TTGGACCACAAGATG
mu: TTGGACCACAAGAGG		 GGAC|caca
Donor marginally increased49650wt: 0.9853 / mu: 0.9938 (marginal change - not scored)wt: ATGGAAATAAAGCAG
mu: AGGGAAATAAAGCAG		 GGAA|ataa
Donor marginally increased49645wt: 0.9283 / mu: 0.9986 (marginal change - not scored)wt: ACAAGATGGAAATAA
mu: ACAAGAGGGAAATAA		 AAGA|tgga
Donor marginally increased49643wt: 0.3505 / mu: 0.4291 (marginal change - not scored)wt: CCACAAGATGGAAAT
mu: CCACAAGAGGGAAAT		 ACAA|gatg
Donor gained496400.97mu: GGACCACAAGAGGGA ACCA|caag
distance from splice site 13
Kozak consensus sequence altered? no
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)
59125DOMAINHMA 1.might get lost (downstream of altered splice site)
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 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 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 N/A
cDNA position
(for ins/del: last normal base / first normal base)		 67
gDNA position
(for ins/del: last normal base / first normal base)		 49646
chromosomal position
(for ins/del: last normal base / first normal base)		 52535985
original gDNA sequence snippet TCATCACTTGGACCACAAGATGGAAATAAAGCAGTAGGTAG
altered gDNA sequence snippet TCATCACTTGGACCACAAGAGGGAAATAAAGCAGTAGGTAG
original cDNA sequence snippet TCATCACTTGGACCACAAGATGGAAATAAAGCACTCCTCGG
altered cDNA sequence snippet TCATCACTTGGACCACAAGAGGGAAATAAAGCACTCCTCGG
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 N/A
speed 0.83 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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